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: rs137852704
rs137852704
SCNN1B
6 0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1293789661
rs1293789661
CLCN2
7 0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs138977195
rs138977195
SLC12A3
5 1.000 0.120 16 56887967 missense variant G/A snv 3.7E-04 4.1E-04 0.700 0
dbSNP: rs1553856214
rs1553856214
CLCN2
5 0.882 0.040 3 184356994 stop gained T/A snv 0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs200817545
rs200817545
SLC12A3
6 0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04 0.700 0
dbSNP: rs758379595
rs758379595
CLCN2
5 0.882 0.040 3 184359130 missense variant A/G;T snv 4.0E-06 0.700 0