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: rs28937888
rs28937888
SLURP1
1.000 0.080 8 142741199 missense variant C/G;T snv 4.5E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.820 1.000 2 2007 2011
dbSNP: rs121908318
rs121908318
SLURP1
1.000 0.080 8 142742343 missense variant A/G snv 8.0E-05 6.3E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.810 1.000 11 2001 2015
dbSNP: rs121908320
rs121908320
SLURP1
1.000 0.080 8 142741159 missense variant C/A;T snv
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.810 1.000 10 2001 2015
dbSNP: rs121908319
rs121908319
SLURP1
1.000 0.080 8 142741226 missense variant A/G snv 4.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.800 1.000 9 2001 2015
dbSNP: rs1448017161
rs1448017161
SLURP1
1.000 0.080 8 142741243 missense variant C/T snv 8.4E-06 7.0E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.700 1.000 9 2001 2015
dbSNP: rs772388665
rs772388665
SLURP1
1.000 0.080 8 142741175 missense variant A/T snv 8.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.700 1.000 9 2001 2015
dbSNP: rs587776601
rs587776601
SLURP1
1.000 0.080 8 142741899 frameshift variant A/- del 3.2E-05 6.3E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.700 1.000 7 2001 2018
dbSNP: rs1181208026
rs1181208026
SLURP1
1.000 0.080 8 142741211 missense variant G/A;T snv 4.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.700 0
dbSNP: rs121908317
rs121908317
SLURP1
1.000 0.080 8 142741169 stop gained G/A;C snv 1.2E-05; 4.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.700 0
dbSNP: rs28937889
rs28937889
SLURP1
1.000 0.080 8 142742385 start lost T/G snv
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.700 0
dbSNP: rs587776602
rs587776602
SLURP1
1.000 0.080 8 142741802 splice donor variant C/T snv
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.700 0
dbSNP: rs112121360
rs112121360
HLA-DOA
1.000 0.080 6 33008091 missense variant C/G;T snv 8.1E-06 7.0E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.010 1.000 1 2011 2011
dbSNP: rs145070893
rs145070893
PLAU ; C10orf55
1.000 0.080 10 73913679 missense variant C/G;T snv 4.4E-05; 2.4E-04
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.010 1.000 1 2011 2011
dbSNP: rs200751829
rs200751829
CD28
1.000 0.080 2 203734847 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.010 1.000 1 2011 2011
dbSNP: rs772718099
rs772718099
PLAUR
1.000 0.080 19 43656560 missense variant G/A;C snv 1.2E-05; 2.8E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		0.010 1.000 1 2007 2007