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rs63750315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs63750315(C;C)
Make rs63750315(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position6469444
GenePLEKHG5
is asnp
is mentioned by
dbSNPrs63750315
ebirs63750315
HLIrs63750315
Exacrs63750315
Varsomers63750315
Maprs63750315
PheGenIrs63750315
hapmaprs63750315
1000 genomesrs63750315
hgdprs63750315
ensemblrs63750315
gopubmedrs63750315
geneviewrs63750315
scholarrs63750315
googlers63750315
pharmgkbrs63750315
gwascentralrs63750315
openSNPrs63750315
23andMers63750315
23andMe allrs63750315
SNP Nexus

SNPshotrs63750315
SNPdbers63750315
MSV3drs63750315
GWAS Ctlgrs63750315
Max Magnitude0
OMIM611101
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63750315(C;C)
Alt rs63750315(C;C)
Reference rs63750315(T;T)
Significance Pathogenic
Disease Distal spinal muscular atrophy
Variation info
Gene PLEKHG5
CLNDBN Distal spinal muscular atrophy, autosomal recessive 4
Reversed 1
HGVS NC_000001.10:g.6529504A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001074.2,



[PMID 17564964OA-icon.png] The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.