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: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1567053134
rs1567053134
CYP11A1
8 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
dbSNP: rs1049305
rs1049305
AQP1
4 0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2018 2018
dbSNP: rs151264360
rs151264360
TYMS ; ENOSF1
3 0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins 0.010 1.000 1 2018 2018
dbSNP: rs3741559
rs3741559
AQP2 ; LOC101927318
3 1.000 0.160 12 49951193 splice region variant G/A snv 0.20 0.17 0.010 1.000 1 2011 2011
dbSNP: rs3742030
rs3742030
TRPV4
4 0.925 0.080 12 109814742 missense variant G/A;C snv 3.7E-02 0.010 1.000 1 2009 2009
dbSNP: rs467323
rs467323
AQP2 ; LOC101927318
2 12 49955982 3 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs761389904
rs761389904
NDUFAF5
1 20 13816520 missense variant T/G snv 5.6E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs775067652
rs775067652
CA12
2 15 63345543 missense variant G/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs778022582
rs778022582
KLHL40
4 0.925 0.080 3 42688963 missense variant A/C;G snv 9.5E-05; 1.2E-05 0.010 1.000 1 2019 2019