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rs672601249

From SNPedia

Orientationplus
Geno Mag Summary
(CAT;CAT) 0 common in clinvar
Make rs672601249(-;-)
Make rs672601249(-;ATC)
Make rs672601249(ATC;ATC)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position3115065
GeneGNA11
is asnp
is mentioned by
dbSNPrs672601249
ebirs672601249
HLIrs672601249
Exacrs672601249
Varsomers672601249
Maprs672601249
PheGenIrs672601249
hapmaprs672601249
1000 genomesrs672601249
hgdprs672601249
ensemblrs672601249
gopubmedrs672601249
geneviewrs672601249
scholarrs672601249
googlers672601249
pharmgkbrs672601249
gwascentralrs672601249
openSNPrs672601249
23andMers672601249
23andMe allrs672601249
SNP Nexus

SNPshotrs672601249
SNPdbers672601249
MSV3drs672601249
GWAS Ctlgrs672601249
Max Magnitude0
ClinVar
Risk rs672601249(;)
Alt rs672601249(;)
Reference rs672601249(CAT;CAT)
Significance Pathogenic
Disease Hypocalciuric hypercalcemia
Variation info
Gene GNA11
CLNDBN Hypocalciuric hypercalcemia, familial, type II
Reversed 0
HGVS NC_000019.9:g.3115063_3115065delATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000054474.26,