rs199922550

Orientation

plus

Stabilized

plus

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

Make rs199922550(C;T)

Make rs199922550(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

49721847

Gene	GMPPB, RNF123

is a	snp
is	mentioned by
dbSNP	rs199922550
dbSNP (classic)	rs199922550
ClinGen	rs199922550
ebi	rs199922550
HLI	rs199922550
Exac	rs199922550
Gnomad	rs199922550
Varsome	rs199922550
LitVar	rs199922550
Map	rs199922550
PheGenI	rs199922550
Biobank	rs199922550
1000 genomes	rs199922550
hgdp	rs199922550
ensembl	rs199922550
geneview	rs199922550
scholar	rs199922550
google	rs199922550
pharmgkb	rs199922550
gwascentral	rs199922550
openSNP	rs199922550
23andMe	rs199922550
SNPshot	rs199922550
SNPdbe	rs199922550
MSV3d	rs199922550
GWAS Ctlg	rs199922550

Max Magnitude

0

ClinVar
Risk	rs199922550(T;T)
Alt	rs199922550(T;T)
Reference	Rs199922550(C;C)
Significance	Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (limb-girdle) not provided
Variation	info
Gene	RNF123 GMPPB
CLNDBN	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 not provided
Reversed	0
HGVS	NC_000003.11:g.49759280C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054441.3, RCV000440664.1,