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rs797045529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045529(C;C)
Make rs797045529(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position102038825
GeneDYNC1H1, LOC107984661
is asnp
is mentioned by
dbSNPrs797045529
dbSNP (classic)rs797045529
ClinGenrs797045529
ebirs797045529
HLIrs797045529
Exacrs797045529
Gnomadrs797045529
Varsomers797045529
LitVarrs797045529
Maprs797045529
PheGenIrs797045529
Biobankrs797045529
1000 genomesrs797045529
hgdprs797045529
ensemblrs797045529
geneviewrs797045529
scholarrs797045529
googlers797045529
pharmgkbrs797045529
gwascentralrs797045529
openSNPrs797045529
23andMers797045529
SNPshotrs797045529
SNPdbers797045529
MSV3drs797045529
GWAS Ctlgrs797045529
Max Magnitude0
ClinVar
Risk rs797045529(A;A) rs797045529(C;C)
Alt rs797045529(A;A) rs797045529(C;C)
Reference Rs797045529(G;G)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene DYNC1H1
CLNDBN Mental retardation, autosomal dominant 13
Reversed 0
HGVS NC_000014.8:g.102505162G>C
CLNSRC
CLNACC RCV000193672.1,