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: rs2451078
rs2451078
TPTE2
1 1.000 0.040 13 19524149 intron variant G/C snv 0.93 0.700 1.000 1 2011 2011