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rs199476090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476090(C;T)
Make rs199476090(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position95479134
GenePTCH1
is asnp
is mentioned by
dbSNPrs199476090
ebirs199476090
HLIrs199476090
Exacrs199476090
Varsomers199476090
Maprs199476090
PheGenIrs199476090
hapmaprs199476090
1000 genomesrs199476090
hgdprs199476090
ensemblrs199476090
gopubmedrs199476090
geneviewrs199476090
scholarrs199476090
googlers199476090
pharmgkbrs199476090
gwascentralrs199476090
openSNPrs199476090
23andMers199476090
23andMe allrs199476090
SNP Nexus

SNPshotrs199476090
SNPdbers199476090
MSV3drs199476090
GWAS Ctlgrs199476090
Max Magnitude0
ClinVar
Risk rs199476090(T;T)
Alt rs199476090(T;T)
Reference rs199476090(C;C)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98241416G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008696.2,