Source: CURATED

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: rs121918491
rs121918491
FGFR2
0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.700 0