Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs580809
rs580809 		9 98756160 intron variant C/T snv 0.78
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs1564228101
rs1564228101 		1.000 9 98790247 frameshift variant -/TCCAAGCCGCCCAGTGAGTGCGGCC delins
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 0
dbSNP: rs369437168
rs369437168 		1.000 9 98778412 stop gained G/A snv 8.0E-06 2.3E-04
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 0
dbSNP: rs397514257
rs397514257 		1.000 9 98768253 splice region variant G/C snv 2.8E-05 2.8E-05
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 0
dbSNP: rs397514258
rs397514258 		1.000 9 98736625 splice acceptor variant T/G snv
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 0
dbSNP: rs587777024
rs587777024 		1.000 9 98768159 frameshift variant CTTGACCGATG/- delins
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 0
dbSNP: rs587777025
rs587777025 		1.000 9 98751051 stop gained GAT/- delins 3.5E-05
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 0
dbSNP: rs756090222
rs756090222 		1.000 9 98790239 stop gained G/A;C snv 4.0E-06
CUI: C3809320
Disease: NEPHRONOPHTHISIS 16
NEPHRONOPHTHISIS 16 		0.700 0