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rs121918611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918611(A;A)
Make rs121918611(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position177386473
GeneSLC34A1
is asnp
is mentioned by
dbSNPrs121918611
dbSNP (classic)rs121918611
ClinGenrs121918611
ebirs121918611
HLIrs121918611
Exacrs121918611
Gnomadrs121918611
Varsomers121918611
LitVarrs121918611
Maprs121918611
PheGenIrs121918611
Biobankrs121918611
1000 genomesrs121918611
hgdprs121918611
ensemblrs121918611
geneviewrs121918611
scholarrs121918611
googlers121918611
pharmgkbrs121918611
gwascentralrs121918611
openSNPrs121918611
23andMers121918611
SNPshotrs121918611
SNPdbers121918611
MSV3drs121918611
GWAS Ctlgrs121918611
Max Magnitude0
OMIM182309
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918611(A;A) rs121918611(C;C)
Alt rs121918611(A;A) rs121918611(C;C)
Reference Rs121918611(G;G)
Significance Pathogenic
Disease Nephrolithiasis/osteoporosis
Variation info
Gene SLC34A1
CLNDBN Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Reversed 0
HGVS NC_000005.9:g.176813474G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013795.25,