Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913529
rs121913529
0.730 GeneticVariation BEFREE We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. 30443000

2019

dbSNP: rs121913529
rs121913529
0.730 GeneticVariation BEFREE KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant. 26521233

2015

dbSNP: rs121913529
rs121913529
0.730 GeneticVariation BEFREE Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. 22683711

2012

dbSNP: rs121913529
rs121913529
T 0.730 CausalMutation CLINVAR