rs267606808, FGFR3

N. diseases: 3
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 0.882 0.120 4 1805396 missense variant A/G snv 0.010 1.000 1 2009 2009
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
10 0.882 0.120 4 1805396 missense variant A/G snv 0.010 1.000 1 2009 2009
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.882 0.120 4 1805396 missense variant A/G snv 0.010 1.000 1 2009 2009