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: rs781730798
rs781730798
RMRP ; CCDC107
2 0.925 0.200 9 35658029 upstream gene variant -/TTCACAGAGTAGT delins 0.700 1.000 5 2001 2008