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: rs201322234
rs201322234
GFPT1
1 1.000 2 69363563 missense variant G/A snv 1.4E-04 2.9E-04 0.800 1.000 3 2011 2017
dbSNP: rs387906638
rs387906638
GFPT1
1 1.000 2 69374078 missense variant T/C snv 0.800 1.000 1 2011 2011
dbSNP: rs199678034
rs199678034
GFPT1
1 1.000 2 69326167 3 prime UTR variant G/A;C;T snv 2.0E-05; 1.3E-03 0.700 1.000 4 2011 2015
dbSNP: rs1011196447
rs1011196447
GFPT1
2 0.925 0.080 2 69354314 splice acceptor variant T/C snv 2.1E-05 0.700 1.000 2 2013 2017
dbSNP: rs1363498649
rs1363498649
GFPT1
1 1.000 2 69338561 missense variant C/T snv 1.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs1378864996
rs1378864996
GFPT1
1 1.000 2 69356506 missense variant C/A snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1553389102
rs1553389102
GFPT1
1 1.000 2 69345903 splice donor variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1024585946
rs1024585946
GFPT1
1 1.000 2 69329693 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1558749457
rs1558749457
GFPT1
1 1.000 2 69348198 stop gained G/A snv 0.700 0
dbSNP: rs1558761046
rs1558761046
GFPT1
1 1.000 2 69358420 missense variant G/T snv 0.700 0
dbSNP: rs1558762013
rs1558762013
GFPT1
1 1.000 2 69359263 splice region variant C/T snv 0.700 0
dbSNP: rs1558773839
rs1558773839
GFPT1
1 1.000 2 69370023 frameshift variant AACTT/- delins 0.700 0
dbSNP: rs751097758
rs751097758
GFPT1
1 1.000 2 69374077 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs753866967
rs753866967
GFPT1
1 1.000 2 69359314 missense variant A/G snv 4.0E-05 7.0E-05 0.700 0
dbSNP: rs775399768
rs775399768
GFPT1
1 1.000 2 69374071 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs922548333
rs922548333
GFPT1
1 1.000 2 69374080 missense variant C/A;T snv 7.0E-06 0.700 0