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

rs879253979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253979(C;G)
Make rs879253979(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position101979951
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs879253979
dbSNP (classic)rs879253979
ClinGenrs879253979
ebirs879253979
HLIrs879253979
Exacrs879253979
Gnomadrs879253979
Varsomers879253979
LitVarrs879253979
Maprs879253979
PheGenIrs879253979
Biobankrs879253979
1000 genomesrs879253979
hgdprs879253979
ensemblrs879253979
geneviewrs879253979
scholarrs879253979
googlers879253979
pharmgkbrs879253979
gwascentralrs879253979
openSNPrs879253979
23andMers879253979
SNPshotrs879253979
SNPdbers879253979
MSV3drs879253979
GWAS Ctlgrs879253979
Max Magnitude0
ClinVar
Risk rs879253979(G;G) rs879253979(T;T)
Alt rs879253979(G;G) rs879253979(T;T)
Reference Rs879253979(C;C)
Significance Probable-Pathogenic
Disease not specified Distal lower limb amyotrophy Hammertoe Myopathy Pes cavus
Variation info
Gene DYNC1H1
CLNDBN not specified Distal lower limb amyotrophy Hammertoe Myopathy Pes cavus
Reversed 0
HGVS NC_000014.8:g.102446288C>G; NC_000014.8:g.102446288C>T
CLNSRC
CLNACC RCV000235525.1, RCV000414974.1,