chr16:89913418:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:89,979,826-89,987,381 |
| hg38 | chr16:89,913,418-89,920,973 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.006 | squamous cell carcinoma | Subjects carrying at least one MC1R variant had an increased risk of NMSC overal... | BeFree,GAD | 26103569 | Detail |
| 0.125 | Freckles | NA | GAD,GWASCAT | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| 0.120 | Hyperalgesia | NA | CTD_human | Detail | |
| <0.001 | actinic keratosis | IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of s... | BeFree | 25724930 | Detail |
| <0.001 | Lentigo | NA | BeFree | Detail | |
| 0.003 | Lymphoma, Follicular | NA | BeFree,GAD | Detail | |
| 0.002 | Lymphoma, Non-Hodgkin | NA | GAD | Detail | |
| <0.001 | Mesothelioma | NA | BeFree | Detail | |
| 0.012 | multiple sclerosis | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Neck Neoplasms | NA | BeFree | Detail | |
| 0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.002 | Neoplasms, Multiple Primary | NA | GAD | Detail | |
| 0.002 | Neoplasms, Radiation-Induced | NA | GAD | Detail | |
| 0.007 | Nevus | Development of a melanoma risk prediction model incorporating MC1R genotype and ... | BeFree,GAD | 25003831 | Detail |
| 0.007 | Nevus | Interactions between ultraviolet light and MC1R and OCA2 variants are determinan... | BeFree,GAD | 25410285 | Detail |
| 0.002 | Melanocytic nevus | Development of a melanoma risk prediction model incorporating MC1R genotype and ... | BeFree | 25003831 | Detail |
| 0.002 | Melanocytic nevus | Interactions between ultraviolet light and MC1R and OCA2 variants are determinan... | BeFree | 25410285 | Detail |
| 0.003 | obesity | NA | BeFree,GAD | Detail | |
| <0.001 | Pain | NA | BeFree | Detail | |
| <0.001 | Pallor | NA | BeFree | Detail | |
| <0.001 | pheochromocytoma | NA | BeFree | Detail | |
| 0.002 | Photosensitivity Disorders | NA | GAD | Detail | |
| 0.005 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) an... | BeFree | 18025365 | Detail |
| 0.120 | Protein-Losing Enteropathies | NA | CTD_human | Detail | |
| 0.003 | psoriasis | NA | BeFree,GAD | Detail | |
| <0.001 | Dermatologic disorders | NA | BeFree | Detail | |
| <0.001 | Skin lesion | NA | BeFree | Detail | |
| 0.069 | Skin Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.003 | Erythema | Persons carrying MC1R homozygote variant alleles at R151C, R160W, D294H and D84E... | BeFree | 20129839 | Detail |
| 0.284 | melanoma | MC1R gene variants have previously been associated with red hair and fair skin c... | BeFree | 11179997 | Detail |
| 0.005 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | Measures included past sun exposure by calendar and questionnaire, spectrophotom... | BeFree | 18711112 | Detail |
| 0.014 | Malignant neoplasm of skin | We studied the desensitization and internalization of three variant MC1R forms a... | BeFree | 17130136 | Detail |
| <0.001 | pheochromocytoma | When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D29... | BeFree | 19755124 | Detail |
| 0.005 | Experimental Organism Basal Cell Carcinoma | A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution... | BeFree | 21700618 | Detail |
| 0.005 | Experimental Organism Basal Cell Carcinoma | The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier med... | BeFree | 25159867 | Detail |
| 0.284 | melanoma | Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro... | BeFree | 17492760 | Detail |
| 0.284 | melanoma | Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associat... | BeFree | 19799798 | Detail |
| 0.284 | melanoma | Furthermore, a non-significant tendency towards an association between melanoma ... | BeFree | 22621339 | Detail |
| 0.284 | melanoma | The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. | BeFree | 25631192 | Detail |
| 0.003 | Parkinson disease | The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. | BeFree | 25631192 | Detail |
| <0.001 | Pallor | The R160W MC1R change has previously been implicated in a red hair/pale skin phe... | BeFree | 22337906 | Detail |
| 0.126 | vitiligo | C478T, one of the MC1R SNPs studied in 108 fair-skinned vitiligo patients and in... | BeFree | 18282185 | Detail |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | C478T, one of the MC1R SNPs studied in 108 fair-skinned vitiligo patients and in... | BeFree | 18282185 | Detail |
| 0.122 | Sunburn | NA | GAD,GWASCAT | Detail | |
| 0.002 | Thyroid Neoplasm | NA | GAD | Detail | |
| 0.003 | Erythema | NA | BeFree,GAD | Detail | |
| 0.126 | vitiligo | Recent investigations suggest an association between MC1R genotype and vitiligo,... | BeFree,CTD_human,GAD | 25219681 | Detail |
| 0.008 | Albinism, Oculocutaneous | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | diffuse large B-cell lymphoma | NA | BeFree,GAD | Detail | |
| <0.001 | piebaldism | NA | BeFree | Detail | |
