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: rs386834051
rs386834051
LPO ; MKS1 ; LOC105371841
3 0.882 0.320 17 58219175 frameshift variant -/CCCGG delins 6.6E-06 0.700 1.000 1 2006 2006