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: rs1182312612
rs1182312612
PNPLA1
2 0.925 0.080 6 36270559 missense variant G/A;C snv 2.6E-05; 6.5E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554138062
rs1554138062
PNPLA1
2 0.925 0.080 6 36294331 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs369445146
rs369445146
PNPLA1
2 0.925 0.080 6 36291449 missense variant C/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs781053760
rs781053760
PNPLA1
2 0.925 0.080 6 36291532 missense variant T/C snv 8.2E-06 2.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs1554162524
rs1554162524
ELOVL4
4 0.882 0.160 6 79925034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1569044747
rs1569044747
IL2RB
5 0.882 0.120 22 37139219 stop gained G/A snv 0.700 0
dbSNP: rs397514532
rs397514532
ALOX12B
3 0.882 0.080 17 8075607 missense variant G/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs318240748
rs318240748
TGM1
3 0.882 0.080 14 24260459 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs35312232
rs35312232
TGM1
2 0.925 0.080 14 24255457 missense variant C/A;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs531650682
rs531650682
TGM1
4 0.851 0.080 14 24261776 missense variant G/A;C snv 5.6E-05 9.1E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs757658720
rs757658720
TGM1
3 0.882 0.080 14 24249451 missense variant G/A;T snv 4.0E-06 0.010 < 0.001 1 2017 2017