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rs769409705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769409705(G;T)
Make rs769409705(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position177386492
GeneSLC34A1
is asnp
is mentioned by
dbSNPrs769409705
dbSNP (classic)rs769409705
ClinGenrs769409705
ebirs769409705
HLIrs769409705
Exacrs769409705
Gnomadrs769409705
Varsomers769409705
LitVarrs769409705
Maprs769409705
PheGenIrs769409705
Biobankrs769409705
1000 genomesrs769409705
hgdprs769409705
ensemblrs769409705
geneviewrs769409705
scholarrs769409705
googlers769409705
pharmgkbrs769409705
gwascentralrs769409705
openSNPrs769409705
23andMers769409705
SNPshotrs769409705
SNPdbers769409705
MSV3drs769409705
GWAS Ctlgrs769409705
Max Magnitude0
ClinVar
Risk rs769409705(C;C) rs769409705(T;T)
Alt rs769409705(C;C) rs769409705(T;T)
Reference Rs769409705(G;G)
Significance Pathogenic
Disease Hypercalcemia
Variation info
Gene SLC34A1
CLNDBN Hypercalcemia, infantile, 2
Reversed 0
HGVS NC_000005.9:g.176813493G>C; NC_000005.9:g.176813493G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000223665.2, RCV000223664.2,