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rs786205799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205799(-;-)
Make rs786205799(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position115768329
GeneCASQ2
is asnp
is mentioned by
dbSNPrs786205799
dbSNP (classic)rs786205799
ClinGenrs786205799
ebirs786205799
HLIrs786205799
Exacrs786205799
Gnomadrs786205799
Varsomers786205799
LitVarrs786205799
Maprs786205799
PheGenIrs786205799
Biobankrs786205799
1000 genomesrs786205799
hgdprs786205799
ensemblrs786205799
geneviewrs786205799
scholarrs786205799
googlers786205799
pharmgkbrs786205799
gwascentralrs786205799
openSNPrs786205799
23andMers786205799
SNPshotrs786205799
SNPdbers786205799
MSV3drs786205799
GWAS Ctlgrs786205799
Max Magnitude0
ClinVar
Risk rs786205799(-;-)
Alt rs786205799(-;-)
Reference Rs786205799(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene CASQ2
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.116310950delT
CLNSRC
CLNACC RCV000170914.2,