chr10:102837395:A>G Detail (hg38) (CYP17A1, LOC110408762)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:104,597,152-104,597,152 View the variant detail on this assembly version. |
| hg38 | chr10:102,837,395-102,837,395 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000102.3:c.-34T>C | |
| Ensemble | ENST00000369887.4:c.-34T>C | |
| ENST00000638190.1:c.-34T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.449 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.566 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-07-01 | criteria provided, multiple submitters, no conflicts | Deficiency of steroid 17-alpha-monooxygenase |
germline
|
Detail |
|
Benign
|
2024-01-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | endometriosis | We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 +... | BeFree | 23809139 | Detail |
| 0.017 | breast carcinoma | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
| 0.097 | Malignant neoplasm of breast | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
| 0.017 | breast carcinoma | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
| 0.097 | Malignant neoplasm of breast | We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (he... | BeFree | 22418777 | Detail |
| 0.017 | breast carcinoma | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
| 0.097 | Malignant neoplasm of breast | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
| 0.068 | Malignant neoplasm of breast | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
| 0.030 | breast carcinoma | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
| 0.033 | breast carcinoma | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o... | BeFree | 20133979 | Detail |
| 0.017 | breast carcinoma | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o... | BeFree | 20133979 | Detail |
| 0.114 | Malignant neoplasm of breast | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o... | BeFree | 20133979 | Detail |
| 0.097 | Malignant neoplasm of breast | CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects o... | BeFree | 20133979 | Detail |
| 0.042 | Malignant neoplasm of breast | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... | BeFree | 18483327 | Detail |
| <0.001 | Breast Diseases | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... | BeFree | 18483327 | Detail |
| <0.001 | Breast Diseases | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... | BeFree | 18483327 | Detail |
| <0.001 | Breast Diseases | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... | BeFree | 18483327 | Detail |
| 0.004 | breast carcinoma | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... | BeFree | 18483327 | Detail |
| <0.001 | breast fibrocystic disease | In a case-control study of Chinese women, we examined genotypes of the CYP11A1 p... | BeFree | 18483327 | Detail |
| 0.003 | Malignant neoplasm of gallbladder | CYP17 polymorphism (rs743572) is associated with increased risk of gallbladder c... | BeFree | 24687554 | Detail |
| <0.001 | Malignant neoplasm of gallbladder | However, in the case-only analysis, CYP rs743572 showed association with increas... | BeFree | 24687554 | Detail |
| 0.096 | Malignant neoplasm of prostate | We investigated the association of prostate cancer (PCa) and benign prostatic hy... | BeFree | 17961073 | Detail |
| 0.031 | polycystic ovary syndrome | Association of CYP17A1 gene -34T/C polymorphism with polycystic ovary syndrome i... | BeFree | 25208301 | Detail |
| 0.003 | polycystic ovary syndrome | To investigate the influence of the cytochrome P450 17α (CYP17A1) gene -34T/C po... | BeFree | 25208301 | Detail |
| 0.020 | endometrial carcinoma | The position -34T/C variant in CYP17A1 appears to be associated with reduced ris... | BeFree | 17110639 | Detail |
| <0.001 | gallbladder carcinoma | However, in the case-only analysis, CYP rs743572 showed association with increas... | BeFree | 24687554 | Detail |
| 0.001 | Carcinogenesis | We concluded that CYP17A1 T-34C polymorphism might not be one risk factor in the... | BeFree | 23609033 | Detail |
| 0.003 | Malignant neoplasm of endometrium | The position -34T/C variant in CYP17A1 appears to be associated with reduced ris... | BeFree | 17110639 | Detail |
| 0.096 | Malignant neoplasm of prostate | Quantitative assessment of the association between CYP17 rs743572 polymorphism a... | BeFree | 25323563 | Detail |
| <0.001 | gallbladder carcinoma | CYP17 rs743572 is associated with increased risk of GBC in tobacco users in the ... | BeFree | 24687554 | Detail |
| 0.003 | uterine corpus cancer | The position -34T/C variant in CYP17A1 appears to be associated with reduced ris... | BeFree | 17110639 | Detail |
| 0.097 | Malignant neoplasm of breast | No association between CYP17 T-34C polymorphism and breast cancer risk: a meta-a... | BeFree | 20013047 | Detail |
| 0.016 | prostate carcinoma | Quantitative assessment of the association between CYP17 rs743572 polymorphism a... | BeFree | 25323563 | Detail |
