chr4:6303354:G>A Detail (hg19) (WFS1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:6,303,354-6,303,354 |
hg38 | chr4:6,301,627-6,301,627 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001145853.1:c.1832G>A | NP_001139325.1:p.Arg611His |
NM_006005.3:c.1832G>A | NP_005996.2:p.Arg611His | |
Ensemble | ENST00000503569.5:c.1832G>A | ENST00000503569.5:p.Arg611His |
Summary
MGeND
Clinical significance |
![]() |
Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.850 |
ToMMo:0.865 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.836 |
Prediction
ClinVar
Clinical Significance |
![]() ![]() |
Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
![]() |
Wolfram syndrome |
![]() |
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2013-07-30 | criteria provided, multiple submitters, no conflicts | not specified |
![]() |
Detail |
![]() |
2017-04-27 | criteria provided, single submitter | Autosomal dominant nonsyndromic hearing loss 6 |
![]() |
Detail |
![]() |
2017-04-27 | criteria provided, single submitter | WFS1-Related Spectrum Disorders |
![]() |
Detail |
![]() ![]() |
2019-05-28 | criteria provided, multiple submitters, no conflicts | Wolfram syndrome 1 |
![]() |
Detail |
![]() |
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Completed Suicide | The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... | BeFree | 19115052 | Detail |
<0.001 | Completed Suicide | The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... | BeFree | 19115052 | Detail |
<0.001 | Completed Suicide | The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... | BeFree | 19115052 | Detail |
0.327 | Diabetes Mellitus, Non-Insulin-Dependent | Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 di... | BeFree | 23257691 | Detail |
0.327 | Diabetes Mellitus, Non-Insulin-Dependent | A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs... | BeFree | 21713316 | Detail |
0.005 | Headache | The wolframin His611Arg polymorphism influences medication overuse headache. | BeFree | 17719176 | Detail |
<0.001 | psychiatric hospitalization | Wolframin gene polymorphisms, including the H611R polymorphism, are reportedly a... | BeFree | 19328217 | Detail |
0.004 | Diabetes | The rs734312 from WFS1 gene was associated with diabetes at genotype level (P<... | BeFree | 24477584 | Detail |
0.010 | Mood Disorders | No association between wolframin gene H611R polymorphism and mood disorders: evi... | BeFree | 25074416 | Detail |
0.019 | diabetes mellitus | The rs734312 from WFS1 gene was associated with diabetes at genotype level (P<... | BeFree | 24477584 | Detail |
0.010 | Mood Disorders | Wolframin gene H611R polymorphism: no direct association with suicidal behavior ... | BeFree | 19328217 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND not specified | ClinVar | Detail |
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND Autosomal dominant nonsyndromic hearing loss 6 | ClinVar | Detail |
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND WFS1-Related Spectrum Disorders | ClinVar | Detail |
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND Wolfram syndrome 1 | ClinVar | Detail |
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) AND not provided | ClinVar | Detail |
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... | DisGeNET | Detail |
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... | DisGeNET | Detail |
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... | DisGeNET | Detail |
Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 diabetes mellitus: a m... | DisGeNET | Detail |
A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a prote... | DisGeNET | Detail |
The wolframin His611Arg polymorphism influences medication overuse headache. | DisGeNET | Detail |
Wolframin gene polymorphisms, including the H611R polymorphism, are reportedly associated with mood ... | DisGeNET | Detail |
The rs734312 from WFS1 gene was associated with diabetes at genotype level (P<0.01). | DisGeNET | Detail |
No association between wolframin gene H611R polymorphism and mood disorders: evidence from 2,570 sub... | DisGeNET | Detail |
The rs734312 from WFS1 gene was associated with diabetes at genotype level (P<0.01). | DisGeNET | Detail |
Wolframin gene H611R polymorphism: no direct association with suicidal behavior but possible link to... | 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
- rs734312 dbSNP
- Genome
- hg19
- Position
- chr4:6,303,354-6,303,354
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 168.13
- Standard deviation of sample read depth (HGVD)
- 75.78
- Number of reference allele (HGVD)
- 363
- Number of alternative allele (HGVD)
- 2057
- Allele Frequency (HGVD)
- 0.85
- Gene Symbol (HGVD)
- WFS1
- 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))
- rs734312
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8655
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14505
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 7226
- East Asian Heterozygous Counts (ExAC)
- 1172
- East Asian Homozygous Counts (ExAC)
- 3027
- East Asian Allele Frequency (ExAC)
- 0.8363425925925926
- Chromosome Counts in All Race (ExAC)
- 121340
- Allele Counts in All Race (ExAC)
- 65123
- Heterozygous Counts in All Race (ExAC)
- 27131
- Homozygous Counts in All Race (ExAC)
- 18996
- Allele Frequency in All Race (ExAC)
- 0.5366985330476347
Genome browser