Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150736997
rs150736997
RXYLT1 ; RXYLT1-AS1
0.800 GeneticVariation UNIPROT The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. 27130732

2016
dbSNP: rs150736997
rs150736997
RXYLT1 ; RXYLT1-AS1
0.800 GeneticVariation UNIPROT TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement. 27212206

2016
dbSNP: rs150736997
rs150736997
RXYLT1 ; RXYLT1-AS1
0.800 GeneticVariation UNIPROT The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. 27733679

2016
dbSNP: rs150736997
rs150736997
RXYLT1 ; RXYLT1-AS1
0.800 GeneticVariation UNIPROT Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211

2013
dbSNP: rs150736997
rs150736997
RXYLT1 ; RXYLT1-AS1
0.800 GeneticVariation UNIPROT Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329

2012
dbSNP: rs150736997
rs150736997
RXYLT1 ; RXYLT1-AS1
G 0.800 CausalMutation CLINVAR

dbSNP: rs397514544
rs397514544
RXYLT1 ; RXYLT1-AS1
0.700 GeneticVariation UNIPROT TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement. 27212206

2016
dbSNP: rs397514544
rs397514544
RXYLT1 ; RXYLT1-AS1
0.700 GeneticVariation UNIPROT The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. 27733679

2016
dbSNP: rs397514544
rs397514544
RXYLT1 ; RXYLT1-AS1
0.700 GeneticVariation UNIPROT The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. 27130732

2016
dbSNP: rs1565898123
rs1565898123
RXYLT1
A 0.700 GeneticVariation CLINVAR Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211

2013
dbSNP: rs397514544
rs397514544
RXYLT1 ; RXYLT1-AS1
0.700 GeneticVariation UNIPROT Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211

2013
dbSNP: rs778174763
rs778174763
RXYLT1
A 0.700 GeneticVariation CLINVAR Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 23519211

2013
dbSNP: rs1565898123
rs1565898123
RXYLT1
A 0.700 GeneticVariation CLINVAR Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329

2012
dbSNP: rs397514544
rs397514544
RXYLT1 ; RXYLT1-AS1
0.700 GeneticVariation UNIPROT Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329

2012
dbSNP: rs778174763
rs778174763
RXYLT1
A 0.700 GeneticVariation CLINVAR Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 23217329

2012
dbSNP: rs1555228198
rs1555228198
RXYLT1 ; RXYLT1-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1565899712
rs1565899712
RXYLT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397514543
rs397514543
RXYLT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514545
rs397514545
RXYLT1 ; RXYLT1-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs397514546
rs397514546
RXYLT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs397514695
rs397514695
RXYLT1 ; RXYLT1-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514696
rs397514696
RXYLT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs748590408
rs748590408
RXYLT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs948674144
rs948674144
RXYLT1
C 0.700 CausalMutation CLINVAR