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: rs121908494
rs121908494
SLC6A5
2 1.000 11 20628056 missense variant A/G snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs121908495
rs121908495
SLC6A5
2 1.000 11 20638477 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121908496
rs121908496
SLC6A5
2 1.000 11 20607583 missense variant C/G snv 0.700 0
dbSNP: rs121908497
rs121908497
SLC6A5
2 1.000 11 20630717 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs121908498
rs121908498
SLC6A5
2 1.000 11 20626721 missense variant C/A;T snv 8.0E-06; 3.6E-05 0.700 0
dbSNP: rs281864923
rs281864923
SLC6A5
1 11 20601444 frameshift variant C/- delins 0.700 0
dbSNP: rs281864924
rs281864924
SLC6A5
2 1.000 11 20626741 frameshift variant G/TT delins 0.700 0
dbSNP: rs281864925
rs281864925
SLC6A5
1 11 20628028 missense variant T/C snv 0.700 0
dbSNP: rs281864926
rs281864926
SLC6A5
2 1.000 11 20630721 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs730882208
rs730882208
CTSD
1 11 1753572 protein altering variant -/TGAAGACGTCGCCCA delins 0.700 0
dbSNP: rs121908539
rs121908539
GPHN
1 14 66508555 missense variant A/T snv 1.9E-04 1.5E-04 0.010 1.000 1 2003 2003