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: rs756235299
rs756235299
ETHE1
1 1.000 0.200 19 43511448 missense variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs769259233
rs769259233
ETHE1 ; ZNF575
1 1.000 0.200 19 43526196 splice region variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1339093491
rs1339093491
ETHE1
2 0.925 0.200 19 43508031 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs489441
rs489441
C5orf66
2 0.925 0.280 5 135158291 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs7482144
rs7482144
HBG2
4 0.882 0.280 11 5254939 3 prime UTR variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs760149442
rs760149442
MUC1
2 0.925 0.200 1 155187245 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015