Gene: GNAT2 ×
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: rs121434585
rs121434585
GNAT2
1 1.000 0.160 1 109610108 stop gained G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs1557917535
rs1557917535
GNAT2
1 1.000 0.160 1 109603464 frameshift variant T/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1557917899
rs1557917899
GNAT2
1 1.000 0.160 1 109604018 frameshift variant -/TTGA delins 0.700 1.000 1 2002 2002
dbSNP: rs1557918911
rs1557918911
GNAT2
1 1.000 0.160 1 109606394 frameshift variant -/A delins 0.700 1.000 1 2002 2002
dbSNP: rs1557920291
rs1557920291
GNAT2
1 1.000 0.160 1 109610052 frameshift variant TTCAGCA/ATACAG delins 0.700 1.000 1 2002 2002
dbSNP: rs748981899
rs748981899
GNAT2
1 1.000 0.160 1 109603482 stop gained G/A snv 1.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs1240543072
rs1240543072
GNAT2
1 1.000 0.160 1 109612764 missense variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs1403825722
rs1403825722
GNAT2
1 1.000 0.160 1 109608779 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs146606352
rs146606352
GNAT2
1 1.000 0.160 1 109610487 missense variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1557918544
rs1557918544
GNAT2
1 1.000 0.160 1 109605968 splice donor variant A/G snv 0.700 0
dbSNP: rs1557918638
rs1557918638
GNAT2
1 1.000 0.160 1 109606101 splice acceptor variant T/G snv 0.700 0
dbSNP: rs397515384
rs397515384
GNAT2
2 0.925 0.160 1 109608607 intron variant C/T snv 0.700 0
dbSNP: rs745308973
rs745308973
GNAT2
1 1.000 0.160 1 109606417 stop gained G/A snv 1.6E-05 3.5E-05 0.700 0