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rs864622357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864622357(G;G)
Make rs864622357(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position103125195
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs864622357
dbSNP (classic)rs864622357
ClinGenrs864622357
ebirs864622357
HLIrs864622357
Exacrs864622357
Gnomadrs864622357
Varsomers864622357
LitVarrs864622357
Maprs864622357
PheGenIrs864622357
Biobankrs864622357
1000 genomesrs864622357
hgdprs864622357
ensemblrs864622357
geneviewrs864622357
scholarrs864622357
googlers864622357
pharmgkbrs864622357
gwascentralrs864622357
openSNPrs864622357
23andMers864622357
SNPshotrs864622357
SNPdbers864622357
MSV3drs864622357
GWAS Ctlgrs864622357
Max Magnitude0
ClinVar
Risk rs864622357(G;G)
Alt rs864622357(G;G)
Reference Rs864622357(T;T)
Significance Pathogenic
Disease Jeune thoracic dystrophy
Variation info
Gene DYNC2H1
CLNDBN Jeune thoracic dystrophy
Reversed 0
HGVS NC_000011.9:g.102995924T>G
CLNSRC
CLNACC RCV000206436.1,