Source: UNIPROT

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: rs121909650
rs121909650
1.000 0.040 5 180616464 missense variant C/G snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs121909651
rs121909651
1.000 0.040 5 180616455 missense variant A/G snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs121909652
rs121909652
1.000 0.040 5 180613101 missense variant G/A snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs121909653
rs121909653
1.000 0.040 5 180616482 missense variant T/C snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs121909654
rs121909654
1.000 0.040 5 180619680 missense variant C/T snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs121909655
rs121909655
1.000 0.040 5 180614142 missense variant A/G snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs121909656
rs121909656
1.000 0.040 5 180614083 missense variant C/T snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs121909657
rs121909657
1.000 0.040 5 180619749 missense variant C/T snv 8.2E-06 8.4E-05
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs267606818
rs267606818
1.000 0.040 5 180619743 missense variant C/T snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
0.800 1.000 10 1998 2015
dbSNP: rs34255532
rs34255532
0.925 0.080 5 180618911 missense variant G/A;C snv 3.5E-03; 5.2E-06
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE
0.700 0
dbSNP: rs372947534
rs372947534
1.000 0.120 5 180626237 missense variant G/A snv 4.0E-05 6.3E-05
Conventional (Clear Cell) Renal Cell Carcinoma
0.700 0