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: rs587779383
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.700 1.000 1 1998 1998
dbSNP: rs587779383
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.700 1.000 1 2007 2007
dbSNP: rs587779383
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.020 1.000 2 2000 2016
dbSNP: rs587779383
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.010 1.000 1 2000 2000
dbSNP: rs587779383
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.010 1.000 1 2000 2000