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: rs1569249386
rs1569249386
PCNT
1 1.000 0.240 21 46397414 stop gained C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs119479061
rs119479061
PCNT
1 1.000 0.240 21 46346146 stop gained G/T snv 0.700 0
dbSNP: rs119479062
rs119479062
PCNT
1 1.000 0.240 21 46411840 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs119479063
rs119479063
PCNT
1 1.000 0.240 21 46367083 stop gained G/A;T snv 2.0E-05 0.700 0
dbSNP: rs119479064
rs119479064
PCNT
1 1.000 0.240 21 46435904 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1315359733
rs1315359733
PCNT
1 1.000 0.240 21 46411555 stop gained G/A;T snv 8.2E-06 0.700 0
dbSNP: rs1359618876
rs1359618876
PCNT
1 1.000 0.240 21 46390709 stop gained G/T snv 2.1E-05 0.700 0
dbSNP: rs1474939581
rs1474939581
PCNT
1 1.000 0.240 21 46443824 stop gained C/T snv 0.700 0
dbSNP: rs1555954786
rs1555954786
PCNT
1 1.000 0.240 21 46353985 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555956600
rs1555956600
PCNT
1 1.000 0.240 21 46357008 frameshift variant -/G delins 0.700 0
dbSNP: rs1555959737
rs1555959737
PCNT
1 1.000 0.240 21 46363457 splice acceptor variant ATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAA/- delins 0.700 0
dbSNP: rs1555962301
rs1555962301
PCNT
1 1.000 0.240 21 46367032 stop gained A/T snv 0.700 0
dbSNP: rs1555993038
rs1555993038
PCNT
1 1.000 0.240 21 46422071 stop gained C/T snv 0.700 0
dbSNP: rs1555999948
rs1555999948
PCNT
1 1.000 0.240 21 46430123 stop gained G/T snv 0.700 0
dbSNP: rs1569178877
rs1569178877
PCNT
1 1.000 0.240 21 46347513 splice donor variant G/A snv 0.700 0
dbSNP: rs1569239749
rs1569239749
PCNT
1 1.000 0.240 21 46389431 missense variant G/C snv 0.700 0
dbSNP: rs181690344
rs181690344
PCNT
1 1.000 0.240 21 46353115 stop gained C/T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs369195346
rs369195346
PCNT
1 1.000 0.240 21 46411651 stop gained G/A;T snv 1.6E-05; 8.1E-06 0.700 0
dbSNP: rs387906928
rs387906928
PCNT
1 1.000 0.240 21 46385979 stop gained G/A;T snv 6.0E-05 0.700 0
dbSNP: rs397509366
rs397509366
PCNT
1 1.000 0.240 21 46355577 frameshift variant A/- del 0.700 0
dbSNP: rs397514033
rs397514033
PCNT
1 1.000 0.240 21 46388844 frameshift variant -/T delins 0.700 0
dbSNP: rs587779355
rs587779355
PCNT
1 1.000 0.240 21 46326518 stop gained G/T snv 0.700 0
dbSNP: rs587784302
rs587784302
PCNT
1 1.000 0.240 21 46366955 frameshift variant CAGACTTTGAG/- delins 0.700 0
dbSNP: rs587784308
rs587784308
PCNT
1 1.000 0.240 21 46402388 stop gained G/T snv 0.700 0
dbSNP: rs587784312
rs587784312
PCNT
1 1.000 0.240 21 46411794 frameshift variant CCTGGCAGCC/- delins 0.700 0