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rs200133991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200133991(C;T)
Make rs200133991(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position29708290
GeneC19orf12
is asnp
is mentioned by
dbSNPrs200133991
dbSNP (old)rs200133991
ClinGenrs200133991
ebirs200133991
HLIrs200133991
Exacrs200133991
Varsomers200133991
Maprs200133991
PheGenIrs200133991
Biobankrs200133991
1000 genomesrs200133991
hgdprs200133991
ensemblrs200133991
gopubmedrs200133991
geneviewrs200133991
scholarrs200133991
googlers200133991
pharmgkbrs200133991
gwascentralrs200133991
openSNPrs200133991
23andMers200133991
23andMe allrs200133991
SNP Nexus

SNPshotrs200133991
SNPdbers200133991
MSV3drs200133991
GWAS Ctlgrs200133991
Max Magnitude0
ClinVar
Risk rs200133991(T;T)
Alt rs200133991(T;T)
Reference Rs200133991(C;C)
Significance Probable-Pathogenic
Disease Brain iron accummulation Neurodegeneration Neurodegeneration with brain iron accumulation 4
Variation info
Gene C19orf12
CLNDBN Brain iron accummulation Neurodegeneration Neurodegeneration with brain iron accumulation 4
Reversed 0
HGVS NC_000019.9:g.30199197C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000162119.1, RCV000292174.1,