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rs587776628

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776628(A;A)
Make rs587776628(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position44823064
GenePTCH2
is asnp
is mentioned by
dbSNPrs587776628
dbSNP (classic)rs587776628
ClinGenrs587776628
ebirs587776628
HLIrs587776628
Exacrs587776628
Gnomadrs587776628
Varsomers587776628
LitVarrs587776628
Maprs587776628
PheGenIrs587776628
Biobankrs587776628
1000 genomesrs587776628
hgdprs587776628
ensemblrs587776628
geneviewrs587776628
scholarrs587776628
googlers587776628
pharmgkbrs587776628
gwascentralrs587776628
openSNPrs587776628
23andMers587776628
SNPshotrs587776628
SNPdbers587776628
MSV3drs587776628
GWAS Ctlgrs587776628
Max Magnitude0
ClinVar
Risk rs587776628(A;A) Rs587776628(G;G)
Alt rs587776628(A;A) Rs587776628(G;G)
Reference Rs587776628(C;C)
Significance Pathogenic
Disease Basal cell carcinoma
Variation info
Gene PTCH2
CLNDBN Basal cell carcinoma, somatic
Reversed 1
HGVS NC_000001.10:g.45288736G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006521.5,