chr4:6281961:C>T Detail (hg19) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,281,961-6,281,961
hg38 chr4:6,280,234-6,280,234 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.232+2547C>T
NM_006005.3:c.232+2547C>T
Ensemble ENST00000226760.5:c.232+2547C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.999
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
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 tgv15957060 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.327 Diabetes Mellitus, Non-Insulin-Dependent A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs... BeFree 21713316 Detail
Annotation

Annotations

DescrptionSourceLinks
A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a prote... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs752854 dbSNP
Genome
hg19
Position
chr4:6,281,961-6,281,961
Variant Type
snv
Reference Allele
C
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))
rs752854
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9992
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16746
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser