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rs730882223

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882223(G;G)
Make rs730882223(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position184054736
GeneTSEN15
is asnp
is mentioned by
dbSNPrs730882223
ebirs730882223
HLIrs730882223
Exacrs730882223
Varsomers730882223
Maprs730882223
PheGenIrs730882223
hapmaprs730882223
1000 genomesrs730882223
hgdprs730882223
ensemblrs730882223
gopubmedrs730882223
geneviewrs730882223
scholarrs730882223
googlers730882223
pharmgkbrs730882223
gwascentralrs730882223
openSNPrs730882223
23andMers730882223
23andMe allrs730882223
SNP Nexus

SNPshotrs730882223
SNPdbers730882223
MSV3drs730882223
GWAS Ctlgrs730882223
Max Magnitude0
ClinVar
Risk rs730882223(G;G)
Alt rs730882223(G;G)
Reference rs730882223(T;T)
Significance Pathogenic
Disease Global developmental delay Primary microcephaly Seizures Pontocerebellar hypoplasia
Variation info
Gene TSEN15
CLNDBN Global developmental delay Primary microcephaly Seizures Pontocerebellar hypoplasia, type 2f
Reversed 0
HGVS NC_000001.10:g.184023870T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000162135.1, RCV000234989.1,