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rs749995448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749995448(A;A)
Make rs749995448(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position101676673
GeneGRIK2
is asnp
is mentioned by
dbSNPrs749995448
dbSNP (classic)rs749995448
ClinGenrs749995448
ebirs749995448
HLIrs749995448
Exacrs749995448
Gnomadrs749995448
Varsomers749995448
LitVarrs749995448
Maprs749995448
PheGenIrs749995448
Biobankrs749995448
1000 genomesrs749995448
hgdprs749995448
ensemblrs749995448
geneviewrs749995448
scholarrs749995448
googlers749995448
pharmgkbrs749995448
gwascentralrs749995448
openSNPrs749995448
23andMers749995448
SNPshotrs749995448
SNPdbers749995448
MSV3drs749995448
GWAS Ctlgrs749995448
Max Magnitude0
ClinVar
Risk rs749995448(A;A) rs749995448(T;T)
Alt rs749995448(A;A) rs749995448(T;T)
Reference Rs749995448(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GRIK2
CLNDBN Mental retardation, autosomal recessive 6
Reversed 0
HGVS NC_000006.11:g.102124548C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169686.3,