Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777366
rs587777366
XYLT1
0.800 GeneticVariation UNIPROT Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. 28462984

2017
dbSNP: rs587777367
rs587777367
XYLT1 ; LOC102723692
0.800 GeneticVariation UNIPROT Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. 28462984

2017
dbSNP: rs587777366
rs587777366
XYLT1
0.800 GeneticVariation UNIPROT XYLT1 mutations in Desbuquois dysplasia type 2. 24581741

2014
dbSNP: rs587777366
rs587777366
XYLT1
0.800 GeneticVariation UNIPROT "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." 23982343

2014
dbSNP: rs587777367
rs587777367
XYLT1 ; LOC102723692
0.800 GeneticVariation UNIPROT "The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation." 23982343

2014
dbSNP: rs587777367
rs587777367
XYLT1 ; LOC102723692
0.800 GeneticVariation UNIPROT XYLT1 mutations in Desbuquois dysplasia type 2. 24581741

2014
dbSNP: rs587777366
rs587777366
XYLT1
A 0.800 CausalMutation CLINVAR

dbSNP: rs587777367
rs587777367
XYLT1 ; LOC102723692
A 0.800 CausalMutation CLINVAR

dbSNP: rs1085307563
rs1085307563
XYLT1 ; LOC102723692
GTCAT 0.700 CausalMutation CLINVAR

dbSNP: rs1567215600
rs1567215600
XYLT1 ; LOC107987234
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567215615
rs1567215615
XYLT1 ; LOC105371106 ; LOC107987234
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567300982
rs1567300982
XYLT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777368
rs587777368
XYLT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777369
rs587777369
XYLT1 ; LOC105371106 ; LOC107987234
GC 0.700 CausalMutation CLINVAR

dbSNP: rs587777370
rs587777370
XYLT1
G 0.700 CausalMutation CLINVAR