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rs200095793

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200095793(A;A)
Make rs200095793(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position177393764
GeneSLC34A1
is asnp
is mentioned by
dbSNPrs200095793
ebirs200095793
HLIrs200095793
Exacrs200095793
Varsomers200095793
Maprs200095793
PheGenIrs200095793
hapmaprs200095793
1000 genomesrs200095793
hgdprs200095793
ensemblrs200095793
gopubmedrs200095793
geneviewrs200095793
scholarrs200095793
googlers200095793
pharmgkbrs200095793
gwascentralrs200095793
openSNPrs200095793
23andMers200095793
23andMe allrs200095793
SNP Nexus

SNPshotrs200095793
SNPdbers200095793
MSV3drs200095793
GWAS Ctlgrs200095793
Max Magnitude0
ClinVar
Risk rs200095793(A,T;A,T)
Alt rs200095793(A,T;A,T)
Reference rs200095793(G;G)
Significance Pathogenic
Disease Hypercalcemia
Variation info
Gene SLC34A1
CLNDBN Hypercalcemia, infantile, 2
Reversed 0
HGVS NC_000005.9:g.176820765G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000223671.1,