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rs1060502277

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502277(G;T)
Make rs1060502277(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95476758
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502277
dbSNP (old)rs1060502277
ClinGenrs1060502277
ebirs1060502277
HLIrs1060502277
Exacrs1060502277
Gnomadrs1060502277
Varsomers1060502277
Maprs1060502277
PheGenIrs1060502277
Biobankrs1060502277
1000 genomesrs1060502277
hgdprs1060502277
ensemblrs1060502277
gopubmedrs1060502277
geneviewrs1060502277
scholarrs1060502277
googlers1060502277
pharmgkbrs1060502277
gwascentralrs1060502277
openSNPrs1060502277
23andMers1060502277
23andMe allrs1060502277
SNPshotrs1060502277
SNPdbers1060502277
MSV3drs1060502277
GWAS Ctlgrs1060502277
Max Magnitude0
ClinVar
Risk rs1060502277(T;T)
Alt rs1060502277(T;T)
Reference Rs1060502277(G;G)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98239040C>A
CLNSRC
CLNACC RCV000459384.1,