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: rs1040441824
rs1040441824
PTS
4 0.882 0.200 11 112233502 missense variant A/G snv 2.1E-05 0.700 0
dbSNP: rs1256819927
rs1256819927
PTS
1 1.000 0.120 11 112230231 splice donor variant G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1328320990
rs1328320990
PTS
1 1.000 0.120 11 112228614 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs1555198165
rs1555198165
PTS
1 1.000 0.120 11 112229367 non coding transcript exon variant AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT/- delins 0.700 0
dbSNP: rs1555198233
rs1555198233
PTS
1 1.000 0.120 11 112230206 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555198263
rs1555198263
PTS
1 1.000 0.120 11 112230664 frameshift variant TC/- delins 0.700 0
dbSNP: rs1555198451
rs1555198451
PTS
1 1.000 0.120 11 112233162 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555198462
rs1555198462
PTS
1 1.000 0.120 11 112233234 splice donor variant G/C snv 0.700 0
dbSNP: rs1555198483
rs1555198483
PTS
1 1.000 0.120 11 112233430 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555198494
rs1555198494
PTS
1 1.000 0.120 11 112233452 frameshift variant T/- delins 0.700 0
dbSNP: rs763294577
rs763294577
GCH1
1 1.000 0.120 14 54902390 missense variant G/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs776543880
rs776543880
PTS
1 1.000 0.120 11 112233431 splice acceptor variant G/A;C snv 4.1E-06 0.700 0
dbSNP: rs794726657
rs794726657
PTS
1 1.000 0.120 11 112228271 intron variant A/T snv 0.700 0
dbSNP: rs927103678
rs927103678
PTS
1 1.000 0.120 11 112226527 splice donor variant G/A snv 0.700 0
dbSNP: rs104894280
rs104894280
PTS
2 0.925 0.120 11 112233205 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 21 1994 2015
dbSNP: rs104894275
rs104894275
PTS
3 0.882 0.120 11 112228665 missense variant A/G snv 1.2E-04 7.0E-06 0.800 1.000 18 1994 2017
dbSNP: rs104894276
rs104894276
PTS
3 0.882 0.120 11 112233178 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.800 1.000 18 1994 2015
dbSNP: rs370340361
rs370340361
PTS
1 1.000 0.120 11 112230639 missense variant C/T snv 6.8E-05 1.4E-05 0.800 1.000 18 1994 2015
dbSNP: rs104894277
rs104894277
PTS
2 0.925 0.120 11 112230210 missense variant G/A;C snv 1.6E-05; 8.0E-06 0.800 1.000 15 1994 2014
dbSNP: rs765406631
rs765406631
PTS
1 1.000 0.120 11 112233179 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 15 1994 2013
dbSNP: rs200712908
rs200712908
PTS
2 0.925 0.120 11 112233434 missense variant C/T snv 1.2E-04 9.8E-05 0.800 1.000 14 1994 2013
dbSNP: rs104894273
rs104894273
PTS
1 1.000 0.120 11 112226517 missense variant G/A snv 0.800 1.000 12 1994 2001
dbSNP: rs104894274
rs104894274
PTS
1 1.000 0.120 11 112226489 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 12 1994 2001
dbSNP: rs104894278
rs104894278
PTS
2 0.925 0.120 11 112228649 missense variant A/G snv 4.0E-06 0.700 1.000 12 1994 2001
dbSNP: rs104894279
rs104894279
PTS
2 0.925 0.120 11 112233464 missense variant A/G snv 7.0E-06 0.800 1.000 12 1994 2001