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rs775835429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs775835429(-;TC)
Make rs775835429(TC;TC)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position227702236
GeneSLC19A3
is asnp
is mentioned by
dbSNPrs775835429
dbSNP (classic)rs775835429
ClinGenrs775835429
ebirs775835429
HLIrs775835429
Exacrs775835429
Gnomadrs775835429
Varsomers775835429
LitVarrs775835429
Maprs775835429
PheGenIrs775835429
Biobankrs775835429
1000 genomesrs775835429
hgdprs775835429
ensemblrs775835429
geneviewrs775835429
scholarrs775835429
googlers775835429
pharmgkbrs775835429
gwascentralrs775835429
openSNPrs775835429
23andMers775835429
SNPshotrs775835429
SNPdbers775835429
MSV3drs775835429
GWAS Ctlgrs775835429
Max Magnitude0
ClinVar
Risk rs775835429(TC;TC)
Alt rs775835429(TC;TC)
Reference Rs775835429(-;-)
Significance Pathogenic
Disease Basal ganglia disease
Variation info
Gene SLC19A3
CLNDBN Basal ganglia disease, biotin-responsive
Reversed 0
HGVS NC_000002.11:g.228566953_228566954dupTC
CLNSRC
CLNACC RCV000408606.2,