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rs104893960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893960(A;A)
Make rs104893960(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position10877296
GeneGCM2
is asnp
is mentioned by
dbSNPrs104893960
dbSNP (classic)rs104893960
ClinGenrs104893960
ebirs104893960
HLIrs104893960
Exacrs104893960
Gnomadrs104893960
Varsomers104893960
LitVarrs104893960
Maprs104893960
PheGenIrs104893960
Biobankrs104893960
1000 genomesrs104893960
hgdprs104893960
ensemblrs104893960
geneviewrs104893960
scholarrs104893960
googlers104893960
pharmgkbrs104893960
gwascentralrs104893960
openSNPrs104893960
23andMers104893960
SNPshotrs104893960
SNPdbers104893960
MSV3drs104893960
GWAS Ctlgrs104893960
Max Magnitude0
OMIM603716
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893960(A;A)
Alt rs104893960(A;A)
Reference Rs104893960(G;G)
Significance Pathogenic
Disease Hypoparathyroidism familial isolated
Variation info
Gene GCM2
CLNDBN Hypoparathyroidism familial isolated
Reversed 1
HGVS NC_000006.11:g.10877529C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006465.3,