rs193919335

Orientation

minus

Stabilized

minus

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

Make rs193919335(A;A)

Make rs193919335(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

46190473

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs193919335
dbSNP (classic)	rs193919335
ClinGen	rs193919335
ebi	rs193919335
HLI	rs193919335
Exac	rs193919335
Gnomad	rs193919335
Varsome	rs193919335
LitVar	rs193919335
Map	rs193919335
PheGenI	rs193919335
Biobank	rs193919335
1000 genomes	rs193919335
hgdp	rs193919335
ensembl	rs193919335
geneview	rs193919335
scholar	rs193919335
google	rs193919335
pharmgkb	rs193919335
gwascentral	rs193919335
openSNP	rs193919335
23andMe	rs193919335
SNPshot	rs193919335
SNPdbe	rs193919335
MSV3d	rs193919335
GWAS Ctlg	rs193919335

Max Magnitude

0

ClinVar
Risk	rs193919335(A;A) rs193919335(T;T)
Alt	rs193919335(A;A) rs193919335(T;T)
Reference	Rs193919335(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46656145C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004195.4, RCV000169201.1,