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: 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: 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: rs104894273
rs104894273
PTS
1 1.000 0.120 11 112226517 missense variant G/A snv 0.800 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: rs1317230624
rs1317230624
PTS
1 1.000 0.120 11 112226521 missense variant G/T snv 1.0E-05 0.700 1.000 12 1994 2001
dbSNP: rs1449216377
rs1449216377
PTS
1 1.000 0.120 11 112228618 missense variant C/G snv 4.1E-06 0.700 1.000 12 1994 2001
dbSNP: rs1555198458
rs1555198458
PTS
1 1.000 0.120 11 112233215 missense variant A/G snv 0.700 1.000 12 1994 2001
dbSNP: rs1555198495
rs1555198495
PTS
1 1.000 0.120 11 112233457 missense variant A/G snv 0.700 1.000 12 1994 2001
dbSNP: rs1230781262
rs1230781262
PTS
1 1.000 0.120 11 112228591 splice region variant C/G;T snv 2.4E-04 0.700 1.000 4 1997 2017
dbSNP: rs1167104933
rs1167104933
PTS
2 0.925 0.120 11 112226516 stop gained C/G;T snv 0.800 1.000 2 1998 2013
dbSNP: rs780332520
rs780332520
PTS
1 1.000 0.120 11 112233507 frameshift variant A/- delins 1.6E-05 0.700 1.000 2 2009 2010
dbSNP: rs866922524
rs866922524
PTS
1 1.000 0.120 11 112230681 splice donor variant -/GG delins 0.700 1.000 2 1987 2006
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: 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: 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: rs750455879
rs750455879
PTS
1 1.000 0.120 11 112233208 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 12 1994 2001
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