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rs587777174

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777174(A;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position103101271
GeneNT5C2
is asnp
is mentioned by
dbSNPrs587777174
dbSNP (classic)rs587777174
ClinGenrs587777174
ebirs587777174
HLIrs587777174
Exacrs587777174
Gnomadrs587777174
Varsomers587777174
LitVarrs587777174
Maprs587777174
PheGenIrs587777174
Biobankrs587777174
1000 genomesrs587777174
hgdprs587777174
ensemblrs587777174
geneviewrs587777174
scholarrs587777174
googlers587777174
pharmgkbrs587777174
gwascentralrs587777174
openSNPrs587777174
23andMers587777174
SNPshotrs587777174
SNPdbers587777174
MSV3drs587777174
GWAS Ctlgrs587777174
Max Magnitude0
ClinVar
Risk Rs587777174(T;T)
Alt Rs587777174(T;T)
Reference Rs587777174(A;A)
Significance Pathogenic
Disease Spastic paraplegia 45
Variation info
Gene NT5C2
CLNDBN Spastic paraplegia 45, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.104861028T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087271.3,