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rs863225085

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225085(A;A)
Make rs863225085(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position92489310
GeneGATAD1, PEX1
is asnp
is mentioned by
dbSNPrs863225085
ebirs863225085
HLIrs863225085
Exacrs863225085
Varsomers863225085
Maprs863225085
PheGenIrs863225085
hapmaprs863225085
1000 genomesrs863225085
hgdprs863225085
ensemblrs863225085
gopubmedrs863225085
geneviewrs863225085
scholarrs863225085
googlers863225085
pharmgkbrs863225085
gwascentralrs863225085
openSNPrs863225085
23andMers863225085
23andMe allrs863225085
SNP Nexus

SNPshotrs863225085
SNPdbers863225085
MSV3drs863225085
GWAS Ctlgrs863225085
Max Magnitude0
ClinVar
Risk rs863225085(A;A)
Alt rs863225085(A;A)
Reference rs863225085(G;G)
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.92118624C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201292.1,