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: rs6966038
rs6966038 		1 1.000 0.080 7 157087704 downstream gene variant A/G snv 0.27 0.700 1.000 1 2010 2010
dbSNP: rs7251432
rs7251432
HAMP
2 0.925 0.080 19 35284538 non coding transcript exon variant A/G;T snv 0.43 0.010 1.000 1 2008 2008
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 < 0.001 1 2017 2017
dbSNP: rs835576
rs835576
NOTCH2
2 0.925 0.080 1 119912963 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs916145
rs916145
USF2
2 0.925 0.080 19 35276981 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs952178
rs952178
LINC02492 ; LOC105377604
1 1.000 0.080 4 187604743 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs9612574
rs9612574 		1 1.000 0.080 22 20656929 upstream gene variant G/C snv 8.6E-02 0.700 1.000 1 2010 2010