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: rs886037834
rs886037834
PKD1L1
6 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs138890576
rs138890576
DNAH5
4 0.882 0.160 5 13844931 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 1 2016 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: rs1485445500
rs1485445500
NPHP3 ; NPHP3-ACAD11
2 0.925 0.160 3 132708202 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
7 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
4 1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 0.700 0
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: rs777516785
rs777516785
USP11
5 0.882 0.120 X 47242504 synonymous variant G/A snv 1.1E-05 0.700 0