rs1035549573, HLCS

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.
Chondrosarcoma
CUI: C0008479
Disease: Chondrosarcoma
8 0.882 0.120 21 36767227 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
10 0.882 0.120 21 36767227 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.882 0.120 21 36767227 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013