rs387906588

Orientation

minus

Stabilized

minus

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

Make rs387906588(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

157766005

Gene

ACVR1

is a	snp
is	mentioned by
dbSNP	rs387906588
dbSNP (classic)	rs387906588
ClinGen	rs387906588
ebi	rs387906588
HLI	rs387906588
Exac	rs387906588
Gnomad	rs387906588
Varsome	rs387906588
LitVar	rs387906588
Map	rs387906588
PheGenI	rs387906588
Biobank	rs387906588
1000 genomes	rs387906588
hgdp	rs387906588
ensembl	rs387906588
geneview	rs387906588
scholar	rs387906588
google	rs387906588
pharmgkb	rs387906588
gwascentral	rs387906588
openSNP	rs387906588
23andMe	rs387906588
SNPshot	rs387906588
SNPdbe	rs387906588
MSV3d	rs387906588
GWAS Ctlg	rs387906588

Max Magnitude

7

ClinVar
Risk	rs387906588(A;A) rs387906588(T;T)
Alt	rs387906588(A;A) rs387906588(T;T)
Reference	Rs387906588(G;G)
Significance	Pathogenic
Disease	Progressive myositis ossificans
Variation	info
Gene	ACVR1
CLNDBN	Progressive myositis ossificans
Reversed	1
HGVS	NC_000002.11:g.158622517C>A; NC_000002.11:g.158622517C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022431.28, RCV000022430.28,