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rs786205791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205791(C;C)
Make rs786205791(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position115732900
GeneCASQ2
is asnp
is mentioned by
dbSNPrs786205791
dbSNP (classic)rs786205791
ClinGenrs786205791
ebirs786205791
HLIrs786205791
Exacrs786205791
Gnomadrs786205791
Varsomers786205791
LitVarrs786205791
Maprs786205791
PheGenIrs786205791
Biobankrs786205791
1000 genomesrs786205791
hgdprs786205791
ensemblrs786205791
geneviewrs786205791
scholarrs786205791
googlers786205791
pharmgkbrs786205791
gwascentralrs786205791
openSNPrs786205791
23andMers786205791
SNPshotrs786205791
SNPdbers786205791
MSV3drs786205791
GWAS Ctlgrs786205791
Max Magnitude0
ClinVar
Risk rs786205791(C;C)
Alt rs786205791(C;C)
Reference Rs786205791(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene CASQ2
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.116275521C>G
CLNSRC
CLNACC RCV000170889.2,