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: rs267606914
rs267606914
NKX2-6 ; LOC107986930
2 0.925 0.080 8 23702906 missense variant A/G snv 0.700 0
dbSNP: rs387906813
rs387906813
GATA6
3 0.882 0.080 18 22181546 missense variant A/C;G snv 0.700 0
dbSNP: rs1424438515
rs1424438515
F11
2 0.925 0.080 4 186274140 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs61743125
rs61743125
PTCRA
3 0.882 0.080 6 42925677 missense variant G/A snv 2.0E-02 1.9E-02 0.010 1.000 1 2018 2018