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rs863224486

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224486(C;G)
Make rs863224486(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95482176
GenePTCH1
is asnp
is mentioned by
dbSNPrs863224486
ebirs863224486
HLIrs863224486
Exacrs863224486
Varsomers863224486
Maprs863224486
PheGenIrs863224486
hapmaprs863224486
1000 genomesrs863224486
hgdprs863224486
ensemblrs863224486
gopubmedrs863224486
geneviewrs863224486
scholarrs863224486
googlers863224486
pharmgkbrs863224486
gwascentralrs863224486
openSNPrs863224486
23andMers863224486
23andMe allrs863224486
SNP Nexus

SNPshotrs863224486
SNPdbers863224486
MSV3drs863224486
GWAS Ctlgrs863224486
Max Magnitude0
ClinVar
Risk rs863224486(G;G)
Alt rs863224486(G;G)
Reference rs863224486(C;C)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98244458G>C
CLNSRC
CLNACC RCV000197615.1,