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rs863224442

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224442(A;A)
Make rs863224442(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95453477
GenePTCH1
is asnp
is mentioned by
dbSNPrs863224442
ebirs863224442
HLIrs863224442
Exacrs863224442
Varsomers863224442
Maprs863224442
PheGenIrs863224442
hapmaprs863224442
1000 genomesrs863224442
hgdprs863224442
ensemblrs863224442
gopubmedrs863224442
geneviewrs863224442
scholarrs863224442
googlers863224442
pharmgkbrs863224442
gwascentralrs863224442
openSNPrs863224442
23andMers863224442
23andMe allrs863224442
SNP Nexus

SNPshotrs863224442
SNPdbers863224442
MSV3drs863224442
GWAS Ctlgrs863224442
Max Magnitude0
ClinVar
Risk rs863224442(A;A)
Alt rs863224442(A;A)
Reference rs863224442(G;G)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98215759C>T
CLNSRC
CLNACC RCV000195968.1,