rs318240762

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs318240762(C;C)

Make rs318240762(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

22165439

Gene

BMP1

is a	snp
is	mentioned by
dbSNP	rs318240762
dbSNP (classic)	rs318240762
ClinGen	rs318240762
ebi	rs318240762
HLI	rs318240762
Exac	rs318240762
Gnomad	rs318240762
Varsome	rs318240762
LitVar	rs318240762
Map	rs318240762
PheGenI	rs318240762
Biobank	rs318240762
1000 genomes	rs318240762
hgdp	rs318240762
ensembl	rs318240762
geneview	rs318240762
scholar	rs318240762
google	rs318240762
pharmgkb	rs318240762
gwascentral	rs318240762
openSNP	rs318240762
23andMe	rs318240762
SNPshot	rs318240762
SNPdbe	rs318240762
MSV3d	rs318240762
GWAS Ctlg	rs318240762

Max Magnitude

0

ClinVar
Risk	rs318240762(C;C)
Alt	rs318240762(C;C)
Reference	Rs318240762(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta not provided
Variation	info
Gene	BMP1
CLNDBN	Osteogenesis imperfecta, type xiii not provided
Reversed	0
HGVS	NC_000008.10:g.22022952G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000030847.25, RCV000059794.1,