SMIM12, small integral membrane protein 12, 113444

N. diseases: 15; N. variants: 30
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 ×
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: rs80358206
rs80358206 		0.925 0.080 1 34761665 missense variant C/A;T snv 1.7E-04
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 0
dbSNP: rs80358210
rs80358210 		1.000 1 34761507 missense variant A/C snv
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 0
dbSNP: rs80358211
rs80358211 		0.925 0.080 1 34761289 missense variant G/A snv
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 0
dbSNP: rs80358212
rs80358212 		1.000 1 34761319 missense variant G/A;T snv 6.8E-05; 4.0E-06
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 0
dbSNP: rs80358213
rs80358213 		1.000 1 34761820 missense variant T/A snv
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 0
dbSNP: rs80358207
rs80358207 		0.925 0.080 1 34761663 missense variant T/C snv
CUI: C4479618
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.700 0