Have questions? Visit https://www.reddit.com/r/SNPedia

rs370483961

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370483961(C;T)
Make rs370483961(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position92507055
GenePEX1
is asnp
is mentioned by
dbSNPrs370483961
ebirs370483961
HLIrs370483961
Exacrs370483961
Varsomers370483961
Maprs370483961
PheGenIrs370483961
hapmaprs370483961
1000 genomesrs370483961
hgdprs370483961
ensemblrs370483961
gopubmedrs370483961
geneviewrs370483961
scholarrs370483961
googlers370483961
pharmgkbrs370483961
gwascentralrs370483961
openSNPrs370483961
23andMers370483961
23andMe allrs370483961
SNP Nexus

SNPshotrs370483961
SNPdbers370483961
MSV3drs370483961
GWAS Ctlgrs370483961
Max Magnitude0
ClinVar
Risk rs370483961(G,T;G,T)
Alt rs370483961(G,T;G,T)
Reference rs370483961(C;C)
Significance Pathogenic
Disease Deafness enamel hypoplasia nail defects
Variation info
Gene PEX1
CLNDBN Deafness enamel hypoplasia nail defects
Reversed 0
HGVS NC_000007.13:g.92136369C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000201302.1,