rs74374973

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs74374973(C;T)

Make rs74374973(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46189973

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs74374973
dbSNP (classic)	rs74374973
ClinGen	rs74374973
ebi	rs74374973
HLI	rs74374973
Exac	rs74374973
Gnomad	rs74374973
Varsome	rs74374973
LitVar	rs74374973
Map	rs74374973
PheGenI	rs74374973
Biobank	rs74374973
1000 genomes	rs74374973
hgdp	rs74374973
ensembl	rs74374973
geneview	rs74374973
scholar	rs74374973
google	rs74374973
pharmgkb	rs74374973
gwascentral	rs74374973
openSNP	rs74374973
23andMe	rs74374973
SNPshot	rs74374973
SNPdbe	rs74374973
MSV3d	rs74374973
GWAS Ctlg	rs74374973

GMAF

0.007346

Max Magnitude

0

OMIM	606822
Desc
Variant	0013
Related	also

ClinVar
Risk	rs74374973(T;T)
Alt	rs74374973(T;T)
Reference	Rs74374973(C;C)
Significance	Other
Disease	Limb-girdle muscular dystrophy-dystroglycanopathy not specified
Variation	info
Gene	POMGNT1
CLNDBN	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 not specified
Reversed	0
HGVS	NC_000001.10:g.46655645C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004204.3, RCV000081801.10,