rs869312030

Orientation

minus

Stabilized

minus

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

Make rs869312030(-;G)

Make rs869312030(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

18

Position

59359155

Gene

LMAN1

is a	snp
is	mentioned by
dbSNP	rs869312030
dbSNP (classic)	rs869312030
ClinGen	rs869312030
ebi	rs869312030
HLI	rs869312030
Exac	rs869312030
Gnomad	rs869312030
Varsome	rs869312030
LitVar	rs869312030
Map	rs869312030
PheGenI	rs869312030
Biobank	rs869312030
1000 genomes	rs869312030
hgdp	rs869312030
ensembl	rs869312030
geneview	rs869312030
scholar	rs869312030
google	rs869312030
pharmgkb	rs869312030
gwascentral	rs869312030
openSNP	rs869312030
23andMe	rs869312030
SNPshot	rs869312030
SNPdbe	rs869312030
MSV3d	rs869312030
GWAS Ctlg	rs869312030

Max Magnitude

0

ClinVar
Risk	rs869312030(G;G)
Alt	rs869312030(G;G)
Reference	Rs869312030(-;-)
Significance	Pathogenic
Disease	Combined deficiency of factor V and factor VIII
Variation	info
Gene	LMAN1
CLNDBN	Combined deficiency of factor V and factor VIII, 1
Reversed	1
HGVS	NC_000018.9:g.57026388dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008528.2,