CSTA, cystatin A, 1475

N. diseases: 97; N. variants: 6
Disease: PEELING SKIN SYNDROME 4 ×
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: rs149474339
rs149474339 		1.000 3 122341442 stop gained C/T snv 7.6E-05 4.9E-05
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.710 1.000 1 2015 2015
dbSNP: rs387906689
rs387906689 		1.000 3 122341526 stop gained C/T snv
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.700 0
dbSNP: rs398122804
rs398122804 		1.000 3 122337545 splice acceptor variant A/T snv
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.700 0
dbSNP: rs747711488
rs747711488 		1.000 3 122325356 stop gained A/T snv 8.0E-06 2.1E-05
CUI: C4225407
Disease: PEELING SKIN SYNDROME 4
PEELING SKIN SYNDROME 4 		0.700 0