rs863224849

Orientation

minus

Stabilized

minus

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

Make rs863224849(-;GAACTGACGGAACTGTGG)

Make rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

235450253

Gene

B3GALNT2

is a	snp
is	mentioned by
dbSNP	rs863224849
dbSNP (classic)	rs863224849
ClinGen	rs863224849
ebi	rs863224849
HLI	rs863224849
Exac	rs863224849
Gnomad	rs863224849
Varsome	rs863224849
LitVar	rs863224849
Map	rs863224849
PheGenI	rs863224849
Biobank	rs863224849
1000 genomes	rs863224849
hgdp	rs863224849
ensembl	rs863224849
geneview	rs863224849
scholar	rs863224849
google	rs863224849
pharmgkb	rs863224849
gwascentral	rs863224849
openSNP	rs863224849
23andMe	rs863224849
SNPshot	rs863224849
SNPdbe	rs863224849
MSV3d	rs863224849
GWAS Ctlg	rs863224849

Max Magnitude

0

ClinVar
Risk	rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)
Alt	rs863224849(GAACTGACGGAACTGTGG;GAACTGACGGAACTGTGG)
Reference	Rs863224849(-;-)
Significance	Probable-Pathogenic
Disease	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation	info
Gene	B3GALNT2
CLNDBN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Reversed	1
HGVS	NC_000001.10:g.235613569_235613586dup18
CLNSRC
CLNACC	RCV000195857.1,