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: rs74315483
rs74315483
ARSA
2 0.925 0.120 22 50626682 missense variant C/T snv 4.0E-06 0.710 1.000 1 2002 2002
dbSNP: rs74315456
rs74315456
ARSA
2 0.925 0.120 22 50627338 missense variant G/A snv 3.4E-05 3.5E-05 0.700 0
dbSNP: rs74315459
rs74315459
ARSA
2 0.925 0.120 22 50626202 missense variant C/A;T snv 2.9E-05 0.700 0
dbSNP: rs74315484
rs74315484
ARSA
2 0.925 0.120 22 50626228 missense variant C/A snv 0.700 0
dbSNP: rs2071421
rs2071421
ARSA
7 0.790 0.200 22 50625988 missense variant T/C snv 0.17 0.19 0.020 1.000 2 2002 2004
dbSNP: rs74315472
rs74315472
ARSA
3 0.882 0.120 22 50626618 missense variant G/A snv 1.4E-05 0.020 1.000 2 1993 1996
dbSNP: rs199476392
rs199476392
ARSA
2 0.925 0.120 22 50625386 missense variant A/G snv 0.010 1.000 1 1997 1997
dbSNP: rs28940893
rs28940893
ARSA
6 0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 0.010 1.000 1 1995 1995
dbSNP: rs74315475
rs74315475
ARSA
4 0.851 0.120 22 50626033 missense variant T/A snv 3.4E-05 6.3E-05 0.010 1.000 1 1996 1996
dbSNP: rs80338819
rs80338819
ARSA
2 0.925 0.120 22 50626676 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 1996 1996