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: rs948931144
rs948931144
RMRP ; CCDC107
2 0.925 0.200 9 35657823 non coding transcript exon variant G/A;C;T snv 6.9E-05; 7.7E-06 0.700 1.000 4 2002 2007
dbSNP: rs1156413585
rs1156413585
RMRP ; CCDC107
1 1.000 0.160 9 35657978 non coding transcript exon variant C/T snv 7.7E-06 0.700 1.000 3 2005 2010
dbSNP: rs1554651393
rs1554651393
RMRP ; CCDC107
1 1.000 0.160 9 35658018 upstream gene variant -/ACGTCCTCAG delins 0.700 1.000 3 2001 2007
dbSNP: rs1554651395
rs1554651395
RMRP ; CCDC107
1 1.000 0.160 9 35658018 upstream gene variant -/AACGTCCTCAGCTTCA delins 0.700 1.000 3 2001 2007
dbSNP: rs1554651428
rs1554651428
RMRP ; CCDC107
1 1.000 0.160 9 35658022 upstream gene variant -/CCTCAGCTTCACAGAGTAG delins 0.700 1.000 3 2001 2007
dbSNP: rs1554651453
rs1554651453
RMRP ; CCDC107
1 1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGTAG delins 0.700 1.000 3 2001 2007
dbSNP: rs1554651507
rs1554651507
RMRP ; CCDC107
2 0.925 0.200 9 35658030 upstream gene variant -/TCACAGAGTA delins 0.700 1.000 3 2001 2005
dbSNP: rs1554651512
rs1554651512
RMRP ; CCDC107
1 1.000 0.160 9 35658030 upstream gene variant -/CACAGAGT delins 0.700 1.000 3 2001 2007
dbSNP: rs1554651513
rs1554651513
RMRP ; CCDC107
1 1.000 0.160 9 35658030 upstream gene variant -/CACAGAGTAGT delins 0.700 1.000 3 2001 2007
dbSNP: rs1554651544
rs1554651544
RMRP ; CCDC107
1 1.000 0.160 9 35658035 upstream gene variant -/GAAGCTGAGTAGTA delins 0.700 1.000 3 2001 2007
dbSNP: rs199476103
rs199476103
RMRP ; CCDC107
4 0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03 0.700 1.000 3 2002 2007
dbSNP: rs1554651524
rs1554651524
RMRP ; CCDC107
1 1.000 0.160 9 35658031 upstream gene variant -/CACAGAGTAG delins 0.700 1.000 2 2005 2006
dbSNP: rs1563907883
rs1563907883
RMRP ; CCDC107
1 1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCACAGAGTAGT delins 0.700 1.000 2 2005 2008
dbSNP: rs192060920
rs192060920
RMRP ; CCDC107
1 1.000 0.160 9 35657807 non coding transcript exon variant G/A;C snv 6.2E-05; 7.8E-06 0.700 1.000 2 2002 2006
dbSNP: rs751921616
rs751921616
RMRP ; CCDC107
2 0.925 0.200 9 35658026 upstream gene variant -/CTTCACAGAGTAG;CTTCACAGAGTAGCTTCACAGAGTAG delins 7.9E-06; 6.3E-05; 7.9E-06; 7.9E-06; 1.6E-05; 3.2E-05 0.700 1.000 2 2005 2017
dbSNP: rs936059863
rs936059863
RMRP ; CCDC107
2 0.925 0.200 9 35657800 non coding transcript exon variant T/C;G snv 1.5E-05; 7.7E-06 0.700 1.000 2 2003 2007
dbSNP: rs1554651373
rs1554651373
RMRP ; CCDC107
1 1.000 0.160 9 35658017 non coding transcript exon variant -/GTCCTCAGCTTCAC delins 0.700 1.000 1 2002 2002
dbSNP: rs1554651400
rs1554651400
RMRP ; CCDC107
1 1.000 0.160 9 35658019 upstream gene variant -/CGTCCTCAGCTTC;GTCCTCAGCTTC delins 0.700 1.000 1 2002 2002
dbSNP: rs727502774
rs727502774
RMRP ; CCDC107
1 1.000 0.160 9 35657756 non coding transcript exon variant C/A;G;T snv 8.1E-06; 1.6E-05 0.700 1.000 1 2002 2002
dbSNP: rs727502777
rs727502777
RMRP ; CCDC107
1 1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGTA delins 0.700 1.000 1 2011 2011
dbSNP: rs920074067
rs920074067
RMRP ; CCDC107
1 1.000 0.160 9 35658024 upstream gene variant -/CAGCTTCACAGAGTAGT;TCAGCTTCACAGAGTAGT delins 0.700 1.000 1 2011 2011
dbSNP: rs1218494857
rs1218494857
RMRP ; CCDC107
1 1.000 0.160 9 35658018 upstream gene variant -/TCTCAGCTTCACAGAGACGT;TCTCAGCTTCACAGAGTACGT;TCTCAGCTTTACGT delins 0.700 0
dbSNP: rs1230629953
rs1230629953
RMRP ; CCDC107
1 1.000 0.160 9 35658025 upstream gene variant -/CTTCACAG;CTTCACAGCTTCACAG;TCCCCAGCTTCACAG delins 1.4E-05 0.700 0
dbSNP: rs1554651365
rs1554651365
RMRP ; CCDC107
1 1.000 0.160 9 35658016 non coding transcript exon variant -/CACGTCCTC delins 0.700 0
dbSNP: rs1554651368
rs1554651368
RMRP ; CCDC107
1 1.000 0.160 9 35658017 non coding transcript exon variant -/TCTCAGCTCACGT;TCTCAGCTTCACAGACACGT;TCTCAGCTTCACAGAGCACGT delins 0.700 0