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rs587777173

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777173(A;A)
Make rs587777173(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position103174874
GeneNT5C2
is asnp
is mentioned by
dbSNPrs587777173
ebirs587777173
HLIrs587777173
Exacrs587777173
Varsomers587777173
Maprs587777173
PheGenIrs587777173
hapmaprs587777173
1000 genomesrs587777173
hgdprs587777173
ensemblrs587777173
gopubmedrs587777173
geneviewrs587777173
scholarrs587777173
googlers587777173
pharmgkbrs587777173
gwascentralrs587777173
openSNPrs587777173
23andMers587777173
23andMe allrs587777173
SNP Nexus

SNPshotrs587777173
SNPdbers587777173
MSV3drs587777173
GWAS Ctlgrs587777173
Max Magnitude0
ClinVar
Risk rs587777173(A,G;A,G)
Alt rs587777173(A,G;A,G)
Reference rs587777173(C;C)
Significance Pathogenic
Disease Spastic paraplegia 45
Variation info
Gene NT5C2
CLNDBN Spastic paraplegia 45, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.104934631G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087268.3,