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rs869312861

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312861(C;G)
Make rs869312861(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position161334830
GeneGABRB2
is asnp
is mentioned by
dbSNPrs869312861
ebirs869312861
HLIrs869312861
Exacrs869312861
Varsomers869312861
Maprs869312861
PheGenIrs869312861
hapmaprs869312861
1000 genomesrs869312861
hgdprs869312861
ensemblrs869312861
gopubmedrs869312861
geneviewrs869312861
scholarrs869312861
googlers869312861
pharmgkbrs869312861
gwascentralrs869312861
openSNPrs869312861
23andMers869312861
23andMe allrs869312861
SNP Nexus

SNPshotrs869312861
SNPdbers869312861
MSV3drs869312861
GWAS Ctlgrs869312861
Max Magnitude0
ClinVar
Risk rs869312861(G;G)
Alt rs869312861(G;G)
Reference rs869312861(C;C)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene GABRB2
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 1
HGVS NC_000005.9:g.160761837G>C
CLNSRC
CLNACC RCV000210398.1,