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rs398122523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122523(A;A)
Make rs398122523(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position48976200
GeneARFGEF2
is asnp
is mentioned by
dbSNPrs398122523
ebirs398122523
HLIrs398122523
Exacrs398122523
Varsomers398122523
Maprs398122523
PheGenIrs398122523
hapmaprs398122523
1000 genomesrs398122523
hgdprs398122523
ensemblrs398122523
gopubmedrs398122523
geneviewrs398122523
scholarrs398122523
googlers398122523
pharmgkbrs398122523
gwascentralrs398122523
openSNPrs398122523
23andMers398122523
23andMe allrs398122523
SNP Nexus

SNPshotrs398122523
SNPdbers398122523
MSV3drs398122523
GWAS Ctlgrs398122523
Max Magnitude0
ClinVar
Risk rs398122523(A;A)
Alt rs398122523(A;A)
Reference rs398122523(G;G)
Significance Pathogenic
Disease Heterotopia
Variation info
Gene ARFGEF2
CLNDBN Heterotopia, periventricular, autosomal recessive
Reversed 0
HGVS NC_000020.10:g.47592737G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074502.3,