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rs730882203

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882203(C;T)
Make rs730882203(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position46510953
GeneDMBX1
is asnp
is mentioned by
dbSNPrs730882203
ebirs730882203
HLIrs730882203
Exacrs730882203
Varsomers730882203
Maprs730882203
PheGenIrs730882203
hapmaprs730882203
1000 genomesrs730882203
hgdprs730882203
ensemblrs730882203
gopubmedrs730882203
geneviewrs730882203
scholarrs730882203
googlers730882203
pharmgkbrs730882203
gwascentralrs730882203
openSNPrs730882203
23andMers730882203
23andMe allrs730882203
SNP Nexus

SNPshotrs730882203
SNPdbers730882203
MSV3drs730882203
GWAS Ctlgrs730882203
Max Magnitude0
ClinVar
Risk rs730882203(T;T)
Alt rs730882203(T;T)
Reference rs730882203(C;C)
Significance Probable-Pathogenic
Disease Global developmental delay Hearing impairment Hypermetropia Muscular hypotonia Seizures Strabismus
Variation info
Gene DMBX1
CLNDBN Global developmental delay Hearing impairment Hypermetropia Muscular hypotonia Seizures Strabismus
Reversed 0
HGVS NC_000001.10:g.46976625C>T
CLNSRC
CLNACC RCV000162107.1,