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: rs1396171148
rs1396171148
FARSB
5 0.851 0.200 2 222613892 missense variant T/G snv 0.700 0
dbSNP: rs1419129874
rs1419129874
FARSB
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1466642025
rs1466642025
FARSB
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1553553086
rs1553553086
FARSB
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs1553554543
rs1553554543
FARSB
5 0.851 0.200 2 222631606 missense variant T/C snv 0.700 0
dbSNP: rs1558003446
rs1558003446
ATP1A2
2 1.000 0.080 1 160123327 frameshift variant -/TC delins 0.700 0
dbSNP: rs1558010146
rs1558010146
ATP1A2
2 1.000 0.080 1 160139668 stop gained G/T snv 0.700 0
dbSNP: rs730882227
rs730882227
OCLN
3 0.925 0.120 5 69509603 frameshift variant -/T delins 0.700 0