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rs786205795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205795(-;-)
Make rs786205795(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position115768338
GeneCASQ2
is asnp
is mentioned by
dbSNPrs786205795
dbSNP (classic)rs786205795
ClinGenrs786205795
ebirs786205795
HLIrs786205795
Exacrs786205795
Gnomadrs786205795
Varsomers786205795
LitVarrs786205795
Maprs786205795
PheGenIrs786205795
Biobankrs786205795
1000 genomesrs786205795
hgdprs786205795
ensemblrs786205795
geneviewrs786205795
scholarrs786205795
googlers786205795
pharmgkbrs786205795
gwascentralrs786205795
openSNPrs786205795
23andMers786205795
SNPshotrs786205795
SNPdbers786205795
MSV3drs786205795
GWAS Ctlgrs786205795
Max Magnitude0
ClinVar
Risk rs786205795(-;-)
Alt rs786205795(-;-)
Reference Rs786205795(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene CASQ2
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.116310959delT
CLNSRC
CLNACC RCV000170906.2,