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rs142287570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs142287570(G;G)
Make rs142287570(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position10874335
GeneGCM2
is asnp
is mentioned by
dbSNPrs142287570
dbSNP (old)rs142287570
ClinGenrs142287570
ebirs142287570
HLIrs142287570
Exacrs142287570
Gnomadrs142287570
Varsomers142287570
LitVarrs142287570
Maprs142287570
PheGenIrs142287570
Biobankrs142287570
1000 genomesrs142287570
hgdprs142287570
ensemblrs142287570
gopubmedrs142287570
geneviewrs142287570
scholarrs142287570
googlers142287570
pharmgkbrs142287570
gwascentralrs142287570
openSNPrs142287570
23andMers142287570
23andMe allrs142287570
SNPshotrs142287570
SNPdbers142287570
MSV3drs142287570
GWAS Ctlgrs142287570
Max Magnitude0
ClinVar
Risk rs142287570(G;G)
Alt rs142287570(G;G)
Reference Rs142287570(T;T)
Significance Pathogenic
Disease Hypoparathyroidism familial isolated Hyperparathyroidism 4
Variation info
Gene GCM2
CLNDBN Hypoparathyroidism familial isolated Hyperparathyroidism 4
Reversed 0
HGVS NC_000006.11:g.10874568T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000379467.1, RCV000417069.1,