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rs587777696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777696(C;T)
Make rs587777696(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position4585316
GeneSLC1A1, SPATA6L
is asnp
is mentioned by
dbSNPrs587777696
ebirs587777696
HLIrs587777696
Exacrs587777696
Varsomers587777696
Maprs587777696
PheGenIrs587777696
hapmaprs587777696
1000 genomesrs587777696
hgdprs587777696
ensemblrs587777696
gopubmedrs587777696
geneviewrs587777696
scholarrs587777696
googlers587777696
pharmgkbrs587777696
gwascentralrs587777696
openSNPrs587777696
23andMers587777696
23andMe allrs587777696
SNP Nexus

SNPshotrs587777696
SNPdbers587777696
MSV3drs587777696
GWAS Ctlgrs587777696
Max Magnitude0
ClinVar
Risk rs587777696(T;T)
Alt rs587777696(T;T)
Reference rs587777696(C;C)
Significance Pathogenic
Disease Dicarboxylic aminoaciduria
Variation info
Gene SPATA6L SLC1A1
CLNDBN Dicarboxylic aminoaciduria
Reversed 0
HGVS NC_000009.11:g.4585316C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000143976.3,