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rs606231237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231237(G;G)
Make rs606231237(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position12097780
GeneDHTKD1
is asnp
is mentioned by
dbSNPrs606231237
dbSNP (classic)rs606231237
ClinGenrs606231237
ebirs606231237
HLIrs606231237
Exacrs606231237
Gnomadrs606231237
Varsomers606231237
LitVarrs606231237
Maprs606231237
PheGenIrs606231237
Biobankrs606231237
1000 genomesrs606231237
hgdprs606231237
ensemblrs606231237
geneviewrs606231237
scholarrs606231237
googlers606231237
pharmgkbrs606231237
gwascentralrs606231237
openSNPrs606231237
23andMers606231237
SNPshotrs606231237
SNPdbers606231237
MSV3drs606231237
GWAS Ctlgrs606231237
Max Magnitude0
ClinVar
Risk rs606231237(G;G)
Alt rs606231237(G;G)
Reference Rs606231237(T;T)
Significance 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.12139779T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032766.5,