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: rs121434284
rs121434284
IVD
2 0.925 0.080 15 40405952 missense variant T/C snv 0.700 1.000 6 1991 2017
dbSNP: rs786204427
rs786204427
IVD
1 1.000 0.080 15 40411257 splice acceptor variant CA/GG mnv 0.700 1.000 3 2000 2011
dbSNP: rs786204613
rs786204613
IVD
1 1.000 0.080 15 40418168 frameshift variant T/- delins 0.700 1.000 3 1991 2012
dbSNP: rs1477527791
rs1477527791
IVD
1 1.000 0.080 15 40418175 missense variant G/A snv 1.4E-05 0.800 1.000 2 2012 2014
dbSNP: rs1555404784
rs1555404784
IVD
1 1.000 0.080 15 40414888 splice acceptor variant G/A snv 0.700 1.000 2 1998 2000
dbSNP: rs769048174
rs769048174
IVD
1 1.000 0.080 15 40410722 frameshift variant T/- del 7.0E-06 0.700 1.000 2 2000 2013
dbSNP: rs1398838997
rs1398838997
IVD
1 1.000 0.080 15 40410627 splice acceptor variant G/A snv 3.5E-05 0.700 1.000 1 2006 2006
dbSNP: rs1555405428
rs1555405428
IVD
1 1.000 0.080 15 40418219 frameshift variant GGCGGCTGGTCATCGGCAGAGCCTTCAA/- delins 0.700 1.000 1 2000 2000
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: rs398123679
rs398123679
IVD
1 1.000 0.080 15 40416290 missense variant G/A snv 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: rs745629936
rs745629936
IVD
1 1.000 0.080 15 40414983 splice donor variant G/A snv 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