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: rs546802775
rs546802775
GNPTAB
5 0.851 0.240 12 101765329 intron variant TTT/-;TT;TTTT delins 5.1E-06 0.700 0
dbSNP: rs137852897
rs137852897
GNPTAB
2 0.925 0.160 12 101753409 stop gained G/A snv 2.0E-05 1.4E-05 0.700 1.000 5 2005 2017
dbSNP: rs35333334
rs35333334
CHPT1 ; GNPTAB
2 0.925 0.160 12 101749181 stop gained G/A;T snv 4.0E-06 0.700 1.000 5 2005 2019
dbSNP: rs200646278
rs200646278
GNPTAB
3 0.882 0.160 12 101770429 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 3 2010 2019
dbSNP: rs281864982
rs281864982
GNPTAB
2 0.925 0.160 12 101765158 stop gained G/A snv 0.700 1.000 3 2010 2015
dbSNP: rs397507447
rs397507447
GNPTAB
2 0.925 0.160 12 101770182 stop gained G/A;T snv 4.0E-05; 4.0E-06 0.700 1.000 3 2010 2013
dbSNP: rs78347057
rs78347057
GNPTAB
2 0.925 0.160 12 101796744 stop gained G/A;T snv 8.0E-06; 2.6E-03 0.700 1.000 3 2010 2015
dbSNP: rs142065232
rs142065232
GNPTAB
2 0.925 0.160 12 101757236 stop gained A/T snv 2.0E-05 1.4E-05 0.700 1.000 2 2010 2015
dbSNP: rs281865009
rs281865009
GNPTAB
3 0.882 0.160 12 101761171 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 2 2010 2012
dbSNP: rs281864969
rs281864969
GNPTAB
2 0.925 0.160 12 101770519 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs137852896
rs137852896
GNPTAB
2 0.925 0.160 12 101789951 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs137852898
rs137852898
GNPTAB
2 0.925 0.160 12 101760106 stop gained G/C snv 4.0E-06 0.700 0
dbSNP: rs137852899
rs137852899
GNPTAB
1 1.000 0.160 12 101764236 stop gained C/T snv 0.700 0
dbSNP: rs1555267839
rs1555267839
CHPT1 ; GNPTAB
2 0.925 0.160 12 101749191 stop gained C/T snv 0.700 0
dbSNP: rs1555270066
rs1555270066
GNPTAB
2 0.925 0.160 12 101768055 stop gained CC/- delins 0.700 0
dbSNP: rs1555277081
rs1555277081
GNPTAB
2 0.925 0.160 12 101830637 stop gained G/T snv 0.700 0
dbSNP: rs281864950
rs281864950
GNPTAB
1 1.000 0.160 12 101796712 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs281864968
rs281864968
GNPTAB
1 1.000 0.160 12 101770579 stop gained G/A snv 0.700 0
dbSNP: rs281864981
rs281864981
GNPTAB
1 1.000 0.160 12 101766184 stop gained G/A snv 0.700 0
dbSNP: rs281864985
rs281864985
GNPTAB
1 1.000 0.160 12 101764918 stop gained C/A snv 0.700 0
dbSNP: rs281864998
rs281864998
GNPTAB
1 1.000 0.160 12 101764253 stop gained G/C snv 0.700 0
dbSNP: rs281865008
rs281865008
GNPTAB
1 1.000 0.160 12 101761201 stop gained G/A snv 0.700 0
dbSNP: rs137852900
rs137852900
GNPTAB
2 0.925 0.160 12 101770185 missense variant A/G snv 7.0E-06 0.800 1.000 15 2005 2017
dbSNP: rs281864953
rs281864953
GNPTAB
2 0.925 0.160 12 101790019 missense variant C/A snv 0.800 1.000 15 2005 2017
dbSNP: rs281864958
rs281864958
GNPTAB
1 1.000 0.160 12 101786038 missense variant A/T snv 0.700 1.000 15 2005 2017