Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2589113
rs2589113
2 55289187 3 prime UTR variant T/G snv 0.83
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2011 2011
dbSNP: rs2589113
rs2589113
2 55289187 3 prime UTR variant T/G snv 0.83
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2011 2011
dbSNP: rs66728407
rs66728407
2 55293903 3 prime UTR variant A/G snv 7.2E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs879255649
rs879255649
1.000 0.080 2 55334506 frameshift variant A/- delins
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome
Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016