Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555395001
rs1555395001
FBN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1557036768
rs1557036768
HUWE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1566911709
rs1566911709
FBN1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1566913974
rs1566913974
FBN1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045954
rs797045954
SF3B4
G 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
T 0.700 CausalMutation CLINVAR