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: rs1554651506
rs1554651506
RMRP ; CCDC107
1 1.000 0.160 9 35658030 upstream gene variant -/TCACAGA delins 0.700 1.000 8 2001 2008
dbSNP: rs1554651411
rs1554651411
RMRP ; CCDC107
1 1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGTAGT;GTCCTCAGCTTCACAGAGTAGT delins 0.700 1.000 6 2001 2007
dbSNP: rs1554651153
rs1554651153
RMRP ; CCDC107
1 1.000 0.160 9 35657836 non coding transcript exon variant C/A;G;T snv 0.700 1.000 5 2005 2015
dbSNP: rs1554651499
rs1554651499
RMRP ; CCDC107
1 1.000 0.160 9 35658029 upstream gene variant -/CACAGAGTAGTATT delins 0.700 1.000 5 2001 2010
dbSNP: rs1554651543
rs1554651543
RMRP ; CCDC107
2 0.925 0.200 9 35658035 upstream gene variant -/GAGTAGT delins 0.700 1.000 5 2001 2010
dbSNP: rs727502778
rs727502778
RMRP ; CCDC107
1 1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGT delins 2.4E-04; 3.1E-05; 6.3E-05; 7.9E-06; 7.9E-06; 7.9E-06 0.700 1.000 5 2001 2007
dbSNP: rs752934195
rs752934195
RMRP ; CCDC107
1 1.000 0.160 9 35658017 non coding transcript exon variant -/CGTCCTCA delins 1.7E-04; 7.8E-06; 2.3E-05; 3.1E-05; 3.1E-05; 4.7E-05 0.700 1.000 5 2001 2008
dbSNP: rs753874439
rs753874439
RMRP ; CCDC107
2 0.925 0.200 9 35657872 non coding transcript exon variant C/A;G;T snv 7.7E-06; 3.1E-05; 4.6E-05 0.700 1.000 5 2002 2010
dbSNP: rs781730798
rs781730798
RMRP ; CCDC107
2 0.925 0.200 9 35658029 upstream gene variant -/TTCACAGAGTAGT delins 0.700 1.000 5 2001 2008
dbSNP: rs1554651364
rs1554651364
RMRP ; CCDC107
1 1.000 0.160 9 35658016 non coding transcript exon variant -/TCTCAGCTTCCACGT delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651382
rs1554651382
RMRP ; CCDC107
1 1.000 0.160 9 35658017 non coding transcript exon variant -/CACGTCCTCAGCTTCACAGA delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651396
rs1554651396
RMRP ; CCDC107
1 1.000 0.160 9 35658018 upstream gene variant -/CGTCCTCAGCTTCACAGA delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651413
rs1554651413
RMRP ; CCDC107
2 0.925 0.200 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAGTAGTA delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651422
rs1554651422
RMRP ; CCDC107
1 1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCAC delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651464
rs1554651464
RMRP ; CCDC107
1 1.000 0.160 9 35658024 upstream gene variant -/TCAGCTTCACA delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651466
rs1554651466
RMRP ; CCDC107
1 1.000 0.160 9 35658024 upstream gene variant -/TCAGCTTCACAG delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651473
rs1554651473
RMRP ; CCDC107
1 1.000 0.160 9 35658025 upstream gene variant -/CAGCTTCACAGAGTAGTA delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651489
rs1554651489
RMRP ; CCDC107
2 0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAG delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651491
rs1554651491
RMRP ; CCDC107
1 1.000 0.160 9 35658027 upstream gene variant -/GCTTCACAGAGTAGTAT delins 0.700 1.000 4 2001 2007
dbSNP: rs1554651532
rs1554651532
RMRP ; CCDC107
1 1.000 0.160 9 35658032 upstream gene variant -/CAGAGTAGTA delins 0.700 1.000 4 2001 2007
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