rs1057518719

Orientation

minus

Stabilized

minus

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

Make rs1057518719(-;-)

Make rs1057518719(-;TCGT)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

48905289

Gene

SLC35A2

is a	snp
is	mentioned by
dbSNP	rs1057518719
dbSNP (classic)	rs1057518719
ClinGen	rs1057518719
ebi	rs1057518719
HLI	rs1057518719
Exac	rs1057518719
Gnomad	rs1057518719
Varsome	rs1057518719
LitVar	rs1057518719
Map	rs1057518719
PheGenI	rs1057518719
Biobank	rs1057518719
1000 genomes	rs1057518719
hgdp	rs1057518719
ensembl	rs1057518719
geneview	rs1057518719
scholar	rs1057518719
google	rs1057518719
pharmgkb	rs1057518719
gwascentral	rs1057518719
openSNP	rs1057518719
23andMe	rs1057518719
SNPshot	rs1057518719
SNPdbe	rs1057518719
MSV3d	rs1057518719
GWAS Ctlg	rs1057518719

Max Magnitude

0

ClinVar
Risk	rs1057518719(-;-)
Alt	rs1057518719(-;-)
Reference	Rs1057518719(TCGT;TCGT)
Significance	Pathogenic
Disease	CONGENITAL DISORDER OF GLYCOSYLATION
Variation	info
Gene	SLC35A2
CLNDBN	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
Reversed	1
HGVS	NC_000023.10:g.48762566_48762569delACGA
CLNSRC
CLNACC	RCV000415221.1,