rs137853890

Orientation

minus

Stabilized

minus

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

Make rs137853890(A;A)

Make rs137853890(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

42747254

Gene	LEPRE1, P3H1

is a	snp
is	mentioned by
dbSNP	rs137853890
dbSNP (classic)	rs137853890
ClinGen	rs137853890
ebi	rs137853890
HLI	rs137853890
Exac	rs137853890
Gnomad	rs137853890
Varsome	rs137853890
LitVar	rs137853890
Map	rs137853890
PheGenI	rs137853890
Biobank	rs137853890
1000 genomes	rs137853890
hgdp	rs137853890
ensembl	rs137853890
geneview	rs137853890
scholar	rs137853890
google	rs137853890
pharmgkb	rs137853890
gwascentral	rs137853890
openSNP	rs137853890
23andMe	rs137853890
SNPshot	rs137853890
SNPdbe	rs137853890
MSV3d	rs137853890
GWAS Ctlg	rs137853890

Max Magnitude

0

ClinVar
Risk	rs137853890(A;A)
Alt	rs137853890(A;A)
Reference	Rs137853890(G;G)
Significance	Pathogenic
Disease	Osteogenesis imperfecta type 8
Variation	info
Gene	LEPRE1 P3H1
CLNDBN	Osteogenesis imperfecta type 8
Reversed	1
HGVS	NC_000001.10:g.43212925C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001321.3,