Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515540
rs397515540
DNAH5
1.000 0.160 5 13753290 frameshift variant A/- del 1.6E-04 2.1E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 4 2006 2014
dbSNP: rs548521732
rs548521732
DNAH5
1.000 0.160 5 13839530 splice acceptor variant T/C snv 4.0E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 4 2002 2016
dbSNP: rs575017579
rs575017579
DNAH5
5 13840968 stop gained G/A;C snv 2.8E-05; 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 4 2009 2016
dbSNP: rs200901816
rs200901816
DNAH5
1.000 0.160 5 13701289 stop gained G/A snv 6.0E-05 6.3E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2006 2015
dbSNP: rs571919972
rs571919972
DNAH5
1.000 0.160 5 13758881 stop gained G/A snv 5.2E-05 4.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2012 2014
dbSNP: rs727504802
rs727504802
DNAH5
5 13770905 frameshift variant C/- delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2002 2013
dbSNP: rs752925056
rs752925056
DNAH5
5 13841051 frameshift variant -/T delins 6.0E-05 4.9E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2002 2016
dbSNP: rs753130398
rs753130398
DNAH5
5 13788865 missense variant C/T snv 1.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2013 2016
dbSNP: rs753614861
rs753614861
DNAH5
1.000 0.160 5 13830026 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 1990 2013
dbSNP: rs769458738
rs769458738
DNAH5
5 13753489 missense variant C/T snv 2.0E-05 6.3E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2012 2015
dbSNP: rs775696136
rs775696136
DNAH5
5 13701316 frameshift variant -/A delins 6.4E-05 8.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2006 2014
dbSNP: rs878854457
rs878854457
DNAH5
5 13850651 splice donor variant C/G snv 4.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2002 2012
dbSNP: rs1060501460
rs1060501460
DNAH5
1.000 0.160 5 13776447 frameshift variant A/- delins 1.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1060501461
rs1060501461
DNAH5
5 13829661 frameshift variant T/- delins 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1304504006
rs1304504006
DNAH5
5 13753490 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2009 2013
dbSNP: rs1484826593
rs1484826593
DNAH5
5 13718880 splice donor variant A/C;T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs148891849
rs148891849
DNAH5
5 13841895 stop gained G/A;C;T snv 2.2E-05; 8.0E-04; 4.3E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2006 2009
dbSNP: rs1561097225
rs1561097225
DNAH5
5 13714621 splice acceptor variant C/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1561215953
rs1561215953
DNAH5
5 13770982 splice acceptor variant T/A snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1561524235
rs1561524235
DNAH5
5 13894822 splice acceptor variant C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1561532139
rs1561532139
DNAH5
5 13899532 splice donor variant AAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAATTCTCCAAACAACTCTGCTGCCATCCCAGTTCAAGCTCTCATCTTCATCCTGGGCCAGTGCAACACTTCACAAACAGGCTTCCCGCTGATACCCCTCGTCCCTCTTAACATCCATTTTCCACCCAGCAGTAAGAATAACTTTTATTATAAAAAGAGATCGTGCCTTTTTCAGTGGCTCGAAATCCTCCAATGGTTTCCTGGTACACTCAAAATAAAACCCAAGCTTCTCATCTTGGCCTGCAAGACCTGTAACGGCCTGGCCCCAGCCAACTCTGCAGCTGCACCCCATGGCACTGTCCCCTCAGTCACTCCATTCATCCTGGCCACTTTCTGCTCCTTGAATATGACACATCACCATATTTTTTTATAATACATTCCAGAGCTAGCCAAGAATGGGGGGAAAAAATAAAAGTAGTATACCTTCATGTTA/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs565076112
rs565076112
DNAH5
5 13922330 splice acceptor variant T/C snv 2.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs727502971
rs727502971
DNAH5
5 13708264 frameshift variant GTCT/- delins 2.0E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2006 2009
dbSNP: rs727502973
rs727502973
DNAH5
1.000 0.160 5 13788721 missense variant G/C snv 1.6E-05 2.1E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2014 2015
dbSNP: rs755136231
rs755136231
DNAH5
1.000 0.160 5 13791995 frameshift variant TTTGGTTC/- del 2.0E-05 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006