Source: CURATED ×
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: rs398122974
rs398122974
ASNS ; CZ1P-ASNS
1 1.000 7 97852297 missense variant G/A snv 1.6E-05 1.4E-05 0.810 1.000 3 2013 2016
dbSNP: rs398122973
rs398122973
ASNS ; CZ1P-ASNS
1 1.000 7 97855406 missense variant A/C snv 0.800 1.000 1 2013 2013
dbSNP: rs398122975
rs398122975
ASNS ; CZ1P-ASNS
1 1.000 7 97869140 missense variant G/A;T snv 2.4E-05; 1.2E-05 0.800 1.000 1 2013 2013
dbSNP: rs148111963
rs148111963
ASNS ; CZ1P-ASNS
1 1.000 7 97858901 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1481539409
rs1481539409
ASNS ; CZ1P-ASNS
2 1.000 7 97859285 frameshift variant T/- delins 0.700 0
dbSNP: rs1554350554
rs1554350554
ASNS ; CZ1P-ASNS
1 1.000 7 97868955 missense variant G/T snv 0.700 0
dbSNP: rs1562817048
rs1562817048
ASNS ; CZ1P-ASNS
1 1.000 7 97859317 stop gained A/C snv 0.700 0
dbSNP: rs769236847
rs769236847
ASNS ; CZ1P-ASNS
1 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.700 0
dbSNP: rs780288372
rs780288372
ASNS ; CZ1P-ASNS
1 1.000 7 97856689 splice donor variant C/T snv 4.1E-06 0.700 0
dbSNP: rs797045306
rs797045306
ASNS ; CZ1P-ASNS
1 1.000 7 97864333 missense variant T/A snv 0.700 0
dbSNP: rs797045307
rs797045307
ASNS ; CZ1P-ASNS
1 1.000 7 97864268 frameshift variant C/- del 0.700 0
dbSNP: rs948326794
rs948326794
ASNS ; CZ1P-ASNS
2 1.000 7 97854653 stop gained C/A;G snv 1.4E-05 0.700 0