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rs730882212

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882212(C;T)
Make rs730882212(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position130194199
GeneMZT2B, TUBA3E
is asnp
is mentioned by
dbSNPrs730882212
ebirs730882212
HLIrs730882212
Exacrs730882212
Varsomers730882212
Maprs730882212
PheGenIrs730882212
hapmaprs730882212
1000 genomesrs730882212
hgdprs730882212
ensemblrs730882212
gopubmedrs730882212
geneviewrs730882212
scholarrs730882212
googlers730882212
pharmgkbrs730882212
gwascentralrs730882212
openSNPrs730882212
23andMers730882212
23andMe allrs730882212
SNP Nexus

SNPshotrs730882212
SNPdbers730882212
MSV3drs730882212
GWAS Ctlgrs730882212
Max Magnitude0
ClinVar
Risk rs730882212(T;T)
Alt rs730882212(T;T)
Reference rs730882212(C;C)
Significance Probable-Pathogenic
Disease Global developmental delay Lissencephaly Primary microcephaly Seizures
Variation info
Gene MZT2B TUBA3E
CLNDBN Global developmental delay Lissencephaly Primary microcephaly Seizures
Reversed 1
HGVS NC_000002.11:g.130951772G>A
CLNSRC
CLNACC RCV000162120.1,