| 0.017 | breast carcinoma | No association between CYP17 T-34C polymorphism and breast cancer risk: a meta-a... | BeFree | 20013047 | Detail |
| 0.016 | prostate carcinoma | We investigated the association of prostate cancer (PCa) and benign prostatic hy... | BeFree | 17961073 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000102.4(CYP17A1):c.-34T>C AND Deficiency of steroid 17-alpha-monooxygenase | ClinVar | Detail |
| NM_000102.4(CYP17A1):c.-34T>C AND not provided | ClinVar | Detail |
| We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 + C1558T (rs10046) SN... | DisGeNET | Detail |
| We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
| We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
| We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
| We detected SNP-HT interactions in women overall within CYP1B1 (rs1800440; p (het) = 0.003) and with... | DisGeNET | Detail |
| We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
| We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
| We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
| We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
| CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc... | DisGeNET | Detail |
| CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc... | DisGeNET | Detail |
| CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc... | DisGeNET | Detail |
| CYP17 (T-34C) and CYP19 (Trp39Arg) polymorphisms and their cooperative effects on breast cancer susc... | DisGeNET | Detail |
| In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... | DisGeNET | Detail |
| In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... | DisGeNET | Detail |
| In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... | DisGeNET | Detail |
| In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... | DisGeNET | Detail |
| In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... | DisGeNET | Detail |
| In a case-control study of Chinese women, we examined genotypes of the CYP11A1 pentanucleotide [(TAA... | DisGeNET | Detail |
| CYP17 polymorphism (rs743572) is associated with increased risk of gallbladder cancer in tobacco use... | DisGeNET | Detail |
| However, in the case-only analysis, CYP rs743572 showed association with increased risk of GBC in to... | DisGeNET | Detail |
| We investigated the association of prostate cancer (PCa) and benign prostatic hyperplasia (BPH) with... | DisGeNET | Detail |
| Association of CYP17A1 gene -34T/C polymorphism with polycystic ovary syndrome in Han Chinese popula... | DisGeNET | Detail |
| To investigate the influence of the cytochrome P450 17α (CYP17A1) gene -34T/C polymorphism in the pa... | DisGeNET | Detail |
| The position -34T/C variant in CYP17A1 appears to be associated with reduced risk of endometrial can... | DisGeNET | Detail |
| However, in the case-only analysis, CYP rs743572 showed association with increased risk of GBC in to... | DisGeNET | Detail |
| We concluded that CYP17A1 T-34C polymorphism might not be one risk factor in the carcinogenesis of e... | DisGeNET | Detail |
| The position -34T/C variant in CYP17A1 appears to be associated with reduced risk of endometrial can... | DisGeNET | Detail |
| Quantitative assessment of the association between CYP17 rs743572 polymorphism and prostate cancer r... | DisGeNET | Detail |
| CYP17 rs743572 is associated with increased risk of GBC in tobacco users in the North Indian populat... | DisGeNET | Detail |
| The position -34T/C variant in CYP17A1 appears to be associated with reduced risk of endometrial can... | DisGeNET | Detail |
| No association between CYP17 T-34C polymorphism and breast cancer risk: a meta-analysis involving 58... | DisGeNET | Detail |
| Quantitative assessment of the association between CYP17 rs743572 polymorphism and prostate cancer r... | DisGeNET | Detail |
| No association between CYP17 T-34C polymorphism and breast cancer risk: a meta-analysis involving 58... | DisGeNET | Detail |
| We investigated the association of prostate cancer (PCa) and benign prostatic hyperplasia (BPH) with... | 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
- rs743572 dbSNP
- Genome
- hg38
- Position
- chr10:102,837,395-102,837,395
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs743572
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4492
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7529
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8302
- East Asian Allele Counts (ExAC)
- 4697
- East Asian Heterozygous Counts (ExAC)
- 2055
- East Asian Homozygous Counts (ExAC)
- 1321
- East Asian Allele Frequency (ExAC)
- 0.5657672849915683
- Chromosome Counts in All Race (ExAC)
- 117614
- Allele Counts in All Race (ExAC)
- 47052
- Heterozygous Counts in All Race (ExAC)
- 28315
- Homozygous Counts in All Race (ExAC)
- 9368
- Allele Frequency in All Race (ExAC)
- 0.4000544152906967
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