Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167453
rs1114167453
PPP1R13L
CUI: C0151908
Disease: Dry skin
Dry skin 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692034
rs1131692034
EDA
CUI: C0151908
Disease: Dry skin
Dry skin 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
CUI: C0151908
Disease: Dry skin
Dry skin 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0151908
Disease: Dry skin
Dry skin 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
CUI: C0151908
Disease: Dry skin
Dry skin 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554317931
rs1554317931
GLI3
CUI: C0151908
Disease: Dry skin
Dry skin 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1556425596
rs1556425596
COL6A1
CUI: C0151908
Disease: Dry skin
Dry skin 		T 0.700 CausalMutation CLINVAR

dbSNP: rs28934906
rs28934906
MECP2
CUI: C0151908
Disease: Dry skin
Dry skin 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
CUI: C0151908
Disease: Dry skin
Dry skin 		T 0.700 CausalMutation CLINVAR

dbSNP: rs63750687
rs63750687
PSEN1
CUI: C0151908
Disease: Dry skin
Dry skin 		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: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
CUI: C0151908
Disease: Dry skin
Dry skin 		C 0.700 CausalMutation CLINVAR