Source: CLINVAR

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: rs121918499
rs121918499
FGFR2
0.925 0.160 10 121520048 missense variant C/A;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.840 1.000 0 1995 2019
dbSNP: rs121918499
rs121918499
FGFR2
0.925 0.160 10 121520048 missense variant C/A;G snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2013 2013