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: rs397514488
rs397514488
POC1A
1 1.000 0.160 3 52147039 missense variant A/G snv 0.800 1.000 2 2012 2012
dbSNP: rs397514487
rs397514487
POC1A
3 0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs918352190
rs918352190
POC1A
1 1.000 0.160 3 52151055 missense variant C/A;G snv 0.700 0