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: rs1057516769
rs1057516769
IVD
1 1.000 0.080 15 40413046 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517043
rs1057517043
IVD
1 1.000 0.080 15 40411554 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517056
rs1057517056
IVD
1 1.000 0.080 15 40416076 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057517379
rs1057517379
IVD
1 1.000 0.080 15 40405929 frameshift variant CG/- del 0.700 0
dbSNP: rs1555403211
rs1555403211
IVD
1 1.000 0.080 15 40407647 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs1555403942
rs1555403942
IVD
1 1.000 0.080 15 40410819 splice acceptor variant ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC/GTTG delins 0.700 0
dbSNP: rs1555404426
rs1555404426
IVD
1 1.000 0.080 15 40413013 frameshift variant -/T delins 0.700 0
dbSNP: rs1555405067
rs1555405067
IVD
1 1.000 0.080 15 40416077 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1555405070
rs1555405070
IVD
1 1.000 0.080 15 40416090 frameshift variant A/- delins 0.700 0
dbSNP: rs1555405080
rs1555405080
IVD
1 1.000 0.080 15 40416109 frameshift variant C/- delins 0.700 0
dbSNP: rs1566936542
rs1566936542
IVD
1 1.000 0.080 15 40411601 frameshift variant C/- delins 0.700 0
dbSNP: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs377147994
rs377147994
IVD
1 1.000 0.080 15 40411354 splice donor variant G/A snv 8.0E-06 7.0E-05 0.700 0
dbSNP: rs398123679
rs398123679
IVD
1 1.000 0.080 15 40416290 missense variant G/A snv 0.700 0
dbSNP: rs398123681
rs398123681
IVD
1 1.000 0.080 15 40418174 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs398123682
rs398123682
IVD
1 1.000 0.080 15 40410738 frameshift variant TG/- del 7.0E-06 0.700 0
dbSNP: rs398123684
rs398123684
IVD
1 1.000 0.080 15 40411301 frameshift variant G/- del 2.0E-05 1.4E-05 0.700 0
dbSNP: rs745629936
rs745629936
IVD
1 1.000 0.080 15 40414983 splice donor variant G/A snv 0.700 0
dbSNP: rs747273828
rs747273828
IVD
1 1.000 0.080 15 40407696 missense variant G/A;C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs763471771
rs763471771
IVD
1 1.000 0.080 15 40413088 splice donor variant G/A snv 8.0E-06 0.700 0
dbSNP: rs765815516
rs765815516
IVD
1 1.000 0.080 15 40407723 stop gained C/T snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs781630355
rs781630355
IVD
1 1.000 0.080 15 40411621 frameshift variant T/- delins 2.8E-05 2.8E-05 0.700 0
dbSNP: rs886042098
rs886042098
IVD
1 1.000 0.080 15 40414967 missense variant C/T snv 0.700 0
dbSNP: rs907414760
rs907414760
IVD
1 1.000 0.080 15 40405871 stop gained G/A;C snv 7.0E-06 0.700 0
dbSNP: rs928991928
rs928991928
IVD
1 1.000 0.080 15 40405972 splice donor variant G/A;C snv 0.700 0