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rs201304511

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201304511(A;A)
Make rs201304511(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position177387874
GeneSLC34A1
is asnp
is mentioned by
dbSNPrs201304511
ebirs201304511
HLIrs201304511
Exacrs201304511
Varsomers201304511
Maprs201304511
PheGenIrs201304511
hapmaprs201304511
1000 genomesrs201304511
hgdprs201304511
ensemblrs201304511
gopubmedrs201304511
geneviewrs201304511
scholarrs201304511
googlers201304511
pharmgkbrs201304511
gwascentralrs201304511
openSNPrs201304511
23andMers201304511
23andMe allrs201304511
SNP Nexus

SNPshotrs201304511
SNPdbers201304511
MSV3drs201304511
GWAS Ctlgrs201304511
Max Magnitude0
ClinVar
Risk rs201304511(A;A)
Alt rs201304511(A;A)
Reference rs201304511(G;G)
Significance Pathogenic
Disease Hypercalcemia
Variation info
Gene SLC34A1
CLNDBN Hypercalcemia, infantile, 2
Reversed 0
HGVS NC_000005.9:g.176814875G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000223675.1,