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rs1057518957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518957(G;T)
Make rs1057518957(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position232535143
GeneCHRND
is asnp
is mentioned by
dbSNPrs1057518957
dbSNP (old)rs1057518957
ClinGenrs1057518957
ebirs1057518957
HLIrs1057518957
Exacrs1057518957
Gnomadrs1057518957
Varsomers1057518957
Maprs1057518957
PheGenIrs1057518957
Biobankrs1057518957
1000 genomesrs1057518957
hgdprs1057518957
ensemblrs1057518957
gopubmedrs1057518957
geneviewrs1057518957
scholarrs1057518957
googlers1057518957
pharmgkbrs1057518957
gwascentralrs1057518957
openSNPrs1057518957
23andMers1057518957
23andMe allrs1057518957
SNPshotrs1057518957
SNPdbers1057518957
MSV3drs1057518957
GWAS Ctlgrs1057518957
Max Magnitude0
ClinVar
Risk rs1057518957(T;T)
Alt rs1057518957(T;T)
Reference Rs1057518957(G;G)
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.233399853G>T
CLNSRC
CLNACC RCV000414846.1,