Source: ALL
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: rs751527253
rs751527253
NPHP3 ; NPHP3-ACAD11
6 0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 0.700 1.000 3 2008 2016
dbSNP: rs528302390
rs528302390
PKD1L1
9 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs770861172
rs770861172
DNAH7
6 0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
6 0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs150508940
rs150508940
PIFO
1 1.000 0.040 1 111347753 missense variant G/A snv 3.0E-04 1.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs773920636
rs773920636
PIFO
1 1.000 0.040 1 111347744 stop gained -/AGCTGTGA delins 4.0E-06; 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010