Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854539
rs137854539
GNAS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555038111
rs1555038111
KMT2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs727503109
rs727503109
KRAS
C 0.700 CausalMutation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs727504662
rs727504662
KRAS
0.010 GeneticVariation BEFREE We report on a second vertical transmission (a mother and two siblings) with a novel mutation (p.M72L), in which the proband has trigonocephaly and the affected mother and sister, prominent ectodermal involvement. 22488932

2012