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: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 1.000 1 2014 2014
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 1.000 1 2015 2015
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs1555928716
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs74799832
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs913477149
rs913477149
RFT1
0.851 0.160 3 53105728 missense variant T/A;C snv
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0