SMIM12, small integral membrane protein 12, 113444

N. diseases: 15; N. variants: 30
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: rs74315315
rs74315315 		0.925 0.080 1 34784796 missense variant G/A;C snv 3.2E-05
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315316
rs74315316 		0.925 0.080 1 34784797 missense variant G/A snv
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315317
rs74315317 		1.000 0.080 1 34785018 missense variant T/A;C snv 4.0E-06
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315321
rs74315321 		0.882 0.080 1 34784887 missense variant G/A;C snv 1.2E-05
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 1998 2000
dbSNP: rs74315318
rs74315318 		0.925 0.200 1 34785309 missense variant G/A snv 6.4E-04 1.8E-04
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 1998 1998
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: rs2359644
rs2359644 		1 34781052 intron variant T/C snv 0.42
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2019 2019
dbSNP: rs626096
rs626096 		1.000 1 34749623 intron variant C/T snv 6.4E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs626096
rs626096 		1.000 1 34749623 intron variant C/T snv 6.4E-02
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs626096
rs626096 		1.000 1 34749623 intron variant C/T snv 6.4E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs626096
rs626096 		1.000 1 34749623 intron variant C/T snv 6.4E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs626096
rs626096 		1.000 1 34749623 intron variant C/T snv 6.4E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
dbSNP: rs74315320
rs74315320 		0.925 0.120 1 34785183 missense variant A/G snv
CUI: C2675236
Disease: Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 2B 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 1998 1998
dbSNP: rs121908851
rs121908851 		1.000 0.120 1 34785259 missense variant A/G;T snv 8.0E-06; 4.0E-06
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs144964568
rs144964568 		1.000 0.120 1 34785465 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs148182439
rs148182439 		1.000 0.080 1 34761640 stop gained G/A snv 2.3E-04 9.1E-05
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1557659237
rs1557659237 		1.000 0.120 1 34784770 stop gained G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1557659237
rs1557659237 		1.000 0.120 1 34784770 stop gained G/A snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs28937583
rs28937583 		0.925 0.080 1 34784863 missense variant T/C snv
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs74315320
rs74315320 		0.925 0.120 1 34785183 missense variant A/G snv
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs770247378
rs770247378 		1.000 0.120 1 34785183 inframe deletion ATT/- del
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0