rs1211533350, 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.
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.070 1.000 7 1998 2018
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.030 1.000 3 1998 2004
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
10 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009