Source: ALL

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: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 1.000 1 2016 2016
dbSNP: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs1553769428
rs1553769428
HJV
0.925 0.120 1 146018352 stop gained C/A snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs1555462347
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs879255280
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0