chr10:104594507:A>G Detail (hg19) (CYP17A1)

Information

Genome

Assembly Position
hg19 chr10:104,594,507-104,594,507
hg38 chr10:102,834,750-102,834,750 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000102.3:c.666+35T>C
Ensemble ENST00000638272.1:c.298-1542T>C
ENST00000369887.4:c.666+35T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.318
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.345

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 609300 OMIM
HGNC 2593 HGNC
Ensembl ENSG00000148795 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40475242 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-07-01 criteria provided, single submitter Deficiency of steroid 17-alpha-monooxygenase germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.333 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.122 Systemic arterial pressure [Genome-wide association study of blood pressure and hypertension.] GAD 19430479 Detail
0.013 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.122 Blood pressure finding [Genome-wide association study of blood pressure and hypertension.] GAD 19430479 Detail
<0.001 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 Detail
0.006 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.012 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.013 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.001 obesity In the obese group, 3 SNPs and the GRS were significantly associated with higher... BeFree 23591986 Detail
0.024 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.012 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.115 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.002 Hypertensive disease In contrast, in inactive group, two polymorphisms and genetic risk score were si... BeFree 23102448 Detail
0.002 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 Detail
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.333 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000102.4(CYP17A1):c.666+35T>C AND Deficiency of steroid 17-alpha-monooxygenase ClinVar Detail
NM_000102.4(CYP17A1):c.666+35T>C AND not provided ClinVar Detail
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
[Genome-wide association study of blood pressure and hypertension.] DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
[Genome-wide association study of blood pressure and hypertension.] DisGeNET Detail
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
In the obese group, 3 SNPs and the GRS were significantly associated with higher SBP (ATP2B1 rs17249... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
In contrast, in inactive group, two polymorphisms and genetic risk score were significantly associat... DisGeNET Detail
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1004467 dbSNP
Genome
hg19
Position
chr10:104,594,507-104,594,507
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))
rs1004467
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3177
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5324
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8554
East Asian Allele Counts (ExAC)
2949
East Asian Heterozygous Counts (ExAC)
1977
East Asian Homozygous Counts (ExAC)
486
East Asian Allele Frequency (ExAC)
0.3447509936871639
Chromosome Counts in All Race (ExAC)
121012
Allele Counts in All Race (ExAC)
18653
Heterozygous Counts in All Race (ExAC)
15047
Homozygous Counts in All Race (ExAC)
1803
Allele Frequency in All Race (ExAC)
0.1541417380094536
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