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: rs1015798796
rs1015798796
SLC2A10
0.882 0.160 20 46725684 stop gained C/G snv 1.4E-05
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		0.700 1.000 2 2008 2009
dbSNP: rs1015798796
rs1015798796
SLC2A10
0.882 0.160 20 46725684 stop gained C/G snv 1.4E-05
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs1015798796
rs1015798796
SLC2A10
0.882 0.160 20 46725684 stop gained C/G snv 1.4E-05
CUI: C0002940
Disease: Aneurysm
Aneurysm 		0.700 0