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rs794727242

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727242(G;T)
Make rs794727242(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95506458
GenePTCH1
is asnp
is mentioned by
dbSNPrs794727242
ebirs794727242
HLIrs794727242
Exacrs794727242
Varsomers794727242
Maprs794727242
PheGenIrs794727242
hapmaprs794727242
1000 genomesrs794727242
hgdprs794727242
ensemblrs794727242
gopubmedrs794727242
geneviewrs794727242
scholarrs794727242
googlers794727242
pharmgkbrs794727242
gwascentralrs794727242
openSNPrs794727242
23andMers794727242
23andMe allrs794727242
SNP Nexus

SNPshotrs794727242
SNPdbers794727242
MSV3drs794727242
GWAS Ctlgrs794727242
Max Magnitude0
ClinVar
Risk rs794727242(T;T)
Alt rs794727242(T;T)
Reference rs794727242(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98268740C>A
CLNSRC
CLNACC RCV000175570.1,