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: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs752963712
rs752963712
PDE6C
3 0.882 0.160 10 93640953 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015