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rs863225054

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225054(A;G)
Make rs863225054(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95477548
GenePTCH1
is asnp
is mentioned by
dbSNPrs863225054
ebirs863225054
HLIrs863225054
Exacrs863225054
Varsomers863225054
Maprs863225054
PheGenIrs863225054
hapmaprs863225054
1000 genomesrs863225054
hgdprs863225054
ensemblrs863225054
gopubmedrs863225054
geneviewrs863225054
scholarrs863225054
googlers863225054
pharmgkbrs863225054
gwascentralrs863225054
openSNPrs863225054
23andMers863225054
23andMe allrs863225054
SNP Nexus

SNPshotrs863225054
SNPdbers863225054
MSV3drs863225054
GWAS Ctlgrs863225054
Max Magnitude0
ClinVar
Risk rs863225054(G;G)
Alt rs863225054(G;G)
Reference rs863225054(A;A)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98239830T>C
CLNSRC
CLNACC RCV000201252.1,