| 0.002 | Epstein-Barr Virus Infections | NA | GAD | Detail | |
| 0.011 | Cutaneous Melanoma | Patients with cutaneous melanoma who are carriers of polymorphisms in the melano... | BeFree,GAD | 24238329 | Detail |
| 0.011 | Cutaneous Melanoma | Recent research has investigated the role of melanocortin 1 receptor (MC1R), a g... | BeFree,GAD | 24443365 | Detail |
| 0.011 | Cutaneous Melanoma | Dermoscopic features of cutaneous melanoma are associated with clinical characte... | BeFree,GAD | 24588892 | Detail |
| <0.001 | Secondary malignant neoplasm of bone | NA | BeFree | Detail | |
| <0.001 | Angelman syndrome | NA | BeFree | Detail | |
| <0.001 | Cicatrix, Hypertrophic | The genetic determinants of post-burn hypertrophic scarring (HTS) are unknown, a... | BeFree | 26030184 | Detail |
| <0.001 | Hypopigmentation disorder | NA | BeFree | Detail | |
| 0.002 | Follicular thyroid carcinoma | NA | GAD | Detail | |
| 0.003 | Melanoma, Amelanotic | NA | BeFree,GAD | Detail | |
| <0.001 | uveal melanoma | NA | BeFree | Detail | |
| 0.243 | Oculocutaneous albinism type 2 | NA | BeFree,CTD_human,GAD,ORPHANET | Detail | |
| 0.003 | Vulvar Vestibulitis | NA | BeFree,GAD | Detail | |
| <0.001 | Superficial spreading malignant melanoma of skin | Non-carriers of MC1R R variants develop melanomas dermoscopically characterized ... | BeFree | 24588892 | Detail |
| 0.001 | Absence of pain sensation | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of skin | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | Reduced photoprotection secondary to MC1R dysfunction involves pigmentary and no... | BeFree | 25219681 | Detail |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| 0.126 | skin carcinoma | MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SK... | BeFree,GAD,GWASCAT | 26103569 | Detail |
| <0.001 | skin damage | Moreover, we identified a particular significance of MC1R variants and dorsal ac... | BeFree | 24665948 | Detail |
| 0.120 | Congenital melanocytic nevus | NA | BeFree,ORPHANET | Detail | |
| 0.002 | Benign melanocytic nevus | Development of a melanoma risk prediction model incorporating MC1R genotype and ... | BeFree | 25003831 | Detail |
| 0.002 | Benign melanocytic nevus | Interactions between ultraviolet light and MC1R and OCA2 variants are determinan... | BeFree | 25410285 | Detail |
| 0.001 | Hereditary Melanoma | Further, MC1R gene variants were increased in familial melanoma cases compared t... | BeFree | 25943250 | Detail |
| <0.001 | Skin Pigmentation Disorder | NA | BeFree | Detail | |
| 0.120 | MELANOMA, CUTANEOUS MALIGNANT, 1 | NA | CTD_human | Detail | |
| 0.120 | GIANT PIGMENTED HAIRY NEVUS | NA | ORPHANET | Detail | |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | Recent investigations suggest an association between MC1R genotype and vitiligo,... | BeFree | 25219681 | Detail |
| <0.001 | Hypotrichosis simplex | MC1R SNP R163Q was also significantly (P<0.001) associated with severe HTS. | BeFree | 26030184 | Detail |
| <0.001 | ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | NA | BeFree | Detail | |
| <0.001 | Lentigo maligna melanoma | NA | BeFree | Detail | |
| 0.002 | Solar Erythema | NA | GAD | Detail | |
| 0.002 | Structure showing abnormal deposition of pigment (morphologic abnormality) | NA | GAD | Detail | |
| 0.001 | Melanocytic nevus of skin | Development of a melanoma risk prediction model incorporating MC1R genotype and ... | BeFree | 25003831 | Detail |
| 0.001 | Melanocytic nevus of skin | Interactions between ultraviolet light and MC1R and OCA2 variants are determinan... | BeFree | 25410285 | Detail |
| 0.005 | Experimental Organism Basal Cell Carcinoma | The rs1805007|rs386505388>p.(Arg151Cys) variant in MC1R (rs1805007) was associat... | BeFree | 25159867 | Detail |
| 0.005 | Experimental Organism Basal Cell Carcinoma | Indoor tanning and the MC1R genotype: risk prediction for basal cell carcinoma r... | BeFree | 25858289 | Detail |
| 0.080 | Acute-Phase Reaction | NA | RGD | Detail | |
| <0.001 | Albinism | NA | BeFree | Detail | |
| <0.001 | Anxiety Disorders | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.014 | Malignant neoplasm of skin | Future development of compounds to correct defective MC1R responses secondary to... | BeFree,GAD | 25219681 | Detail |
| 0.014 | Malignant neoplasm of skin | Our early-onset BCC risk prediction model incorporating MC1R and indoor tanning ... | BeFree,GAD | 25858289 | Detail |
| 0.014 | Malignant neoplasm of skin | Our findings suggest that in the majority of CDKN2A wt melanoma families, a segr... | BeFree,GAD | 25943250 | Detail |
| <0.001 | Malignant neoplasm of thyroid | NA | BeFree | Detail | |
| 0.257 | basal cell carcinoma | NA | CTD_human,GAD,GWASCAT,LHGDN | Detail | |
