Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750687
rs63750687
PSEN1
T 0.700 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014
dbSNP: rs1114167453
rs1114167453
PPP1R13L
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692034
rs1131692034
EDA
A 0.700 CausalMutation CLINVAR

dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554317931
rs1554317931
GLI3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1556425596
rs1556425596
COL6A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934906
rs28934906
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
C 0.700 CausalMutation CLINVAR

dbSNP: rs61764370
rs61764370
KRAS
0.010 GeneticVariation BEFREE A significant association with dry skin and global cetuximab-related toxicity was observed for the KRAS-LCS6 (rs61764370) variant (p<0.05); carriers of the G allele (genotypes TG+GG) in the dominant model were observed to have a decreased susceptibility of developing dry skin (OR=0.287 [95%CI=0.119-0.695]). 27938998

2016