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rs797045178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045178(C;C)
Make rs797045178(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position101985931
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs797045178
dbSNP (classic)rs797045178
ClinGenrs797045178
ebirs797045178
HLIrs797045178
Exacrs797045178
Gnomadrs797045178
Varsomers797045178
LitVarrs797045178
Maprs797045178
PheGenIrs797045178
Biobankrs797045178
1000 genomesrs797045178
hgdprs797045178
ensemblrs797045178
geneviewrs797045178
scholarrs797045178
googlers797045178
pharmgkbrs797045178
gwascentralrs797045178
openSNPrs797045178
23andMers797045178
SNPshotrs797045178
SNPdbers797045178
MSV3drs797045178
GWAS Ctlgrs797045178
Max Magnitude0
ClinVar
Risk rs797045178(C;C)
Alt rs797045178(C;C)
Reference Rs797045178(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene DYNC1H1
CLNDBN Mental retardation, autosomal dominant 13
Reversed 0
HGVS NC_000014.8:g.102452268G>C
CLNSRC
CLNACC RCV000191046.1,