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rs770649540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770649540(C;G)
Make rs770649540(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position12118846
GeneDHTKD1
is asnp
is mentioned by
dbSNPrs770649540
dbSNP (classic)rs770649540
ClinGenrs770649540
ebirs770649540
HLIrs770649540
Exacrs770649540
Gnomadrs770649540
Varsomers770649540
LitVarrs770649540
Maprs770649540
PheGenIrs770649540
Biobankrs770649540
1000 genomesrs770649540
hgdprs770649540
ensemblrs770649540
geneviewrs770649540
scholarrs770649540
googlers770649540
pharmgkbrs770649540
gwascentralrs770649540
openSNPrs770649540
23andMers770649540
SNPshotrs770649540
SNPdbers770649540
MSV3drs770649540
GWAS Ctlgrs770649540
Max Magnitude0
ClinVar
Risk rs770649540(G;G) rs770649540(T;T)
Alt rs770649540(G;G) rs770649540(T;T)
Reference Rs770649540(C;C)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene DHTKD1
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2Q
Reversed 0
HGVS NC_000010.10:g.12160845C>T
CLNSRC
CLNACC RCV000198805.1,