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rs387906654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906654(C;T)
Make rs387906654(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position42428768
GeneSLC20A2
is asnp
is mentioned by
dbSNPrs387906654
ebirs387906654
HLIrs387906654
Exacrs387906654
Varsomers387906654
Maprs387906654
PheGenIrs387906654
hapmaprs387906654
1000 genomesrs387906654
hgdprs387906654
ensemblrs387906654
gopubmedrs387906654
geneviewrs387906654
scholarrs387906654
googlers387906654
pharmgkbrs387906654
gwascentralrs387906654
openSNPrs387906654
23andMers387906654
23andMe allrs387906654
SNP Nexus

SNPshotrs387906654
SNPdbers387906654
MSV3drs387906654
GWAS Ctlgrs387906654
Max Magnitude0
ClinVar
Risk rs387906654(T;T)
Alt rs387906654(T;T)
Reference rs387906654(C;C)
Significance Pathogenic
Disease Idiopathic basal ganglia calcification 1
Variation info
Gene SLC20A2
CLNDBN Idiopathic basal ganglia calcification 1
Reversed 1
HGVS NC_000008.10:g.42286286G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022666.26,