chr4:6295693:C>G Detail (hg19) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,295,693-6,295,693
hg38 chr4:6,293,966-6,293,966 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.713-1075C>G
NM_006005.3:c.713-1075C>G
Ensemble ENST00000226760.5:c.713-1075C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.985
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606201 OMIM
HGNC 12762 HGNC
Ensembl ENSG00000109501 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15957666 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2020-01-06 no assertion criteria provided Diabetes mellitus, noninsulin-dependent, association with germline Detail
Benign 2018-06-14 criteria provided, single submitter not provided germline Detail
Benign 2019-05-28 criteria provided, multiple submitters, no conflicts Wolfram syndrome 1 unknown Detail
Pathogenic 2024-03-06 no assertion criteria provided type 2 diabetes mellitus germline Detail
Benign 2020-10-28 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.564 Diabetes Mellitus, Non-Insulin-Dependent Not only did an association between WFS1-rs6446482 and early-onset T2D exist in ... BeFree 20509872 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.713-1075C>G AND Diabetes mellitus, noninsulin-dependent, association with ClinVar Detail
NM_006005.3(WFS1):c.713-1075C>G AND not provided ClinVar Detail
NM_006005.3(WFS1):c.713-1075C>G AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.713-1075C>G AND Type 2 diabetes mellitus ClinVar Detail
NM_006005.3(WFS1):c.713-1075C>G AND not specified ClinVar Detail
Not only did an association between WFS1-rs6446482 and early-onset T2D exist in the subgroup analysi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6446482 dbSNP
Genome
hg19
Position
chr4:6,295,693-6,295,693
Variant Type
snv
Reference Allele
C
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))
rs6446482
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9852
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16512
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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