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: rs36215895
rs36215895
ESR2 ; SYNE2
1 1.000 14 64210033 missense variant C/G;T snv 4.0E-06; 4.8E-03 0.800 1.000 1 2007 2007
dbSNP: rs745516407
rs745516407
ESR2 ; SYNE2
1 1.000 14 64107608 splice donor variant G/A;T snv 4.0E-06 7.0E-06 0.700 0