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rs756876301

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756876301(A;A)
Make rs756876301(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position92517275
GenePEX1
is asnp
is mentioned by
dbSNPrs756876301
ebirs756876301
HLIrs756876301
Exacrs756876301
Varsomers756876301
Maprs756876301
PheGenIrs756876301
hapmaprs756876301
1000 genomesrs756876301
hgdprs756876301
ensemblrs756876301
gopubmedrs756876301
geneviewrs756876301
scholarrs756876301
googlers756876301
pharmgkbrs756876301
gwascentralrs756876301
openSNPrs756876301
23andMers756876301
23andMe allrs756876301
SNP Nexus

SNPshotrs756876301
SNPdbers756876301
MSV3drs756876301
GWAS Ctlgrs756876301
Max Magnitude0
ClinVar
Risk rs756876301(A;A)
Alt rs756876301(A;A)
Reference rs756876301(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.92146589C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201308.2,