Source: UNIPROT

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: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.820 1.000 13 1994 2015
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.810 1.000 16 1994 2012
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.800 1.000 5 1994 1998
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.800 1.000 1 2000 2000