RPTN, repetin, 126638

N. diseases: 8; N. variants: 2
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: rs28441202
rs28441202
0.925 0.120 1 152156387 missense variant A/G snv
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3001978
rs3001978
0.882 0.160 1 152153991 3 prime UTR variant T/C snv 0.50
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017