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: rs886039768
rs886039768
SLC5A7
1 1.000 2 107988298 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs147656110
rs147656110
SLC5A7
1 1.000 2 108008651 missense variant G/A snv 4.0E-06 7.0E-06 0.800 0
dbSNP: rs886039765
rs886039765
SLC5A7
1 1.000 2 107992121 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs886039766
rs886039766
SLC5A7
1 1.000 2 107992992 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1331713195
rs1331713195
SLC5A7
1 1.000 2 107997913 missense variant A/G snv 0.700 0
dbSNP: rs375397889
rs375397889
SLC5A7
1 1.000 2 108006179 missense variant T/C snv 5.6E-05 3.5E-05 0.700 0
dbSNP: rs886039767
rs886039767
SLC5A7
1 1.000 2 107988277 frameshift variant CATC/- delins 0.700 0