rs17261572

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	1.5	Tn polyagglutination syndrome; somatic mutation
(T;T)	2	Tn polyagglutination syndrome; somatic mutation

Reference

GRCh38 38.1/141

Chromosome

X

Position

120626774

Gene

C1GALT1C1

is a	snp
is	mentioned by
dbSNP	rs17261572
dbSNP (classic)	rs17261572
ClinGen	rs17261572
ebi	rs17261572
HLI	rs17261572
Exac	rs17261572
Gnomad	rs17261572
Varsome	rs17261572
LitVar	rs17261572
Map	rs17261572
PheGenI	rs17261572
Biobank	rs17261572
1000 genomes	rs17261572
hgdp	rs17261572
ensembl	rs17261572
geneview	rs17261572
scholar	rs17261572
google	rs17261572
pharmgkb	rs17261572
gwascentral	rs17261572
openSNP	rs17261572
23andMe	rs17261572
SNPshot	rs17261572
SNPdbe	rs17261572
MSV3d	rs17261572
GWAS Ctlg	rs17261572

GMAF

0.1312

Max Magnitude

2

?	(A;A) (A;T) (T;T)	28

OMIM	300611
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs17261572(T;T)
Alt	Rs17261572(T;T)
Reference	Rs17261572(A;A)
Significance	Pathogenic
Disease	Polyagglutinable erythrocyte syndrome
Variation	info
Gene	C1GALT1C1
CLNDBN	Polyagglutinable erythrocyte syndrome
Reversed	0
HGVS	NC_000023.10:g.119760629A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011539.4,

[PMID 18840896] No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.