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rs121434397

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434397(A;A)
Make rs121434397(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position44827617
GenePTCH2
is asnp
is mentioned by
dbSNPrs121434397
ebirs121434397
HLIrs121434397
Exacrs121434397
Varsomers121434397
Maprs121434397
PheGenIrs121434397
hapmaprs121434397
1000 genomesrs121434397
hgdprs121434397
ensemblrs121434397
gopubmedrs121434397
geneviewrs121434397
scholarrs121434397
googlers121434397
pharmgkbrs121434397
gwascentralrs121434397
openSNPrs121434397
23andMers121434397
23andMe allrs121434397
SNP Nexus

SNPshotrs121434397
SNPdbers121434397
MSV3drs121434397
GWAS Ctlgrs121434397
Max Magnitude0
OMIM603673
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434397(A;A)
Alt rs121434397(A;A)
Reference rs121434397(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH2
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000001.10:g.45293289C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006522.2,