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rs864622212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CT) 5.3 Basal cell nevus syndrome
(CT;CT) 0 common in clinvar


Make rs864622212(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position95506542
GenePTCH1
is asnp
is mentioned by
dbSNPrs864622212
dbSNP (classic)rs864622212
ClinGenrs864622212
ebirs864622212
HLIrs864622212
Exacrs864622212
Gnomadrs864622212
Varsomers864622212
LitVarrs864622212
Maprs864622212
PheGenIrs864622212
Biobankrs864622212
1000 genomesrs864622212
hgdprs864622212
ensemblrs864622212
geneviewrs864622212
scholarrs864622212
googlers864622212
pharmgkbrs864622212
gwascentralrs864622212
openSNPrs864622212
23andMers864622212
SNPshotrs864622212
SNPdbers864622212
MSV3drs864622212
GWAS Ctlgrs864622212
Max Magnitude5.3
ClinVar
Risk rs864622212(-;-)
Alt rs864622212(-;-)
Reference Rs864622212(CT;CT)
Significance Pathogenic
Disease Gorlin syndrome not provided
Variation info
Gene PTCH1
CLNDBN Gorlin syndrome not provided
Reversed 1
HGVS NC_000009.11:g.98268824_98268825delAG
CLNSRC
CLNACC RCV000205683.1, RCV000374909.2,