Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882247

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882247(A;G)
Make rs730882247(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position50277743
GeneTMEM92
is asnp
is mentioned by
dbSNPrs730882247
ebirs730882247
HLIrs730882247
Exacrs730882247
Varsomers730882247
Maprs730882247
PheGenIrs730882247
hapmaprs730882247
1000 genomesrs730882247
hgdprs730882247
ensemblrs730882247
gopubmedrs730882247
geneviewrs730882247
scholarrs730882247
googlers730882247
pharmgkbrs730882247
gwascentralrs730882247
openSNPrs730882247
23andMers730882247
23andMe allrs730882247
SNP Nexus

SNPshotrs730882247
SNPdbers730882247
MSV3drs730882247
GWAS Ctlgrs730882247
Max Magnitude0
ClinVar
Risk rs730882247(G;G)
Alt rs730882247(G;G)
Reference rs730882247(A;A)
Significance Probable-Pathogenic
Disease Bilateral squint Cerebellar atrophy Global developmental delay Hydrocephalus
Variation info
Gene TMEM92
CLNDBN Bilateral squint Cerebellar atrophy Global developmental delay Hydrocephalus
Reversed 0
HGVS NC_000017.10:g.48355104A>G
CLNSRC
CLNACC RCV000162187.1,