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: rs1554651469
rs1554651469
RMRP ; CCDC107
2 0.925 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGT delins 0.700 0
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 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 0