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rs1057518958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518958(-;-)
Make rs1057518958(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position232531353
GeneCHRND
is asnp
is mentioned by
dbSNPrs1057518958
dbSNP (old)rs1057518958
ClinGenrs1057518958
ebirs1057518958
HLIrs1057518958
Exacrs1057518958
Gnomadrs1057518958
Varsomers1057518958
Maprs1057518958
PheGenIrs1057518958
Biobankrs1057518958
1000 genomesrs1057518958
hgdprs1057518958
ensemblrs1057518958
gopubmedrs1057518958
geneviewrs1057518958
scholarrs1057518958
googlers1057518958
pharmgkbrs1057518958
gwascentralrs1057518958
openSNPrs1057518958
23andMers1057518958
23andMe allrs1057518958
SNPshotrs1057518958
SNPdbers1057518958
MSV3drs1057518958
GWAS Ctlgrs1057518958
Max Magnitude0
ClinVar
Risk rs1057518958(-;-)
Alt rs1057518958(-;-)
Reference Rs1057518958(T;T)
Significance Probable-Pathogenic
Disease Breathing dysregulation Dyspnea Muscle weakness Ptosis
Variation info
Gene CHRND
CLNDBN Breathing dysregulation Dyspnea Muscle weakness Ptosis
Reversed 0
HGVS NC_000002.11:g.233396063delT
CLNSRC
CLNACC RCV000415166.1,