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: rs10236314
rs10236314
ABCB5
7 20676586 intron variant A/C snv 0.90
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs73276602
rs73276602
ABCB5
7 20642227 intron variant A/C;G snv
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2013 2013
dbSNP: rs1187237313
rs1187237313
ABCB5
1.000 0.120 7 20727052 missense variant G/A snv 7.0E-06
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.700 0
dbSNP: rs10231520
rs10231520
ABCB5
1.000 0.040 7 20742471 intron variant C/T snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs17817117
rs17817117
ABCB5
1.000 0.040 7 20685203 intron variant G/C snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs2301641
rs2301641
ABCB5
1.000 0.040 7 20658647 missense variant A/G snv 0.33 0.40
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs781703310
rs781703310
ABCB5
1.000 0.160 7 20742967 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 1.000 1 2017 2017