rs387906591

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	7	Fibrodysplasia ossificans progressiva

Make rs387906591(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

157774126

Gene

ACVR1

is a	snp
is	mentioned by
dbSNP	rs387906591
dbSNP (classic)	rs387906591
ClinGen	rs387906591
ebi	rs387906591
HLI	rs387906591
Exac	rs387906591
Gnomad	rs387906591
Varsome	rs387906591
LitVar	rs387906591
Map	rs387906591
PheGenI	rs387906591
Biobank	rs387906591
1000 genomes	rs387906591
hgdp	rs387906591
ensembl	rs387906591
geneview	rs387906591
scholar	rs387906591
google	rs387906591
pharmgkb	rs387906591
gwascentral	rs387906591
openSNP	rs387906591
23andMe	rs387906591
SNPshot	rs387906591
SNPdbe	rs387906591
MSV3d	rs387906591
GWAS Ctlg	rs387906591

Max Magnitude

7

ClinVar
Risk	rs387906591(T;T)
Alt	rs387906591(T;T)
Reference	Rs387906591(G;G)
Significance	Pathogenic
Disease	Progressive myositis ossificans
Variation	info
Gene	ACVR1
CLNDBN	Progressive myositis ossificans
Reversed	1
HGVS	NC_000002.11:g.158630638C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022434.28,