rs587779351, XRCC4

N. diseases: 6
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.
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
9 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.800 1.000 4 2014 2015
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.700 1.000 1 2014 2014
Normal motor development
CUI: C1851057
Disease: Normal motor development
1 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.700 1.000 1 2014 2014
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
9 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.700 1.000 1 2014 2014
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.700 1.000 1 2014 2014
Speech Delay
CUI: C0241210
Disease: Speech Delay
11 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.700 1.000 1 2014 2014