Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1046089
rs1046089
PRRC2A
0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 2 2012 2013
dbSNP: rs2260000
rs2260000
PRRC2A
0.851 0.200 6 31625699 intron variant A/G snv 0.29
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs2261033
rs2261033
PRRC2A
0.925 0.160 6 31635814 non coding transcript exon variant A/G snv 0.42
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs3115663
rs3115663
PRRC2A ; MIR6832
0.827 0.360 6 31634066 non coding transcript exon variant T/C snv 0.17
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 3 2007 2011
dbSNP: rs11229
rs11229
PRRC2A
0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 2 2007 2009
dbSNP: rs1046080
rs1046080
PRRC2A
1.000 0.120 6 31628105 missense variant C/A snv 0.79 0.74
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2011 2011
dbSNP: rs1046080
rs1046080
PRRC2A
1.000 0.120 6 31628105 missense variant C/A snv 0.79 0.74
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.700 1.000 1 2019 2019
dbSNP: rs1046089
rs1046089
PRRC2A
0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.700 1.000 1 2013 2013
dbSNP: rs1046089
rs1046089
PRRC2A
0.882 0.200 6 31635190 missense variant G/A snv 0.36 0.40
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2014 2014
dbSNP: rs10885
rs10885
PRRC2A
6 31636814 missense variant C/T snv 0.14 0.17
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
PRRC2A
0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
PRRC2A
0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.700 1.000 1 2013 2013
dbSNP: rs11229
rs11229
PRRC2A
0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2014 2014
dbSNP: rs11229
rs11229
PRRC2A
0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs11229
rs11229
PRRC2A
0.851 0.280 6 31635993 synonymous variant A/G snv 0.14 0.17
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 1.000 1 2012 2012
dbSNP: rs115052633
rs115052633
PRRC2A ; SNORA38
1.000 0.040 6 31621487 intron variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs115052633
rs115052633
PRRC2A ; SNORA38
1.000 0.040 6 31621487 intron variant C/G;T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs140054334
rs140054334
PRRC2A
6 31619265 upstream gene variant C/T snv 4.6E-02
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2242660
rs2242660
PRRC2A
0.925 0.160 6 31629976 intron variant G/A snv 0.46
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2014 2014
dbSNP: rs2242660
rs2242660
PRRC2A
0.925 0.160 6 31629976 intron variant G/A snv 0.46
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.700 1.000 1 2013 2013
dbSNP: rs2260000
rs2260000
PRRC2A
0.851 0.200 6 31625699 intron variant A/G snv 0.29
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2010 2010
dbSNP: rs2260000
rs2260000
PRRC2A
0.851 0.200 6 31625699 intron variant A/G snv 0.29
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs2260000
rs2260000
PRRC2A
0.851 0.200 6 31625699 intron variant A/G snv 0.29
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2010 2010
dbSNP: rs2260000
rs2260000
PRRC2A
0.851 0.200 6 31625699 intron variant A/G snv 0.29
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2010 2010
dbSNP: rs2260000
rs2260000
PRRC2A
0.851 0.200 6 31625699 intron variant A/G snv 0.29
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007