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rs1060502287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502287(A;A)
Make rs1060502287(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position95481987
GenePTCH1
is asnp
is mentioned by
dbSNPrs1060502287
dbSNP (old)rs1060502287
ClinGenrs1060502287
ebirs1060502287
HLIrs1060502287
Exacrs1060502287
Gnomadrs1060502287
Varsomers1060502287
LitVarrs1060502287
Maprs1060502287
PheGenIrs1060502287
Biobankrs1060502287
1000 genomesrs1060502287
hgdprs1060502287
ensemblrs1060502287
gopubmedrs1060502287
geneviewrs1060502287
scholarrs1060502287
googlers1060502287
pharmgkbrs1060502287
gwascentralrs1060502287
openSNPrs1060502287
23andMers1060502287
23andMe allrs1060502287
SNPshotrs1060502287
SNPdbers1060502287
MSV3drs1060502287
GWAS Ctlgrs1060502287
Max Magnitude0
ClinVar
Risk rs1060502287(A;A)
Alt rs1060502287(A;A)
Reference Rs1060502287(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98244269C>T
CLNSRC
CLNACC RCV000467813.1,