Source: CURATED ×
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: rs17018311
rs17018311
INTS7
2 1.000 0.040 1 211981666 intron variant T/C snv 2.7E-02 0.800 1.000 1 2012 2012