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: rs1555403211
rs1555403211
IVD
1 1.000 0.080 15 40407647 frameshift variant -/ATGG delins 0.700 0
dbSNP: rs759159766
rs759159766
IVD
1 1.000 0.080 15 40414968 frameshift variant -/G delins 1.2E-05; 8.0E-06 7.0E-06 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: rs1555404426
rs1555404426
IVD
1 1.000 0.080 15 40413013 frameshift variant -/T delins 0.700 0
dbSNP: rs1555405070
rs1555405070
IVD
1 1.000 0.080 15 40416090 frameshift variant A/- delins 0.700 0
dbSNP: rs771914739
rs771914739
IVD
1 1.000 0.080 15 40411258 splice acceptor variant A/C;G snv 4.0E-06; 8.0E-06 0.700 1.000 2 2000 2007
dbSNP: rs373594717
rs373594717
IVD
1 1.000 0.080 15 40405819 start lost A/C;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 1990 1992
dbSNP: rs773560012
rs773560012
IVD
1 1.000 0.080 15 40418190 missense variant A/G snv 1.6E-05 7.0E-06 0.800 1.000 9 1991 2017
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2010 2010
dbSNP: rs1057517056
rs1057517056
IVD
1 1.000 0.080 15 40416076 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555403942
rs1555403942
IVD
1 1.000 0.080 15 40410819 splice acceptor variant ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC/GTTG 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: rs34695403
rs34695403
IVD
1 1.000 0.080 15 40407639 missense variant C/G;T snv 2.4E-05; 1.2E-05 0.700 1.000 3 2000 2007
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: rs28940889
rs28940889
IVD
1 1.000 0.080 15 40415454 missense variant C/T snv 6.4E-04 7.5E-04 0.800 1.000 10 1991 2017
dbSNP: rs371427844
rs371427844
IVD
1 1.000 0.080 15 40418165 missense variant C/T snv 4.0E-06 4.2E-05 0.800 1.000 6 1991 2017
dbSNP: rs776015412
rs776015412
IVD
1 1.000 0.080 15 40410690 stop gained C/T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs796051983
rs796051983
IVD
1 1.000 0.080 15 40415412 missense variant C/T snv 8.0E-06 0.700 1.000 1 2014 2014
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: rs886042098
rs886042098
IVD
1 1.000 0.080 15 40414967 missense variant C/T snv 0.700 0
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: rs1057517379
rs1057517379
IVD
1 1.000 0.080 15 40405929 frameshift variant CG/- del 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: rs142761835
rs142761835
IVD
1 1.000 0.080 15 40410699 missense variant G/A snv 2.8E-05 1.3E-04 0.800 1.000 8 1991 2017