chr11:71167449:G>T Detail (hg19) (NADSYN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:71,167,449-71,167,449 |
| hg38 | chr11:71,456,403-71,456,403 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_018161.4:c.146+1233G>T | |
| Ensemble | ENST00000319023.7:c.146+1233G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.326 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.022 | Diabetes Mellitus, Insulin-Dependent | DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in isl... | BeFree | 23979957 | Detail |
| <0.001 | Coronary heart disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | coronary artery disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Cardiovascular Diseases | Recent genome-wide association studies have identified the rs1790349 and rs12785... | BeFree | 24642724 | Detail |
| <0.001 | Coronary Arteriosclerosis | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Coronary heart disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Coronary Arteriosclerosis | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | coronary artery disease | Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on... | BeFree | 24642724 | Detail |
| <0.001 | Cardiovascular Diseases | Recent genome-wide association studies have identified the rs1790349 and rs12785... | BeFree | 24642724 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in isl... | BeFree | 23979957 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | The second SNP, rs12785878, is located near DHCR7 (Chr11), a genetic determinant... | BeFree | 22130326 | Detail |
| 0.120 | Vitamin D Deficiency | Common genetic determinants of vitamin D insufficiency: a genome-wide associatio... | GWASCAT | 20541252 | Detail |
| <0.001 | Hepatitis C, Chronic | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | Detail |
| <0.001 | liver carcinoma | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | Detail |
| <0.001 | colon carcinoma | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | Detail |
| <0.001 | Hepatitis C, Chronic | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | Detail |
| <0.001 | Malignant tumor of colon | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | Detail |
| <0.001 | colon carcinoma | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | Detail |
| <0.001 | liver carcinoma | The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs228267... | BeFree | 23734184 | Detail |
| <0.001 | Malignant tumor of colon | In the present study, we investigated the association of three functional gene v... | BeFree | 23793229 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in islet autoimmunity, the... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotid... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Effect of polymorphisms in the NADSYN1/DHCR7 locus (rs12785878 and rs1790349) on plasma 25-hydroxyvi... | DisGeNET | Detail |
| Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotid... | DisGeNET | Detail |
| DHCR7/NADSYN1 rs12785878 and CYP27B1 rs4646536 may play an important role in islet autoimmunity, the... | DisGeNET | Detail |
| The second SNP, rs12785878, is located near DHCR7 (Chr11), a genetic determinant of vitamin D insuff... | DisGeNET | Detail |
| Common genetic determinants of vitamin D insufficiency: a genome-wide association study. | DisGeNET | Detail |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | DisGeNET | Detail |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | DisGeNET | Detail |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | DisGeNET | Detail |
| The well-known associations between CYP2R1 (rs1993116, rs10741657), GC (rs2282679), and DHCR7 (rs794... | DisGeNET | Detail |
| In the present study, we investigated the association of three functional gene variants in GC (rs228... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs12785878 dbSNP
- Genome
- hg19
- Position
- chr11:71,167,449-71,167,449
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs12785878
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3259
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5462
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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