rs121912679

Orientation

minus

Stabilized

minus

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

Make rs121912679(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

157761077

Gene

ACVR1

is a	snp
is	mentioned by
dbSNP	rs121912679
dbSNP (classic)	rs121912679
ClinGen	rs121912679
ebi	rs121912679
HLI	rs121912679
Exac	rs121912679
Gnomad	rs121912679
Varsome	rs121912679
LitVar	rs121912679
Map	rs121912679
PheGenI	rs121912679
Biobank	rs121912679
1000 genomes	rs121912679
hgdp	rs121912679
ensembl	rs121912679
geneview	rs121912679
scholar	rs121912679
google	rs121912679
pharmgkb	rs121912679
gwascentral	rs121912679
openSNP	rs121912679
23andMe	rs121912679
SNPshot	rs121912679
SNPdbe	rs121912679
MSV3d	rs121912679
GWAS Ctlg	rs121912679

Max Magnitude

7

OMIM	102576
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912679(A;A)
Alt	rs121912679(A;A)
Reference	Rs121912679(G;G)
Significance	Pathogenic
Disease	Progressive myositis ossificans
Variation	info
Gene	ACVR1
CLNDBN	Progressive myositis ossificans
Reversed	1
HGVS	NC_000002.11:g.158617589C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019972.28,