KLRG1, killer cell lectin like receptor G1, 10219

N. diseases: 43; N. variants: 14
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: rs11048434
rs11048434 		1.000 0.200 12 9001336 intron variant G/A snv 0.28
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1805248
rs1805248 		12 8948541 intron variant A/G snv 0.72
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1805755
rs1805755 		1.000 0.080 12 8949816 upstream gene variant A/C;G snv 1.7E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs2277413
rs2277413 		12 9165188 missense variant A/G snv 0.32 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6487668
rs6487668 		1.000 0.040 12 9200312 intron variant C/A snv 0.78
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs6487668
rs6487668 		1.000 0.040 12 9200312 intron variant C/A snv 0.78
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7311982
rs7311982 		12 9162261 intron variant T/C snv 0.66
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7968679
rs7968679 		1.000 0.040 12 9160708 intron variant A/C;G snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7980288
rs7980288 		0.925 0.040 12 9102864 intron variant T/C snv 1.4E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs7980288
rs7980288 		0.925 0.040 12 9102864 intron variant T/C snv 1.4E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs200477595
rs200477595 		1.000 0.080 12 9157342 missense variant C/A;G;T snv 1.2E-05; 3.6E-05; 3.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs669
rs669 		0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
ALZHEIMER DISEASE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs669
rs669 		0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.070 0.714 7 1999 2014
dbSNP: rs117889746
rs117889746 		12 9181030 stop gained G/A snv 6.6E-03 2.1E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs117889746
rs117889746 		12 9181030 stop gained G/A snv 6.6E-03 2.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs145240281
rs145240281 		0.925 0.080 12 9168938 stop gained G/A snv 4.3E-03 3.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs145240281
rs145240281 		0.925 0.080 12 9168938 stop gained G/A snv 4.3E-03 3.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1805672
rs1805672 		1.000 0.080 12 9010581 3 prime UTR variant A/G snv 0.23
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3832852
rs3832852 		0.925 0.080 12 9093581 splice acceptor variant ATGGT/- delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs3832852
rs3832852 		0.925 0.080 12 9093581 splice acceptor variant ATGGT/- delins
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs669
rs669 		0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0338460
Disease: Argyrophilic grain disease
Argyrophilic grain disease 		0.010 1.000 1 2002 2002
dbSNP: rs669
rs669 		0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2000 2000
dbSNP: rs669
rs669 		0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs669
rs669 		0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs669
rs669 		0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2000 2000