MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
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: rs7642536
rs7642536 		0.807 0.080 3 139313491 intron variant T/C snv 0.12
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 2 2016 2017
dbSNP: rs7638110
rs7638110 		1.000 0.080 3 139185143 intron variant G/T snv 9.4E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2012 2012
dbSNP: rs753345594
rs753345594 		0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C4748263
Disease: OVARIAN DYSGENESIS 7
OVARIAN DYSGENESIS 7 		0.800 0
dbSNP: rs774237195
rs774237195 		1.000 3 139348224 missense variant G/A;T snv 4.0E-06 7.0E-06
CUI: C4748263
Disease: OVARIAN DYSGENESIS 7
OVARIAN DYSGENESIS 7 		0.700 0
dbSNP: rs140701484
rs140701484 		3 139171721 intron variant G/A;C snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs140701484
rs140701484 		3 139171721 intron variant G/A;C snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs753345594
rs753345594 		0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs753345594
rs753345594 		0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs119478059
rs119478059 		1.000 0.080 3 139350183 missense variant G/A snv 8.4E-05 1.3E-04
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs387906924
rs387906924 		1.000 0.080 3 139350318 missense variant T/C snv
CUI: C2673642
Disease: Combined Oxidative Phosphorylation Deficiency 5
Combined Oxidative Phosphorylation Deficiency 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs753345594
rs753345594 		0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs112071820
rs112071820 		1.000 0.040 3 139130268 intron variant -/GATTCAGAATCCA delins 0.30
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs201337850
rs201337850 		3 139348309 stop gained T/G snv 4.0E-06 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2007 2017
dbSNP: rs17315501
rs17315501 		3 139310834 intron variant G/A snv 9.2E-03
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs201337850
rs201337850 		3 139348309 stop gained T/G snv 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2007 2017
dbSNP: rs7638110
rs7638110 		1.000 0.080 3 139185143 intron variant G/T snv 9.4E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs7642536
rs7642536 		0.807 0.080 3 139313491 intron variant T/C snv 0.12
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs7642536
rs7642536 		0.807 0.080 3 139313491 intron variant T/C snv 0.12
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs7642536
rs7642536 		0.807 0.080 3 139313491 intron variant T/C snv 0.12
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs7642536
rs7642536 		0.807 0.080 3 139313491 intron variant T/C snv 0.12
CUI: C0029489
Disease: Other alopecia
Other alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs7642536
rs7642536 		0.807 0.080 3 139313491 intron variant T/C snv 0.12
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs6802174
rs6802174 		1.000 0.080 3 139287822 intron variant C/G snv 0.20
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7642536
rs7642536 		0.807 0.080 3 139313491 intron variant T/C snv 0.12
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs77438261
rs77438261 		1.000 0.080 3 139279109 intron variant A/G snv 0.24
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs940187
rs940187 		1.000 0.080 3 139122751 intron variant T/C snv 0.70
CUI: C0022548
Disease: Keloid
Keloid 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013