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rs121918554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918554(A;G)
Make rs121918554(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position93101615
GeneSAMD9
is asnp
is mentioned by
dbSNPrs121918554
dbSNP (classic)rs121918554
ClinGenrs121918554
ebirs121918554
HLIrs121918554
Exacrs121918554
Gnomadrs121918554
Varsomers121918554
LitVarrs121918554
Maprs121918554
PheGenIrs121918554
Biobankrs121918554
1000 genomesrs121918554
hgdprs121918554
ensemblrs121918554
geneviewrs121918554
scholarrs121918554
googlers121918554
pharmgkbrs121918554
gwascentralrs121918554
openSNPrs121918554
23andMers121918554
SNPshotrs121918554
SNPdbers121918554
MSV3drs121918554
GWAS Ctlgrs121918554
Max Magnitude0
OMIM610456
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918554(G;G)
Alt rs121918554(G;G)
Reference Rs121918554(A;A)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene SAMD9
CLNDBN Tumoral calcinosis, familial, normophosphatemic
Reversed 1
HGVS NC_000007.13:g.92730928T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001288.3,