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rs28937880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937880(A;A)
Make rs28937880(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position48953577
GeneARFGEF2
is asnp
is mentioned by
dbSNPrs28937880
ebirs28937880
HLIrs28937880
Exacrs28937880
Varsomers28937880
Maprs28937880
PheGenIrs28937880
hapmaprs28937880
1000 genomesrs28937880
hgdprs28937880
ensemblrs28937880
gopubmedrs28937880
geneviewrs28937880
scholarrs28937880
googlers28937880
pharmgkbrs28937880
gwascentralrs28937880
openSNPrs28937880
23andMers28937880
23andMe allrs28937880
SNP Nexus

SNPshotrs28937880
SNPdbers28937880
MSV3drs28937880
GWAS Ctlgrs28937880
GMAF0.004132
Max Magnitude0
OMIM605371
DescPERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
Variant0001
Relatedalso


ClinVar
Risk rs28937880(A;A)
Alt rs28937880(A;A)
Reference rs28937880(G;G)
Significance Pathogenic
Disease Heterotopia
Variation info
Gene ARFGEF2
CLNDBN Heterotopia, periventricular, autosomal recessive
Reversed 0
HGVS NC_000020.10:g.47570114G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005353.3,