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rs777676129

From SNPedia

Orientationplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs777676129(-;-)
Make rs777676129(-;TTC)
Make rs777676129(TTC;TTC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position54172928
GeneCYP24A1
is asnp
is mentioned by
dbSNPrs777676129
ebirs777676129
HLIrs777676129
Exacrs777676129
Varsomers777676129
Maprs777676129
PheGenIrs777676129
hapmaprs777676129
1000 genomesrs777676129
hgdprs777676129
ensemblrs777676129
gopubmedrs777676129
geneviewrs777676129
scholarrs777676129
googlers777676129
pharmgkbrs777676129
gwascentralrs777676129
openSNPrs777676129
23andMers777676129
23andMe allrs777676129
SNP Nexus

SNPshotrs777676129
SNPdbers777676129
MSV3drs777676129
GWAS Ctlgrs777676129
Max Magnitude0
ClinVar
Risk rs777676129(;)
Alt rs777676129(;)
Reference rs777676129(CTT;CTT)
Significance Pathogenic
Disease Idiopathic hypercalcemia of infancy
Variation info
Gene CYP24A1
CLNDBN Idiopathic hypercalcemia of infancy
Reversed 0
HGVS NC_000020.10:g.52789467_52789469delCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000022527.28,