rs121434437

Orientation

plus

Stabilized

plus

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

Make rs121434437(A;A)

Make rs121434437(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38477353

Gene

ACVR2B

is a	snp
is	mentioned by
dbSNP	rs121434437
dbSNP (classic)	rs121434437
ClinGen	rs121434437
ebi	rs121434437
HLI	rs121434437
Exac	rs121434437
Gnomad	rs121434437
Varsome	rs121434437
LitVar	rs121434437
Map	rs121434437
PheGenI	rs121434437
Biobank	rs121434437
1000 genomes	rs121434437
hgdp	rs121434437
ensembl	rs121434437
geneview	rs121434437
scholar	rs121434437
google	rs121434437
pharmgkb	rs121434437
gwascentral	rs121434437
openSNP	rs121434437
23andMe	rs121434437
SNPshot	rs121434437
SNPdbe	rs121434437
MSV3d	rs121434437
GWAS Ctlg	rs121434437

GMAF

0.002755

Max Magnitude

0

OMIM	602730
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434437(A;A)
Alt	rs121434437(A;A)
Reference	Rs121434437(G;G)
Significance	Pathogenic
Disease	Heterotaxy not specified Heterotaxy syndrome
Variation	info
Gene	ACVR2B
CLNDBN	Heterotaxy, visceral, 4, autosomal not specified Heterotaxy syndrome
Reversed	0
HGVS	NC_000003.11:g.38518844G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007261.2, RCV000243624.1, RCV000351904.1,