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: 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: 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: rs878854358
rs878854358
EBP
2 0.925 0.160 X 48523804 stop gained C/A snv 0.010 1.000 1 2012 2012
dbSNP: rs878853178
rs878853178
RMRP ; CCDC107
1 1.000 0.160 9 35658015 non coding transcript exon variant -/CACGTCCTCAGCTTCAC delins 0.700 0
dbSNP: rs786204684
rs786204684
RMRP ; CCDC107
4 0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05 0.700 1.000 5 2002 2007
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: rs772443941
rs772443941
RMRP ; CCDC107
1 1.000 0.160 9 35658014 non coding transcript exon variant G/A snv 1.1E-04 9.8E-05 0.700 1.000 9 2002 2015
dbSNP: rs763804728
rs763804728
WLS ; GNG12-AS1
1 1.000 0.160 1 68194209 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs759665242
rs759665242
RMRP ; CCDC107
1 1.000 0.160 9 35658015 non coding transcript exon variant -/CACCACGTCC delins 1.6E-05; 1.6E-05; 7.8E-06 1.4E-05 0.700 1.000 4 2001 2007
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: 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: 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: 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: rs727502777
rs727502777
RMRP ; CCDC107
1 1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGTA delins 0.700 1.000 1 2011 2011
dbSNP: rs727502776
rs727502776
RMRP ; CCDC107
2 0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAGT;GCTTCACAGAGTAGTGCTTCACAGAGTAGT delins 2.7E-04 0.700 1.000 9 2001 2015
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: rs551450545
rs551450545
RMRP ; CCDC107
2 0.925 0.200 9 35657776 non coding transcript exon variant T/C;G snv 1.2E-04 9.8E-05 0.700 1.000 9 2002 2016
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: 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: rs1563908212
rs1563908212
RMRP ; CCDC107
1 1.000 0.160 9 35658032 upstream gene variant -/ACAGAGTA delins 0.700 0
dbSNP: rs1563907946
rs1563907946
RMRP ; CCDC107
2 0.925 0.200 9 35658023 upstream gene variant -/TCAGCTTC delins 0.700 0
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: rs1563907881
rs1563907881
RMRP ; CCDC107
1 1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCACAGAGT delins 0.700 0
dbSNP: rs1554651544
rs1554651544
RMRP ; CCDC107
1 1.000 0.160 9 35658035 upstream gene variant -/GAAGCTGAGTAGTA delins 0.700 1.000 3 2001 2007