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rs147067171

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs147067171(C;C)
Make rs147067171(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95447309
GenePTCH1
is asnp
is mentioned by
dbSNPrs147067171
ebirs147067171
HLIrs147067171
Exacrs147067171
Varsomers147067171
Maprs147067171
PheGenIrs147067171
hapmaprs147067171
1000 genomesrs147067171
hgdprs147067171
ensemblrs147067171
gopubmedrs147067171
geneviewrs147067171
scholarrs147067171
googlers147067171
pharmgkbrs147067171
gwascentralrs147067171
openSNPrs147067171
23andMers147067171
23andMe allrs147067171
SNP Nexus

SNPshotrs147067171
SNPdbers147067171
MSV3drs147067171
GWAS Ctlgrs147067171
Max Magnitude0
ClinVar
Risk rs147067171(C;C)
Alt rs147067171(C;C)
Reference rs147067171(T;T)
Significance Probable-Pathogenic
Disease Gorlin syndrome Peters anomaly Rieger anomaly
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome Peters anomaly Rieger anomaly
Reversed 0
HGVS NC_000009.11:g.98209591T>C
CLNSRC
CLNACC RCV000119172.5, RCV000207364.1,