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rs778260156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5.3 Basal cell nevus syndrome
Make rs778260156(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position95467285
GeneLOC100507346, PTCH1
is asnp
is mentioned by
dbSNPrs778260156
dbSNP (classic)rs778260156
ClinGenrs778260156
ebirs778260156
HLIrs778260156
Exacrs778260156
Gnomadrs778260156
Varsomers778260156
LitVarrs778260156
Maprs778260156
PheGenIrs778260156
Biobankrs778260156
1000 genomesrs778260156
hgdprs778260156
ensemblrs778260156
geneviewrs778260156
scholarrs778260156
googlers778260156
pharmgkbrs778260156
gwascentralrs778260156
openSNPrs778260156
23andMers778260156
SNPshotrs778260156
SNPdbers778260156
MSV3drs778260156
GWAS Ctlgrs778260156
Max Magnitude5.3
ClinVar
Risk rs778260156(A;A) rs778260156(T;T)
Alt rs778260156(A;A) rs778260156(T;T)
Reference Rs778260156(G;G)
Significance Pathogenic
Disease Gorlin syndrome
Variation info
Gene LOC100507346 PTCH1
CLNDBN Gorlin syndrome
Reversed 0
HGVS NC_000009.11:g.98229567G>T
CLNSRC
CLNACC RCV000230356.1,