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rs863225084

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225084(G;G)
Make rs863225084(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position92503153
GenePEX1
is asnp
is mentioned by
dbSNPrs863225084
ebirs863225084
HLIrs863225084
Exacrs863225084
Varsomers863225084
Maprs863225084
PheGenIrs863225084
hapmaprs863225084
1000 genomesrs863225084
hgdprs863225084
ensemblrs863225084
gopubmedrs863225084
geneviewrs863225084
scholarrs863225084
googlers863225084
pharmgkbrs863225084
gwascentralrs863225084
openSNPrs863225084
23andMers863225084
23andMe allrs863225084
SNP Nexus

SNPshotrs863225084
SNPdbers863225084
MSV3drs863225084
GWAS Ctlgrs863225084
Max Magnitude0
ClinVar
Risk rs863225084(G;G)
Alt rs863225084(G;G)
Reference rs863225084(T;T)
Significance Pathogenic
Disease Deafness enamel hypoplasia nail defects
Variation info
Gene PEX1
CLNDBN Deafness enamel hypoplasia nail defects
Reversed 1
HGVS NC_000007.13:g.92132467A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201290.1,