rs1057519076, KCNN4

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.
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
CUI: C4225242
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
3 0.925 0.200 19 43769805 missense variant C/A;T snv 0.800 0
Dehydration
CUI: C0011175
Disease: Dehydration
6 0.925 0.200 19 43769805 missense variant C/A;T snv 0.010 1.000 1 2019 2019
Xerocytosis
CUI: C0272051
Disease: Xerocytosis
3 0.925 0.200 19 43769805 missense variant C/A;T snv 0.010 1.000 1 2019 2019