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: rs387906678
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.800 1.000 0 2012 2012
dbSNP: rs387906678
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs387906678
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs387906678
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs387906678
rs387906678
FGFR2
0.851 0.120 10 121515263 missense variant A/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016