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: rs1029888196
rs1029888196
BMX ; ACE2
1.000 0.080 X 15556127 missense variant C/T snv 5.7E-06 9.5E-06
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung 		0.700 0
dbSNP: rs1032513393
rs1032513393
SLC3A1
1.000 0.120 2 44313856 missense variant C/G snv 7.0E-06
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.700 0
dbSNP: rs1033550407
rs1033550407
PKD1
1.000 0.120 16 2111442 missense variant G/A snv 2.1E-05
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		0.700 0
dbSNP: rs1033602309
rs1033602309
SHROOM2
1.000 0.080 X 9937279 missense variant G/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1034429230
rs1034429230
PACC1
1.000 0.080 1 212365260 missense variant C/G snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1034941983
rs1034941983
ADAM7 ; LOC101929294 ; LOC101929315
1.000 0.080 8 24499308 missense variant G/A snv
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma 		0.700 0
dbSNP: rs1035448844
rs1035448844
SLITRK1
1.000 0.040 13 83879757 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		0.700 0
dbSNP: rs1039399607
rs1039399607
ALOX12B
1.000 0.080 17 8077017 missense variant G/T snv 1.4E-05
CUI: C3888093
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 		0.700 0
dbSNP: rs1039528164
rs1039528164
DCC
18 53467923 missense variant A/G snv
CUI: C1834870
Disease: MIRROR MOVEMENTS 1
MIRROR MOVEMENTS 1 		0.700 0
dbSNP: rs1040254222
rs1040254222
TRPM7
1.000 0.080 15 50611215 missense variant T/A;C snv 4.0E-06; 8.0E-06
CUI: C3165106
Disease: Infiltrating duct carcinoma of female breast
Infiltrating duct carcinoma of female breast 		0.700 0
dbSNP: rs1040441824
rs1040441824
PTS
0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		0.700 0
dbSNP: rs1040877016
rs1040877016
TTC21B
1.000 2 165883978 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C3151186
Disease: NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 12 		0.700 0
dbSNP: rs10414971
rs10414971
ZNF442
1.000 0.080 19 12351131 missense variant G/A snv 1.9E-03 7.8E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1041681662
rs1041681662
SUOX
1.000 0.080 12 56004192 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2931746
Disease: Sulfocysteinuria
Sulfocysteinuria 		0.700 0
dbSNP: rs1042640142
rs1042640142
DCDC2 ; KAAG1
1.000 6 24357700 missense variant C/G;T snv
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		0.800 0
dbSNP: rs1043397364
rs1043397364
DPEP1
1.000 0.080 16 89637349 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1044703733
rs1044703733
CTSC
1.000 0.080 11 88294383 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		0.700 0
dbSNP: rs1045574508
rs1045574508
GREB1L
1.000 18 21508528 missense variant C/A;T snv 1.3E-05; 1.3E-05
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3 		0.700 0
dbSNP: rs1047334552
rs1047334552
SLC9A3
1.000 0.120 5 491904 missense variant C/T snv
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.700 0
dbSNP: rs104893826
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 0
dbSNP: rs104894025
rs104894025
NT5C3A
1.000 0.080 7 33021317 missense variant T/A snv 1.2E-05 2.1E-05
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.800 0
dbSNP: rs104894028
rs104894028
NT5C3A
1.000 0.080 7 33017461 missense variant T/C snv 1.4E-05
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.800 0
dbSNP: rs104894029
rs104894029
NT5C3A
0.925 0.080 7 33015741 missense variant C/G snv
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.800 0
dbSNP: rs104894156
rs104894156
DMBT1
1.000 0.040 10 122582793 missense variant G/T snv
CUI: C0017638
Disease: Glioma
Glioma 		0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.700 0