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rs1057519439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519439(C;C)
Make rs1057519439(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position195787135
GeneDNAH7
is asnp
is mentioned by
dbSNPrs1057519439
dbSNP (classic)rs1057519439
ClinGenrs1057519439
ebirs1057519439
HLIrs1057519439
Exacrs1057519439
Gnomadrs1057519439
Varsomers1057519439
LitVarrs1057519439
Maprs1057519439
PheGenIrs1057519439
Biobankrs1057519439
1000 genomesrs1057519439
hgdprs1057519439
ensemblrs1057519439
geneviewrs1057519439
scholarrs1057519439
googlers1057519439
pharmgkbrs1057519439
gwascentralrs1057519439
openSNPrs1057519439
23andMers1057519439
23andMe allrs1057519439
SNPshotrs1057519439
SNPdbers1057519439
MSV3drs1057519439
GWAS Ctlgrs1057519439
Max Magnitude0
ClinVar
Risk rs1057519439(C;C)
Alt rs1057519439(C;C)
Reference Rs1057519439(T;T)
Significance Pathogenic
Disease Abnormal muscle tone Abnormality of the basal ganglia Dyspnea Hypoplasia of the corpus callosum Seizures
Variation info
Gene DNAH7
CLNDBN Abnormal muscle tone Abnormality of the basal ganglia Dyspnea Hypoplasia of the corpus callosum Seizures
Reversed 1
HGVS NC_000002.11:g.196651859A>G
CLNSRC
CLNACC RCV000416423.1,