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rs121918363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918363(A;G)
Make rs121918363(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position100667292
GeneSRPX2
is asnp
is mentioned by
dbSNPrs121918363
dbSNP (classic)rs121918363
ClinGenrs121918363
ebirs121918363
HLIrs121918363
Exacrs121918363
Gnomadrs121918363
Varsomers121918363
LitVarrs121918363
Maprs121918363
PheGenIrs121918363
Biobankrs121918363
1000 genomesrs121918363
hgdprs121918363
ensemblrs121918363
geneviewrs121918363
scholarrs121918363
googlers121918363
pharmgkbrs121918363
gwascentralrs121918363
openSNPrs121918363
23andMers121918363
SNPshotrs121918363
SNPdbers121918363
MSV3drs121918363
GWAS Ctlgrs121918363
Max Magnitude0
OMIM300642
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918363(G;G)
Alt rs121918363(G;G)
Reference Rs121918363(A;A)
Significance Pathogenic
Disease Rolandic epilepsy with mental retardation and speech dyspraxia not specified
Variation info
Gene SRPX2
CLNDBN Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked not specified
Reversed 0
HGVS NC_000023.10:g.99922289A>G
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011522.8, RCV000189573.4,