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rs786205860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205860(A;A)
Make rs786205860(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position37057420
GeneKCTD17
is asnp
is mentioned by
dbSNPrs786205860
dbSNP (classic)rs786205860
ClinGenrs786205860
ebirs786205860
HLIrs786205860
Exacrs786205860
Gnomadrs786205860
Varsomers786205860
LitVarrs786205860
Maprs786205860
PheGenIrs786205860
Biobankrs786205860
1000 genomesrs786205860
hgdprs786205860
ensemblrs786205860
geneviewrs786205860
scholarrs786205860
googlers786205860
pharmgkbrs786205860
gwascentralrs786205860
openSNPrs786205860
23andMers786205860
SNPshotrs786205860
SNPdbers786205860
MSV3drs786205860
GWAS Ctlgrs786205860
Max Magnitude0
ClinVar
Risk rs786205860(A;A)
Alt rs786205860(A;A)
Reference Rs786205860(G;G)
Significance Pathogenic
Disease Dystonia 26
Variation info
Gene KCTD17
CLNDBN Dystonia 26, myoclonic
Reversed 0
HGVS NC_000022.10:g.37453460G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000171554.2,