rs387906589

Orientation

minus

Stabilized

minus

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

Make rs387906589(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

157766004

Gene

ACVR1

is a	snp
is	mentioned by
dbSNP	rs387906589
dbSNP (classic)	rs387906589
ClinGen	rs387906589
ebi	rs387906589
HLI	rs387906589
Exac	rs387906589
Gnomad	rs387906589
Varsome	rs387906589
LitVar	rs387906589
Map	rs387906589
PheGenI	rs387906589
Biobank	rs387906589
1000 genomes	rs387906589
hgdp	rs387906589
ensembl	rs387906589
geneview	rs387906589
scholar	rs387906589
google	rs387906589
pharmgkb	rs387906589
gwascentral	rs387906589
openSNP	rs387906589
23andMe	rs387906589
SNPshot	rs387906589
SNPdbe	rs387906589
MSV3d	rs387906589
GWAS Ctlg	rs387906589

Max Magnitude

7

ClinVar
Risk	rs387906589(A;A) rs387906589(T;T)
Alt	rs387906589(A;A) rs387906589(T;T)
Reference	Rs387906589(G;G)
Significance	Pathogenic
Disease	Brainstem glioma Progressive myositis ossificans
Variation	info
Gene	ACVR1
CLNDBN	Brainstem glioma Progressive myositis ossificans
Reversed	1
HGVS	NC_000002.11:g.158622516C>A; NC_000002.11:g.158622516C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000445088.1, RCV000022432.28, RCV000434306.1,