Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200287952
rs200287952
COL4A3 ; MFF-DT
2 1.000 2 227277511 missense variant G/A snv 1.1E-04 1.5E-04 0.700 1.000 1 2019 2019
dbSNP: rs56254331
rs56254331
TGFB1 ; CCDC97
1 19 41320115 intron variant A/C;G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs760545501
rs760545501 		1 2 224359374 regulatory region variant C/T snv 1.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs1441937959
rs1441937959
EFL1
19 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1556411578
rs1556411578
COL4A5
4 X 108595507 coding sequence variant AAGGTGACA/- delins 0.700 0
dbSNP: rs1556463583
rs1556463583
COL4A5
2 X 108695350 frameshift variant -/A delins 0.700 0
dbSNP: rs1559643753
rs1559643753
COL4A4
2 1.000 0.120 2 227108597 missense variant C/T snv 0.700 0
dbSNP: rs1569497030
rs1569497030
COL4A5
2 1.000 X 108615026 splice donor variant T/G snv 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
49 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs533297350
rs533297350
COL4A4
5 1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs569681869
rs569681869
COL4A4
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs779593707
rs779593707
CLCNKB
2 1 16049884 stop gained -/AATA delins 1.2E-05 7.0E-06 0.700 0