rs121912680

Orientation

minus

Stabilized

minus

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

Make rs121912680(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

157770384

Gene

ACVR1

is a	snp
is	mentioned by
dbSNP	rs121912680
dbSNP (classic)	rs121912680
ClinGen	rs121912680
ebi	rs121912680
HLI	rs121912680
Exac	rs121912680
Gnomad	rs121912680
Varsome	rs121912680
LitVar	rs121912680
Map	rs121912680
PheGenI	rs121912680
Biobank	rs121912680
1000 genomes	rs121912680
hgdp	rs121912680
ensembl	rs121912680
geneview	rs121912680
scholar	rs121912680
google	rs121912680
pharmgkb	rs121912680
gwascentral	rs121912680
openSNP	rs121912680
23andMe	rs121912680
SNPshot	rs121912680
SNPdbe	rs121912680
MSV3d	rs121912680
GWAS Ctlg	rs121912680

Max Magnitude

7

OMIM	102576
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912680(A;A) rs121912680(C;C)
Alt	rs121912680(A;A) rs121912680(C;C)
Reference	Rs121912680(G;G)
Significance	Pathogenic
Disease	Progressive myositis ossificans
Variation	info
Gene	ACVR1
CLNDBN	Progressive myositis ossificans
Reversed	1
HGVS	NC_000002.11:g.158626896C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019973.28,