SERPINB8, serpin family B member 8, 5271

N. diseases: 10; N. variants: 4
Disease: PEELING SKIN SYNDROME 5 ×
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: rs144666367
rs144666367 		1.000 18 63987003 stop gained C/T snv 6.1E-04 3.6E-04
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.700 0
dbSNP: rs374612640
rs374612640 		1.000 18 63978310 start lost T/C snv 2.8E-05 1.4E-05
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.700 0
dbSNP: rs762923677
rs762923677 		1.000 18 63987099 frameshift variant A/- delins 9.1E-05 3.5E-04
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.700 0