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rs878853847

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853847(-;-)
Make rs878853847(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position95476147
GenePTCH1
is asnp
is mentioned by
dbSNPrs878853847
ebirs878853847
HLIrs878853847
Exacrs878853847
Varsomers878853847
Maprs878853847
PheGenIrs878853847
hapmaprs878853847
1000 genomesrs878853847
hgdprs878853847
ensemblrs878853847
gopubmedrs878853847
geneviewrs878853847
scholarrs878853847
googlers878853847
pharmgkbrs878853847
gwascentralrs878853847
openSNPrs878853847
23andMers878853847
23andMe allrs878853847
SNP Nexus

SNPshotrs878853847
SNPdbers878853847
MSV3drs878853847
GWAS Ctlgrs878853847
Max Magnitude0
ClinVar
Risk rs878853847(;)
Alt rs878853847(;)
Reference rs878853847(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98238429delC
CLNSRC
CLNACC RCV000231863.1,