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rs1060502285

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502285(A;A)
Make rs1060502285(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95456414
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502285
dbSNP (old)rs1060502285
ClinGenrs1060502285
ebirs1060502285
HLIrs1060502285
Exacrs1060502285
Gnomadrs1060502285
Varsomers1060502285
Maprs1060502285
PheGenIrs1060502285
Biobankrs1060502285
1000 genomesrs1060502285
hgdprs1060502285
ensemblrs1060502285
gopubmedrs1060502285
geneviewrs1060502285
scholarrs1060502285
googlers1060502285
pharmgkbrs1060502285
gwascentralrs1060502285
openSNPrs1060502285
23andMers1060502285
23andMe allrs1060502285
SNPshotrs1060502285
SNPdbers1060502285
MSV3drs1060502285
GWAS Ctlgrs1060502285
Max Magnitude0
ClinVar
Risk rs1060502285(A;A)
Alt rs1060502285(A;A)
Reference Rs1060502285(G;G)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98218696C>T
CLNSRC
CLNACC RCV000469522.1,