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rs878853852

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.3 Basal cell nevus syndrome
(A;T) 5.3 Basal cell nevus syndrome
Make rs878853852(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position95462000
GeneLOC100507346, PTCH1
is asnp
is mentioned by
dbSNPrs878853852
dbSNP (classic)rs878853852
ClinGenrs878853852
ebirs878853852
HLIrs878853852
Exacrs878853852
Gnomadrs878853852
Varsomers878853852
LitVarrs878853852
Maprs878853852
PheGenIrs878853852
Biobankrs878853852
1000 genomesrs878853852
hgdprs878853852
ensemblrs878853852
geneviewrs878853852
scholarrs878853852
googlers878853852
pharmgkbrs878853852
gwascentralrs878853852
openSNPrs878853852
23andMers878853852
SNPshotrs878853852
SNPdbers878853852
MSV3drs878853852
GWAS Ctlgrs878853852
Max Magnitude5.3
ClinVar
Risk rs878853852(T;T)
Alt rs878853852(T;T)
Reference Rs878853852(A;A)
Significance Probable-Pathogenic
Disease Gorlin syndrome
Variation info
Gene LOC100507346 PTCH1
CLNDBN Gorlin syndrome
Reversed 1
HGVS NC_000009.11:g.98224282T>A
CLNSRC
CLNACC RCV000234129.1,