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: rs121912550
rs121912550
IMPDH1
5 0.827 0.120 7 128398557 missense variant C/T snv 4.0E-06 0.710 1.000 1 2006 2006
dbSNP: rs121912551
rs121912551
IMPDH1
1 1.000 0.080 7 128398431 missense variant C/T snv 4.8E-05 6.3E-05 0.700 0
dbSNP: rs121912552
rs121912552
IMPDH1
3 0.882 0.080 7 128398562 missense variant C/G snv 0.700 0
dbSNP: rs886037911
rs886037911
IMPDH1
1 1.000 0.080 7 128398504 missense variant C/G snv 0.700 0
dbSNP: rs1042253
rs1042253
IMPDH1
4 0.851 0.120 7 128398543 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs137852534
rs137852534
PGK1
4 0.851 0.120 X 78123196 missense variant T/C snv 1.1E-05 0.010 1.000 1 2006 2006
dbSNP: rs200729507
rs200729507
IMPDH1
4 0.851 0.120 7 128396990 missense variant G/A;C;T snv 7.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs759995866
rs759995866
IMPDH1
4 0.851 0.120 7 128398478 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006