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: rs121909393
rs121909393
SLC4A11
1 1.000 0.200 20 3230515 missense variant C/T snv 0.800 1.000 1 2007 2007
dbSNP: rs121909394
rs121909394
SLC4A11
1 1.000 0.200 20 3228337 missense variant A/G snv 1.6E-05 4.9E-05 0.800 1.000 1 2007 2007
dbSNP: rs121909395
rs121909395
SLC4A11
1 1.000 0.200 20 3233937 missense variant A/G snv 4.0E-06 0.800 1.000 1 2007 2007
dbSNP: rs121909396
rs121909396
SLC4A11
1 1.000 0.200 20 3228299 missense variant T/C snv 8.0E-06 7.0E-06 0.800 1.000 1 2007 2007
dbSNP: rs748362724
rs748362724
SLC4A11
1 1.000 0.200 20 3228968 missense variant C/T snv 4.0E-06 2.8E-05 0.700 0
dbSNP: rs869320721
rs869320721
SLC4A11
1 1.000 0.200 20 3234174 frameshift variant GGCGAAGC/- delins 1.4E-05 0.700 0
dbSNP: rs869320722
rs869320722
SLC4A11
1 1.000 0.200 20 3230597 protein altering variant CGTA/T delins 0.700 0