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: rs121913507
rs121913507
KIT
35 0.638 0.286 4 54733155 missense variant A/T snp 0.020 1.000 2 2007 2015
dbSNP: rs121917894
rs121917894
RAG2 ; C11orf74
6 0.846 0.179 11 36593483 missense variant C/A,T snp 8.0E-06; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs37973
rs37973
GLCCI1 ; LOC100505921
3 0.923 0.107 7 7968245 intron variant G/A,C snp 0.63 0.010 1.000 1 2014 2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.010 1.000 1 2015 2015