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: rs1290398674
rs1290398674
GNAS
5 0.851 0.240 20 58854075 missense variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4930199
rs4930199
AIP
4 0.851 0.120 11 67490920 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs641081
rs641081
AIP ; MIR6752
4 0.851 0.120 11 67490352 missense variant C/A snv 0.96 0.84 0.010 1.000 1 2015 2015
dbSNP: rs73637412
rs73637412
GPR101
4 0.882 0.160 X 137030751 missense variant C/G;T snv 3.5E-03; 1.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2012 2012