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rs1060499733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499733(A;G)
Make rs1060499733(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position47846757
GeneDHX30
is asnp
is mentioned by
dbSNPrs1060499733
dbSNP (old)rs1060499733
ClinGenrs1060499733
ebirs1060499733
HLIrs1060499733
Exacrs1060499733
Gnomadrs1060499733
Varsomers1060499733
Maprs1060499733
PheGenIrs1060499733
Biobankrs1060499733
1000 genomesrs1060499733
hgdprs1060499733
ensemblrs1060499733
gopubmedrs1060499733
geneviewrs1060499733
scholarrs1060499733
googlers1060499733
pharmgkbrs1060499733
gwascentralrs1060499733
openSNPrs1060499733
23andMers1060499733
23andMe allrs1060499733
SNPshotrs1060499733
SNPdbers1060499733
MSV3drs1060499733
GWAS Ctlgrs1060499733
Max Magnitude0
ClinVar
Risk rs1060499733(G;G)
Alt rs1060499733(G;G)
Reference Rs1060499733(A;A)
Significance Pathogenic
Disease Delayed speech and language development Global developmental delay Hearing impairment Microcephaly Muscular hypotonia of the trunk Sleep disturbance Strabismus
Variation info
Gene DHX30
CLNDBN Delayed speech and language development Global developmental delay Hearing impairment Microcephaly Muscular hypotonia of the trunk Sleep disturbance Strabismus
Reversed 0
HGVS NC_000003.11:g.47888247A>G
CLNSRC
CLNACC RCV000454247.1,