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rs713993043

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs713993043(G;T)
Make rs713993043(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position101980380
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs713993043
ebirs713993043
HLIrs713993043
Exacrs713993043
Varsomers713993043
Maprs713993043
PheGenIrs713993043
hapmaprs713993043
1000 genomesrs713993043
hgdprs713993043
ensemblrs713993043
gopubmedrs713993043
geneviewrs713993043
scholarrs713993043
googlers713993043
pharmgkbrs713993043
gwascentralrs713993043
openSNPrs713993043
23andMers713993043
23andMe allrs713993043
SNP Nexus

SNPshotrs713993043
SNPdbers713993043
MSV3drs713993043
GWAS Ctlgrs713993043
Max Magnitude0
ClinVar
Risk rs713993043(T;T)
Alt rs713993043(T;T)
Reference rs713993043(G;G)
Significance Pathogenic
Disease not specified Spinal muscular atrophy
Variation info
Gene DYNC1H1
CLNDBN not specified Spinal muscular atrophy
Reversed 0
HGVS NC_000014.8:g.102446717G>A; NC_000014.8:g.102446717G>T
CLNSRC
CLNACC RCV000193618.1, RCV000149554.1,