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: rs1554669525
rs1554669525
TJP2
1 1.000 0.120 9 69254206 splice region variant TTCCAGACCCCCTGAGCCACAGAAAGCTCCTTCCAGACCTTATCAGGATACCAGAGGAAGTTATGGCAGTGATGCCGAGGAGGAGGAGTACCGCCAGCAGCTGTCAGAACACTCCAAGCGCGGTTACTATGGCCAGTCTGCCCGATACCGGGACACAGAATTATAG/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057518679
rs1057518679
TJP2
1 1.000 0.120 9 69227794 frameshift variant T/- delins 0.700 0
dbSNP: rs1060499649
rs1060499649
TJP2
1 1.000 0.120 9 69226175 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs1278244243
rs1278244243
TJP2
2 0.925 0.120 9 69225409 splice donor variant T/C snv 1.2E-05 0.700 0
dbSNP: rs1554660803
rs1554660803
TJP2
1 1.000 0.120 9 69221354 frameshift variant CG/- delins 0.700 0
dbSNP: rs587777518
rs587777518
TJP2
1 1.000 0.120 9 69221310 frameshift variant GCCT/- del 0.700 0
dbSNP: rs587777519
rs587777519
TJP2
1 1.000 0.120 9 69221426 frameshift variant C/- delins 0.700 0
dbSNP: rs587777520
rs587777520
TJP2
1 1.000 0.120 9 69228022 frameshift variant C/- del 0.700 0
dbSNP: rs587777521
rs587777521
TJP2
1 1.000 0.120 9 69236947 splice acceptor variant A/G snv 0.700 0
dbSNP: rs776869985
rs776869985
TJP2
1 1.000 0.120 9 69240013 frameshift variant T/-;TT delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs864321695
rs864321695
TJP2
1 1.000 0.120 9 69248011 splice acceptor variant G/T snv 0.700 0
dbSNP: rs864321697
rs864321697
TJP2
1 1.000 0.120 9 69221358 frameshift variant G/- delins 0.700 0
dbSNP: rs886041948
rs886041948
TJP2
1 1.000 0.120 9 69221112 frameshift variant -/CCTCA delins 0.700 0