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: rs139430866
rs139430866
LXN ; GFM1
2 1.000 0.160 3 158652154 missense variant C/T snv 4.0E-05 7.0E-06 0.800 1.000 4 2004 2016
dbSNP: rs119470018
rs119470018
LXN ; GFM1
1 1.000 0.160 3 158646896 missense variant A/G snv 1.6E-05 0.800 0
dbSNP: rs119470020
rs119470020
LXN ; GFM1
1 1.000 0.160 3 158665443 missense variant T/G snv 0.800 0
dbSNP: rs119470019
rs119470019
GFM1
1 1.000 0.160 3 158645686 stop gained C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs1254972325
rs1254972325
GFM1
1 1.000 0.160 3 158645717 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1553847587
rs1553847587
LXN ; GFM1
1 1.000 0.160 3 158646770 missense variant A/C snv 0.700 0
dbSNP: rs1555047651
rs1555047651
NARS2
1 1.000 0.160 11 78574479 frameshift variant C/- delins 0.700 0
dbSNP: rs201408725
rs201408725
GFM1
1 1.000 0.160 3 158690264 missense variant C/T snv 6.4E-05 6.3E-05 0.700 0
dbSNP: rs751383065
rs751383065
NARS2
1 1.000 0.160 11 78436798 stop gained G/A;C snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs863224032
rs863224032
LXN ; GFM1
1 1.000 0.160 3 158652106 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0