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rs121918364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918364(A;C)
Make rs121918364(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position100662227
GeneSRPX2
is asnp
is mentioned by
dbSNPrs121918364
ebirs121918364
HLIrs121918364
Exacrs121918364
Varsomers121918364
Maprs121918364
PheGenIrs121918364
hapmaprs121918364
1000 genomesrs121918364
hgdprs121918364
ensemblrs121918364
gopubmedrs121918364
geneviewrs121918364
scholarrs121918364
googlers121918364
pharmgkbrs121918364
gwascentralrs121918364
openSNPrs121918364
23andMers121918364
23andMe allrs121918364
SNP Nexus

SNPshotrs121918364
SNPdbers121918364
MSV3drs121918364
GWAS Ctlgrs121918364
Max Magnitude0
OMIM300642
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918364(C;C)
Alt rs121918364(C;C)
Reference rs121918364(A;A)
Significance Pathogenic
Disease Rolandic epilepsy with mental retardation and speech dyspraxia
Variation info
Gene SRPX2
CLNDBN Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
Reversed 0
HGVS NC_000023.10:g.99917224A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011523.4,