Have questions? Visit https://www.reddit.com/r/SNPedia

rs754919042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs754919042(A;A)
Make rs754919042(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position103173242
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs754919042
dbSNP (classic)rs754919042
ClinGenrs754919042
ebirs754919042
HLIrs754919042
Exacrs754919042
Gnomadrs754919042
Varsomers754919042
LitVarrs754919042
Maprs754919042
PheGenIrs754919042
Biobankrs754919042
1000 genomesrs754919042
hgdprs754919042
ensemblrs754919042
geneviewrs754919042
scholarrs754919042
googlers754919042
pharmgkbrs754919042
gwascentralrs754919042
openSNPrs754919042
23andMers754919042
SNPshotrs754919042
SNPdbers754919042
MSV3drs754919042
GWAS Ctlgrs754919042
Max Magnitude0
ClinVar
Risk rs754919042(A;A) rs754919042(T;T)
Alt rs754919042(A;A) rs754919042(T;T)
Reference Rs754919042(C;C)
Significance Pathogenic
Disease Jeune thoracic dystrophy
Variation info
Gene DYNC2H1
CLNDBN Jeune thoracic dystrophy
Reversed 0
HGVS NC_000011.9:g.103043971C>A
CLNSRC
CLNACC RCV000228263.2,