rs368166434, TRPS1

N. diseases: 4
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.
Trichorhinophalangeal dysplasia type I
CUI: C0432233
Disease: Trichorhinophalangeal dysplasia type I
43 0.851 0.200 8 115603883 stop gained G/A;C snv 0.700 0
Trichorhinophalangeal Syndrome, Type III
CUI: C1860823
Disease: Trichorhinophalangeal Syndrome, Type III
14 0.851 0.200 8 115603883 stop gained G/A;C snv 0.700 0
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.851 0.200 8 115603883 stop gained G/A;C snv 0.010 1.000 1 2015 2015
Trichorhinophalangeal syndrome
CUI: C0265255
Disease: Trichorhinophalangeal syndrome
1 0.851 0.200 8 115603883 stop gained G/A;C snv 0.010 1.000 1 2018 2018