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rs398122396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCCC;TCCC) 0 common in clinvar
Make rs398122396(-;-)
Make rs398122396(-;TCCC)
ReferenceGRCh38 38.1/141
Chromosome8
Position42417931
GeneSLC20A2
is asnp
is mentioned by
dbSNPrs398122396
ebirs398122396
HLIrs398122396
Exacrs398122396
Varsomers398122396
Maprs398122396
PheGenIrs398122396
hapmaprs398122396
1000 genomesrs398122396
hgdprs398122396
ensemblrs398122396
gopubmedrs398122396
geneviewrs398122396
scholarrs398122396
googlers398122396
pharmgkbrs398122396
gwascentralrs398122396
openSNPrs398122396
23andMers398122396
23andMe allrs398122396
SNP Nexus

SNPshotrs398122396
SNPdbers398122396
MSV3drs398122396
GWAS Ctlgrs398122396
Max Magnitude0
ClinVar
Risk rs398122396(;)
Alt rs398122396(;)
Reference rs398122396(TCCC;TCCC)
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.42275449_42275452delGGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000066206.26,