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: rs886037837
rs886037837
FGFR2
1.000 0.080 10 121520037 inframe deletion CGTGCTTGATCCACTGGA/- delins
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 0
dbSNP: rs121918501
rs121918501
FGFR2
0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.020 1.000 2 2006 2014
dbSNP: rs374608214
rs374608214
FGFR2
0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.010 1.000 1 2004 2004