Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3135718
rs3135718
FGFR2
0.882 0.160 10 121594355 intron variant C/T snv 0.54
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.010 < 0.001 1 2019 2019