Disease: KEPPEN-LUBINSKY SYNDROME ×
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: rs786204795
rs786204795 		1.000 21 37714697 missense variant C/T snv
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.800 1.000 1 2015 2015
dbSNP: rs1556023562
rs1556023562 		1.000 21 37714645 missense variant A/C snv
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.700 0
dbSNP: rs786204794
rs786204794 		1.000 21 37714700 inframe deletion GGT/- delins
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.700 0