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rs28933683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933683(A;A)
Make rs28933683(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153870854
GeneL1CAM
is asnp
is mentioned by
dbSNPrs28933683
ebirs28933683
HLIrs28933683
Exacrs28933683
Varsomers28933683
Maprs28933683
PheGenIrs28933683
hapmaprs28933683
1000 genomesrs28933683
hgdprs28933683
ensemblrs28933683
gopubmedrs28933683
geneviewrs28933683
scholarrs28933683
googlers28933683
pharmgkbrs28933683
gwascentralrs28933683
openSNPrs28933683
23andMers28933683
23andMe allrs28933683
SNP Nexus

SNPshotrs28933683
SNPdbers28933683
MSV3drs28933683
GWAS Ctlgrs28933683
Max Magnitude0
OMIM308840
DescMASA SYNDROME
Variant0004
Relatedalso


ClinVar
Risk rs28933683(A,G,T;A,G,T)
Alt rs28933683(A,G,T;A,G,T)
Reference rs28933683(C;C)
Significance Pathogenic
Disease not provided Spastic paraplegia 1
Variation info
Gene L1CAM
CLNDBN not provided Spastic paraplegia 1
Reversed 1
HGVS NC_000023.10:g.153136309G>A; NC_000023.10:g.153136309G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000078741.4, RCV000010669.2,