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rs863224443

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224443(A;G)
Make rs863224443(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95449942
GenePTCH1
is asnp
is mentioned by
dbSNPrs863224443
ebirs863224443
HLIrs863224443
Exacrs863224443
Varsomers863224443
Maprs863224443
PheGenIrs863224443
hapmaprs863224443
1000 genomesrs863224443
hgdprs863224443
ensemblrs863224443
gopubmedrs863224443
geneviewrs863224443
scholarrs863224443
googlers863224443
pharmgkbrs863224443
gwascentralrs863224443
openSNPrs863224443
23andMers863224443
23andMe allrs863224443
SNP Nexus

SNPshotrs863224443
SNPdbers863224443
MSV3drs863224443
GWAS Ctlgrs863224443
Max Magnitude0
ClinVar
Risk rs863224443(G;G)
Alt rs863224443(G;G)
Reference rs863224443(A;A)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98212224T>C
CLNSRC
CLNACC RCV000196825.1,