Have questions? Visit https://www.reddit.com/r/SNPedia

rs864622293

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622293(C;C)
Make rs864622293(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95477546
GenePTCH1
is asnp
is mentioned by
dbSNPrs864622293
ebirs864622293
HLIrs864622293
Exacrs864622293
Varsomers864622293
Maprs864622293
PheGenIrs864622293
hapmaprs864622293
1000 genomesrs864622293
hgdprs864622293
ensemblrs864622293
gopubmedrs864622293
geneviewrs864622293
scholarrs864622293
googlers864622293
pharmgkbrs864622293
gwascentralrs864622293
openSNPrs864622293
23andMers864622293
23andMe allrs864622293
SNP Nexus

SNPshotrs864622293
SNPdbers864622293
MSV3drs864622293
GWAS Ctlgrs864622293
Max Magnitude0
ClinVar
Risk rs864622293(C;C)
Alt rs864622293(C;C)
Reference rs864622293(G;G)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98239828C>G
CLNSRC
CLNACC RCV000204242.1,