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: rs1283391088
rs1283391088
HBA1
4 0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05 0.010 1.000 1 1993 1993
dbSNP: rs766814208
rs766814208
ENTPD1 ; ENTPD1-AS1
5 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 1993 1993
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 2010 2010