Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 1.000 1 2014 2014
dbSNP: rs1114167453
rs1114167453
PPP1R13L
1.000 19 45385569 stop gained G/C snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs1131692034
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs1554317931
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0151908
Disease: Dry skin
Dry skin 		0.700 0