rs137853598

Orientation

minus

Stabilized

minus

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

Make rs137853598(C;T)

Make rs137853598(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

120626965

Gene

C1GALT1C1

is a	snp
is	mentioned by
dbSNP	rs137853598
dbSNP (classic)	rs137853598
ClinGen	rs137853598
ebi	rs137853598
HLI	rs137853598
Exac	rs137853598
Gnomad	rs137853598
Varsome	rs137853598
LitVar	rs137853598
Map	rs137853598
PheGenI	rs137853598
Biobank	rs137853598
1000 genomes	rs137853598
hgdp	rs137853598
ensembl	rs137853598
geneview	rs137853598
scholar	rs137853598
google	rs137853598
pharmgkb	rs137853598
gwascentral	rs137853598
openSNP	rs137853598
23andMe	rs137853598
SNPshot	rs137853598
SNPdbe	rs137853598
MSV3d	rs137853598
GWAS Ctlg	rs137853598

Max Magnitude

0

OMIM	300611
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137853598(T;T)
Alt	rs137853598(T;T)
Reference	Rs137853598(C;C)
Significance	Pathogenic
Disease	Polyagglutinable erythrocyte syndrome
Variation	info
Gene	C1GALT1C1
CLNDBN	Polyagglutinable erythrocyte syndrome
Reversed	1
HGVS	NC_000023.10:g.119760820G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011538.4,