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rs797044901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044901(A;A)
Make rs797044901(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position102002694
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs797044901
dbSNP (classic)rs797044901
ClinGenrs797044901
ebirs797044901
HLIrs797044901
Exacrs797044901
Gnomadrs797044901
Varsomers797044901
LitVarrs797044901
Maprs797044901
PheGenIrs797044901
Biobankrs797044901
1000 genomesrs797044901
hgdprs797044901
ensemblrs797044901
geneviewrs797044901
scholarrs797044901
googlers797044901
pharmgkbrs797044901
gwascentralrs797044901
openSNPrs797044901
23andMers797044901
SNPshotrs797044901
SNPdbers797044901
MSV3drs797044901
GWAS Ctlgrs797044901
Max Magnitude0
ClinVar
Risk rs797044901(A;A) rs797044901(T;T)
Alt rs797044901(A;A) rs797044901(T;T)
Reference Rs797044901(G;G)
Significance Pathogenic
Disease Inborn genetic diseases not provided Mental retardation
Variation info
Gene DYNC1H1
CLNDBN Inborn genetic diseases not provided Mental retardation, autosomal dominant 13
Reversed 0
HGVS NC_000014.8:g.102469031G>A; NC_000014.8:g.102469031G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000190726.1, RCV000236127.1, RCV000196858.1,