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rs121918610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs121918610(GC;TT)
Make rs121918610(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome5
Position177386019
GeneSLC34A1
is asnp
is mentioned by
dbSNPrs121918610
dbSNP (classic)rs121918610
ClinGenrs121918610
ebirs121918610
HLIrs121918610
Exacrs121918610
Gnomadrs121918610
Varsomers121918610
LitVarrs121918610
Maprs121918610
PheGenIrs121918610
Biobankrs121918610
1000 genomesrs121918610
hgdprs121918610
ensemblrs121918610
geneviewrs121918610
scholarrs121918610
googlers121918610
pharmgkbrs121918610
gwascentralrs121918610
openSNPrs121918610
23andMers121918610
SNPshotrs121918610
SNPdbers121918610
MSV3drs121918610
GWAS Ctlgrs121918610
Max Magnitude0
OMIM182309
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918610(TT;TT)
Alt rs121918610(TT;TT)
Reference Rs121918610(GC;GC)
Significance Pathogenic
Disease Nephrolithiasis/osteoporosis
Variation info
Gene SLC34A1
CLNDBN Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Reversed 0
HGVS NC_000005.9:g.176813020_176813021delGCinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013794.18,