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rs515726205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726205(C;T)
Make rs515726205(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position29702966
GeneC19orf12
is asnp
is mentioned by
dbSNPrs515726205
dbSNP (classic)rs515726205
ClinGenrs515726205
ebirs515726205
HLIrs515726205
Exacrs515726205
Gnomadrs515726205
Varsomers515726205
LitVarrs515726205
Maprs515726205
PheGenIrs515726205
Biobankrs515726205
1000 genomesrs515726205
hgdprs515726205
ensemblrs515726205
geneviewrs515726205
scholarrs515726205
googlers515726205
pharmgkbrs515726205
gwascentralrs515726205
openSNPrs515726205
23andMers515726205
SNPshotrs515726205
SNPdbers515726205
MSV3drs515726205
GWAS Ctlgrs515726205
Max Magnitude0
ClinVar
Risk rs515726205(T;T)
Alt rs515726205(T;T)
Reference Rs515726205(C;C)
Significance Pathogenic
Disease Neurodegeneration with brain iron accumulation 4 Adult-onset night blindness Dystonia Mental deterioration Peripheral visual field loss Tremor
Variation info
Gene C19orf12
CLNDBN Neurodegeneration with brain iron accumulation 4 Adult-onset night blindness Dystonia Mental deterioration Peripheral visual field loss Tremor
Reversed 0
HGVS NC_000019.9:g.30193873C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000119029.2, RCV000414809.1,