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rs730882219

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882219(C;C)
Make rs730882219(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position745591
GeneGEMIN4
is asnp
is mentioned by
dbSNPrs730882219
ebirs730882219
HLIrs730882219
Exacrs730882219
Varsomers730882219
Maprs730882219
PheGenIrs730882219
hapmaprs730882219
1000 genomesrs730882219
hgdprs730882219
ensemblrs730882219
gopubmedrs730882219
geneviewrs730882219
scholarrs730882219
googlers730882219
pharmgkbrs730882219
gwascentralrs730882219
openSNPrs730882219
23andMers730882219
23andMe allrs730882219
SNP Nexus

SNPshotrs730882219
SNPdbers730882219
MSV3drs730882219
GWAS Ctlgrs730882219
Max Magnitude0
ClinVar
Risk rs730882219(C;C)
Alt rs730882219(C;C)
Reference rs730882219(T;T)
Significance Probable-Pathogenic
Disease Congenital cataract Global developmental delay Microcephaly Severe dystonia
Variation info
Gene GEMIN4
CLNDBN Congenital cataract Global developmental delay Microcephaly Severe dystonia
Reversed 1
HGVS NC_000017.10:g.648831A>G
CLNSRC
CLNACC RCV000162129.1,