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rs1060502271

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502271(A;T)
Make rs1060502271(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95479149
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502271
dbSNP (classic)rs1060502271
ClinGenrs1060502271
ebirs1060502271
HLIrs1060502271
Exacrs1060502271
Gnomadrs1060502271
Varsomers1060502271
LitVarrs1060502271
Maprs1060502271
PheGenIrs1060502271
Biobankrs1060502271
1000 genomesrs1060502271
hgdprs1060502271
ensemblrs1060502271
geneviewrs1060502271
scholarrs1060502271
googlers1060502271
pharmgkbrs1060502271
gwascentralrs1060502271
openSNPrs1060502271
23andMers1060502271
23andMe allrs1060502271
SNPshotrs1060502271
SNPdbers1060502271
MSV3drs1060502271
GWAS Ctlgrs1060502271
Max Magnitude0
ClinVar
Risk rs1060502271(T;T)
Alt rs1060502271(T;T)
Reference Rs1060502271(A;A)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98241431T>A
CLNSRC
CLNACC RCV000461794.1,