Gene: PAPSS2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908951
rs121908951
PAPSS2
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908952
rs121908952
PAPSS2
T 0.710 CausalMutation CLINVAR Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428

2009
dbSNP: rs797045099
rs797045099
PAPSS2
T 0.700 GeneticVariation CLINVAR Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. 23633440

2013
dbSNP: rs797045099
rs797045099
PAPSS2
T 0.700 GeneticVariation CLINVAR Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. 23824674

2013
dbSNP: rs797045099
rs797045099
PAPSS2
T 0.700 GeneticVariation CLINVAR PAPSS2 mutations cause autosomal recessive brachyolmia. 22791835

2012
dbSNP: rs797045099
rs797045099
PAPSS2
T 0.700 GeneticVariation CLINVAR Inactivating PAPSS2 mutations in a patient with premature pubarche. 19474428

2009
dbSNP: rs797045099
rs797045099
PAPSS2
T 0.700 GeneticVariation CLINVAR Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. 9771708

1998
dbSNP: rs121908950
rs121908950
PAPSS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1471554906
rs1471554906
PAPSS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs606231241
rs606231241
PAPSS2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs606231242
rs606231242
PAPSS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs606231243
rs606231243
PAPSS2
GACGT 0.700 CausalMutation CLINVAR

dbSNP: rs786200933
rs786200933
PAPSS2
T 0.700 CausalMutation CLINVAR

dbSNP: rs786200934
rs786200934
PAPSS2
T 0.700 CausalMutation CLINVAR