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: rs121912792
rs121912792
CHN1
1 1.000 0.120 2 174944942 missense variant T/A;C snv 0.800 1.000 1 2008 2008
dbSNP: rs121912793
rs121912793
CHN1
2 0.925 0.120 2 174878011 missense variant A/C snv 7.0E-06 0.800 1.000 1 2008 2008
dbSNP: rs121912794
rs121912794
CHN1
1 1.000 0.120 2 174877962 missense variant A/G snv 0.800 1.000 1 2008 2008
dbSNP: rs121912795
rs121912795
CHN1
1 1.000 0.120 2 174824478 missense variant G/A snv 0.800 1.000 1 2008 2008
dbSNP: rs121912796
rs121912796
CHN1
1 1.000 0.120 2 174824464 missense variant C/T snv 0.800 1.000 1 2008 2008
dbSNP: rs121912797
rs121912797
CHN1
1 1.000 0.120 2 174812440 missense variant G/T snv 0.800 1.000 1 2008 2008
dbSNP: rs121912798
rs121912798
CHN1
1 1.000 0.120 2 174811538 missense variant C/T snv 0.800 1.000 1 2008 2008
dbSNP: rs879255275
rs879255275
MAFB
2 0.925 0.120 20 40688048 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs879255276
rs879255276
MAFB
3 0.882 0.120 20 40688411 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs879255277
rs879255277
MAFB
3 0.882 0.120 20 40688207 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs1553475005
rs1553475005
CHN1
4 1.000 0.120 2 174824485 missense variant A/G snv 0.700 0
dbSNP: rs387906599
rs387906599
CHN1
1 1.000 0.120 2 174877967 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs387906600
rs387906600
CHN1
1 1.000 0.120 2 174812441 missense variant G/A snv 0.700 0