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: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 1.000 2 2014 2017
dbSNP: rs1057518761
rs1057518761
PAX2
10 100750693 splice region variant TACTACGAGACCGG/- delins
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs1057518856
rs1057518856
PKD1
0.882 0.240 16 2102397 missense variant A/T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs1057518952
rs1057518952
PKHD1
1.000 0.080 6 52024728 frameshift variant -/C delins
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs1555202697
rs1555202697
BBS10
0.882 0.160 12 76347446 missense variant C/T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs1555932766
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0
dbSNP: rs786204707
rs786204707
PKHD1
0.925 0.200 6 52043636 stop gained C/T snv
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.700 0