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rs730882200

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882200(-;-)
Make rs730882200(-;C)
Make rs730882200(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position48953608
GeneARFGEF2
is asnp
is mentioned by
dbSNPrs730882200
ebirs730882200
HLIrs730882200
Exacrs730882200
Varsomers730882200
Maprs730882200
PheGenIrs730882200
hapmaprs730882200
1000 genomesrs730882200
hgdprs730882200
ensemblrs730882200
gopubmedrs730882200
geneviewrs730882200
scholarrs730882200
googlers730882200
pharmgkbrs730882200
gwascentralrs730882200
openSNPrs730882200
23andMers730882200
23andMe allrs730882200
SNP Nexus

SNPshotrs730882200
SNPdbers730882200
MSV3drs730882200
GWAS Ctlgrs730882200
Max Magnitude0
ClinVar
Risk rs730882200(C;C)
Alt rs730882200(C;C)
Reference rs730882200(;)
Significance Probable-Pathogenic
Disease Global developmental delay Hydrocephalus Seizures
Variation info
Gene ARFGEF2
CLNDBN Global developmental delay Hydrocephalus Seizures
Reversed 0
HGVS NC_000020.10:g.47570145dupC
CLNSRC King Faisal Specialist Hospital and Research Center
CLNACC RCV000162104.1,