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rs730882222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882222(G;G)
Make rs730882222(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position6707026
GeneSLC13A5
is asnp
is mentioned by
dbSNPrs730882222
dbSNP (classic)rs730882222
ClinGenrs730882222
ebirs730882222
HLIrs730882222
Exacrs730882222
Gnomadrs730882222
Varsomers730882222
LitVarrs730882222
Maprs730882222
PheGenIrs730882222
Biobankrs730882222
1000 genomesrs730882222
hgdprs730882222
ensemblrs730882222
geneviewrs730882222
scholarrs730882222
googlers730882222
pharmgkbrs730882222
gwascentralrs730882222
openSNPrs730882222
23andMers730882222
SNPshotrs730882222
SNPdbers730882222
MSV3drs730882222
GWAS Ctlgrs730882222
Max Magnitude0
ClinVar
Risk rs730882222(G;G)
Alt rs730882222(G;G)
Reference Rs730882222(T;T)
Significance Probable-Pathogenic
Disease Chronic kidney disease Global developmental delay Seizures
Variation info
Gene SLC13A5
CLNDBN Chronic kidney disease Global developmental delay Seizures
Reversed 1
HGVS NC_000017.10:g.6610345A>C
CLNSRC
CLNACC RCV000162134.1,