rs121434438

Orientation

plus

Stabilized

plus

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

Make rs121434438(A;A)

Make rs121434438(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38483273

Gene

ACVR2B

is a	snp
is	mentioned by
dbSNP	rs121434438
dbSNP (classic)	rs121434438
ClinGen	rs121434438
ebi	rs121434438
HLI	rs121434438
Exac	rs121434438
Gnomad	rs121434438
Varsome	rs121434438
LitVar	rs121434438
Map	rs121434438
PheGenI	rs121434438
Biobank	rs121434438
1000 genomes	rs121434438
hgdp	rs121434438
ensembl	rs121434438
geneview	rs121434438
scholar	rs121434438
google	rs121434438
pharmgkb	rs121434438
gwascentral	rs121434438
openSNP	rs121434438
23andMe	rs121434438
SNPshot	rs121434438
SNPdbe	rs121434438
MSV3d	rs121434438
GWAS Ctlg	rs121434438

Max Magnitude

0

OMIM	602730
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434438(A;A)
Alt	rs121434438(A;A)
Reference	Rs121434438(G;G)
Significance	Pathogenic
Disease	Heterotaxy
Variation	info
Gene	ACVR2B
CLNDBN	Heterotaxy, visceral, 4, autosomal
Reversed	0
HGVS	NC_000003.11:g.38524764G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007262.2,