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rs863224487

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224487(A;A)
Make rs863224487(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95482029
GenePTCH1
is asnp
is mentioned by
dbSNPrs863224487
ebirs863224487
HLIrs863224487
Exacrs863224487
Varsomers863224487
Maprs863224487
PheGenIrs863224487
hapmaprs863224487
1000 genomesrs863224487
hgdprs863224487
ensemblrs863224487
gopubmedrs863224487
geneviewrs863224487
scholarrs863224487
googlers863224487
pharmgkbrs863224487
gwascentralrs863224487
openSNPrs863224487
23andMers863224487
23andMe allrs863224487
SNP Nexus

SNPshotrs863224487
SNPdbers863224487
MSV3drs863224487
GWAS Ctlgrs863224487
Max Magnitude0
ClinVar
Risk rs863224487(A;A)
Alt rs863224487(A;A)
Reference rs863224487(T;T)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98244311A>T
CLNSRC
CLNACC RCV000199837.2,