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: rs267606808
rs267606808
FGFR3
0.882 0.120 4 1805396 missense variant A/G snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.010 1.000 1 2009 2009
dbSNP: rs267606808
rs267606808
FGFR3
0.882 0.120 4 1805396 missense variant A/G snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.010 1.000 1 2009 2009
dbSNP: rs267606808
rs267606808
FGFR3
0.882 0.120 4 1805396 missense variant A/G snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.010 1.000 1 2009 2009