rs28937880

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs28937880(A;A)

Make rs28937880(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

48953577

Gene

ARFGEF2

is a	snp
is	mentioned by
dbSNP	rs28937880
dbSNP (classic)	rs28937880
ClinGen	rs28937880
ebi	rs28937880
HLI	rs28937880
Exac	rs28937880
Gnomad	rs28937880
Varsome	rs28937880
LitVar	rs28937880
Map	rs28937880
PheGenI	rs28937880
Biobank	rs28937880
1000 genomes	rs28937880
hgdp	rs28937880
ensembl	rs28937880
geneview	rs28937880
scholar	rs28937880
google	rs28937880
pharmgkb	rs28937880
gwascentral	rs28937880
openSNP	rs28937880
23andMe	rs28937880
SNPshot	rs28937880
SNPdbe	rs28937880
MSV3d	rs28937880
GWAS Ctlg	rs28937880

GMAF

0.004132

Max Magnitude

0

OMIM	605371
Desc	PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
Variant	0001
Related	also

ClinVar
Risk	rs28937880(A;A)
Alt	rs28937880(A;A)
Reference	Rs28937880(G;G)
Significance	Pathogenic
Disease	Heterotopia not specified
Variation	info
Gene	ARFGEF2
CLNDBN	Heterotopia, periventricular, autosomal recessive not specified
Reversed	0
HGVS	NC_000020.10:g.47570114G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005353.3, RCV000425899.1,