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: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2007 2009
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs764670582
rs764670582
GJA1
5 0.827 0.120 6 121447563 missense variant G/A snv 2.4E-05 4.2E-05 0.010 1.000 1 2013 2013