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rs1057519436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519436(A;A)
Make rs1057519436(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position47846550
GeneDHX30
is asnp
is mentioned by
dbSNPrs1057519436
dbSNP (classic)rs1057519436
ClinGenrs1057519436
ebirs1057519436
HLIrs1057519436
Exacrs1057519436
Gnomadrs1057519436
Varsomers1057519436
LitVarrs1057519436
Maprs1057519436
PheGenIrs1057519436
Biobankrs1057519436
1000 genomesrs1057519436
hgdprs1057519436
ensemblrs1057519436
geneviewrs1057519436
scholarrs1057519436
googlers1057519436
pharmgkbrs1057519436
gwascentralrs1057519436
openSNPrs1057519436
23andMers1057519436
23andMe allrs1057519436
SNPshotrs1057519436
SNPdbers1057519436
MSV3drs1057519436
GWAS Ctlgrs1057519436
Max Magnitude0
ClinVar
Risk rs1057519436(A;A)
Alt rs1057519436(A;A)
Reference Rs1057519436(G;G)
Significance Pathogenic
Disease Microcephaly Oculomotor apraxia Seizures Short stature Strabismus Unsteady gait
Variation info
Gene DHX30
CLNDBN Microcephaly Oculomotor apraxia Seizures Short stature Strabismus Unsteady gait
Reversed 0
HGVS NC_000003.11:g.47888040G>A
CLNSRC
CLNACC RCV000416420.1,