rs587779383, FGFR3

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acanthosis Nigricans
CUI: C0000889
Disease: Acanthosis Nigricans
11 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 2007 2007
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.700 1.000 1 1998 1998
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.020 1.000 2 2000 2016
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
9 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.010 1.000 1 2000 2000
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.851 0.120 4 1806157 missense variant A/C;G;T snv 0.010 1.000 1 2000 2000