Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs138504221
rs138504221
SGSH
G 0.700 CausalMutation CLINVAR

dbSNP: rs150726175
rs150726175
NMNAT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555640521
rs1555640521
LAMA1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1559931177
rs1559931177
QRICH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs200661329
rs200661329
PIGQ
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28936375
rs28936375
CPT2
A 0.700 CausalMutation CLINVAR

dbSNP: rs34757931
rs34757931
VPS11
G 0.700 CausalMutation CLINVAR

dbSNP: rs752914124
rs752914124
SGSH
C 0.700 CausalMutation CLINVAR

dbSNP: rs761665644
rs761665644
TYMP ; SCO2
G 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR