rs28942077, LYST

N. diseases: 2
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.
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
14 1.000 0.160 1 235766204 missense variant A/G;T snv 4.0E-06 0.800 1.000 2 2002 2014
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
CUI: C4016993
Disease: CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
3 1.000 0.160 1 235766204 missense variant A/G;T snv 4.0E-06 0.700 0