rs137853599

Orientation

minus

Stabilized

minus

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

Make rs137853599(A;A)

Make rs137853599(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

120626713

Gene

C1GALT1C1

is a	snp
is	mentioned by
dbSNP	rs137853599
dbSNP (classic)	rs137853599
ClinGen	rs137853599
ebi	rs137853599
HLI	rs137853599
Exac	rs137853599
Gnomad	rs137853599
Varsome	rs137853599
LitVar	rs137853599
Map	rs137853599
PheGenI	rs137853599
Biobank	rs137853599
1000 genomes	rs137853599
hgdp	rs137853599
ensembl	rs137853599
geneview	rs137853599
scholar	rs137853599
google	rs137853599
pharmgkb	rs137853599
gwascentral	rs137853599
openSNP	rs137853599
23andMe	rs137853599
SNPshot	rs137853599
SNPdbe	rs137853599
MSV3d	rs137853599
GWAS Ctlg	rs137853599

Max Magnitude

0

OMIM	300611
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137853599(A;A)
Alt	rs137853599(A;A)
Reference	Rs137853599(G;G)
Significance	Pathogenic
Disease	Polyagglutinable erythrocyte syndrome
Variation	info
Gene	C1GALT1C1
CLNDBN	Polyagglutinable erythrocyte syndrome
Reversed	1
HGVS	NC_000023.10:g.119760568C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011540.4,