rs3810141

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	2	Carrier of a Lutheran null blood group variant
(T;T)	3	Lutheran null blood; Lu(a-b-) phenotype

Reference

GRCh38 38.1/142

Chromosome

19

Position

44813547

Gene

BCAM

is a	snp
is	mentioned by
dbSNP	rs3810141
dbSNP (classic)	rs3810141
ClinGen	rs3810141
ebi	rs3810141
HLI	rs3810141
Exac	rs3810141
Gnomad	rs3810141
Varsome	rs3810141
LitVar	rs3810141
Map	rs3810141
PheGenI	rs3810141
Biobank	rs3810141
1000 genomes	rs3810141
hgdp	rs3810141
ensembl	rs3810141
geneview	rs3810141
scholar	rs3810141
google	rs3810141
pharmgkb	rs3810141
gwascentral	rs3810141
openSNP	rs3810141
23andMe	rs3810141
SNPshot	rs3810141
SNPdbe	rs3810141
MSV3d	rs3810141
GWAS Ctlg	rs3810141

GMAF

0.05785

Max Magnitude

3

aka c.711C>A (p.Cys237Ter); note a benign, synonymous variant, c.711C>T, is also known

Lutheran Null blood group mutation

23andMe name for c.711C>A variant: i5000663

OMIM	612773
Desc
Variant	0005
Related	also

ClinVar
Risk	rs3810141(A;A) Rs3810141(T;T)
Alt	rs3810141(A;A) Rs3810141(T;T)
Reference	Rs3810141(G;G)
Significance	Pathogenic
Disease	BLOOD GROUP--LUTHERAN NULL
Variation	info
Gene	BCAM
CLNDBN	BLOOD GROUP--LUTHERAN NULL
Reversed	1
HGVS	NC_000019.9:g.45316804C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000471.2,