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rs878853849

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853849(A;G)
Make rs878853849(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position95506601
GenePTCH1
is asnp
is mentioned by
dbSNPrs878853849
ebirs878853849
HLIrs878853849
Exacrs878853849
Varsomers878853849
Maprs878853849
PheGenIrs878853849
hapmaprs878853849
1000 genomesrs878853849
hgdprs878853849
ensemblrs878853849
gopubmedrs878853849
geneviewrs878853849
scholarrs878853849
googlers878853849
pharmgkbrs878853849
gwascentralrs878853849
openSNPrs878853849
23andMers878853849
23andMe allrs878853849
SNP Nexus

SNPshotrs878853849
SNPdbers878853849
MSV3drs878853849
GWAS Ctlgrs878853849
Max Magnitude0
ClinVar
Risk rs878853849(G;G)
Alt rs878853849(G;G)
Reference rs878853849(A;A)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98268883T>C
CLNSRC
CLNACC RCV000230457.1,