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rs148057999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs148057999(A;G)
Make rs148057999(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position115738253
GeneCASQ2
is asnp
is mentioned by
dbSNPrs148057999
dbSNP (classic)rs148057999
ClinGenrs148057999
ebirs148057999
HLIrs148057999
Exacrs148057999
Gnomadrs148057999
Varsomers148057999
LitVarrs148057999
Maprs148057999
PheGenIrs148057999
Biobankrs148057999
1000 genomesrs148057999
hgdprs148057999
ensemblrs148057999
geneviewrs148057999
scholarrs148057999
googlers148057999
pharmgkbrs148057999
gwascentralrs148057999
openSNPrs148057999
23andMers148057999
SNPshotrs148057999
SNPdbers148057999
MSV3drs148057999
GWAS Ctlgrs148057999
Max Magnitude0
ClinVar
Risk rs148057999(G;G)
Alt rs148057999(G;G)
Reference Rs148057999(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene CASQ2
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.116280874A>G
CLNSRC
CLNACC RCV000170887.2,