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: rs199473373
rs199473373
KCNJ2
3 0.882 0.120 17 70175283 missense variant C/T snv 0.700 0
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2007 2013
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
4 0.882 0.160 9 5070831 intron variant C/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 < 0.001 1 2014 2014
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3742264
rs3742264
CPB2 ; CPB2-AS1
17 0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35 0.010 1.000 1 2007 2007