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: rs121913101
rs121913101
FGFR3
0.882 0.080 4 1807260 stop lost T/A;C;G snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.720 1.000 2 2017 2019
dbSNP: rs121913101
rs121913101
FGFR3
0.882 0.080 4 1807260 stop lost T/A;C;G snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.700 0
dbSNP: rs121913101
rs121913101
FGFR3
0.882 0.080 4 1807260 stop lost T/A;C;G snv
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		0.010 1.000 1 2017 2017