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rs1057518935

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518935(G;G)
Make rs1057518935(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position101980418
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs1057518935
dbSNP (old)rs1057518935
ClinGenrs1057518935
ebirs1057518935
HLIrs1057518935
Exacrs1057518935
Gnomadrs1057518935
Varsomers1057518935
Maprs1057518935
PheGenIrs1057518935
Biobankrs1057518935
1000 genomesrs1057518935
hgdprs1057518935
ensemblrs1057518935
gopubmedrs1057518935
geneviewrs1057518935
scholarrs1057518935
googlers1057518935
pharmgkbrs1057518935
gwascentralrs1057518935
openSNPrs1057518935
23andMers1057518935
23andMe allrs1057518935
SNPshotrs1057518935
SNPdbers1057518935
MSV3drs1057518935
GWAS Ctlgrs1057518935
Max Magnitude0
ClinVar
Risk rs1057518935(G;G)
Alt rs1057518935(G;G)
Reference Rs1057518935(T;T)
Significance Probable-Pathogenic
Disease Distal lower limb muscle weakness
Variation info
Gene DYNC1H1
CLNDBN Distal lower limb muscle weakness
Reversed 0
HGVS NC_000014.8:g.102446755T>G
CLNSRC
CLNACC RCV000415281.1,