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rs786204056

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204056(C;C)
Make rs786204056(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95458011
GenePTCH1
is asnp
is mentioned by
dbSNPrs786204056
ebirs786204056
HLIrs786204056
Exacrs786204056
Varsomers786204056
Maprs786204056
PheGenIrs786204056
hapmaprs786204056
1000 genomesrs786204056
hgdprs786204056
ensemblrs786204056
gopubmedrs786204056
geneviewrs786204056
scholarrs786204056
googlers786204056
pharmgkbrs786204056
gwascentralrs786204056
openSNPrs786204056
23andMers786204056
23andMe allrs786204056
SNP Nexus

SNPshotrs786204056
SNPdbers786204056
MSV3drs786204056
GWAS Ctlgrs786204056
Max Magnitude0
ClinVar
Risk rs786204056(C;C)
Alt rs786204056(C;C)
Reference rs786204056(T;T)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98220293A>G
CLNSRC
CLNACC RCV000167915.1,