| 0.002 | Carcinoma, Papillary | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Subjects carrying at least one MC1R variant had an increased risk of NMSC overall, basal cell carcin... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Development of a melanoma risk prediction model incorporating MC1R genotype and indoor tanning expos... | DisGeNET | Detail |
| Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevu... | DisGeNET | Detail |
| Development of a melanoma risk prediction model incorporating MC1R genotype and indoor tanning expos... | DisGeNET | Detail |
| Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) and homozygosity for a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Persons carrying MC1R homozygote variant alleles at R151C, R160W, D294H and D84E were more likely to... | DisGeNET | Detail |
| MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ... | DisGeNET | Detail |
| Measures included past sun exposure by calendar and questionnaire, spectrophotometric skin type, and... | DisGeNET | Detail |
| We studied the desensitization and internalization of three variant MC1R forms associated with red h... | DisGeNET | Detail |
| When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants ass... | DisGeNET | Detail |
| A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well... | DisGeNET | Detail |
| The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of ... | DisGeNET | Detail |
| Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as ... | DisGeNET | Detail |
| Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in ... | DisGeNET | Detail |
| Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R varian... | DisGeNET | Detail |
| The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. | DisGeNET | Detail |
| The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. | DisGeNET | Detail |
| The R160W MC1R change has previously been implicated in a red hair/pale skin phenotype, and MC2R -T1... | DisGeNET | Detail |
| C478T, one of the MC1R SNPs studied in 108 fair-skinned vitiligo patients and in 70 fair-skinned hea... | DisGeNET | Detail |
| C478T, one of the MC1R SNPs studied in 108 fair-skinned vitiligo patients and in 70 fair-skinned hea... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recent investigations suggest an association between MC1R genotype and vitiligo, with preliminary ev... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patients with cutaneous melanoma who are carriers of polymorphisms in the melanocortin 1 receptor ge... | DisGeNET | Detail |
| Recent research has investigated the role of melanocortin 1 receptor (MC1R), a gene associated with ... | DisGeNET | Detail |
| Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The genetic determinants of post-burn hypertrophic scarring (HTS) are unknown, and melanocortin 1 re... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Non-carriers of MC1R R variants develop melanomas dermoscopically characterized by an atypical pigme... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Reduced photoprotection secondary to MC1R dysfunction involves pigmentary and non-pigmentary mechani... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project. | DisGeNET | Detail |
| Moreover, we identified a particular significance of MC1R variants and dorsal actinic skin damage. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Development of a melanoma risk prediction model incorporating MC1R genotype and indoor tanning expos... | DisGeNET | Detail |
| Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevu... | DisGeNET | Detail |
| Further, MC1R gene variants were increased in familial melanoma cases compared to controls (OR 2.4, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recent investigations suggest an association between MC1R genotype and vitiligo, with preliminary ev... | DisGeNET | Detail |
| MC1R SNP R163Q was also significantly (P<0.001) associated with severe HTS. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Development of a melanoma risk prediction model incorporating MC1R genotype and indoor tanning expos... | DisGeNET | Detail |
| Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevu... | DisGeNET | Detail |
| The rs1805007|rs386505388>p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier m... | DisGeNET | Detail |
| Indoor tanning and the MC1R genotype: risk prediction for basal cell carcinoma risk in young people. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Future development of compounds to correct defective MC1R responses secondary to MC1R variants could... | DisGeNET | Detail |
| Our early-onset BCC risk prediction model incorporating MC1R and indoor tanning extends the work of ... | DisGeNET | Detail |
| Our findings suggest that in the majority of CDKN2A wt melanoma families, a segregation of variants ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386505388 dbSNP
- Genome
- hg38
- Position
- chr16:89,913,418-89,920,973
- Variant Type
- snv
Genome browser