RHAG, Rh associated glycoprotein, 6005

N. diseases: 41; N. variants: 13
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: rs863225468
rs863225468 		1.000 0.120 6 49619326 missense variant A/G snv
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.810 1.000 3 2009 2012
dbSNP: rs863225469
rs863225469 		0.925 0.120 6 49619338 missense variant A/C snv
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.810 1.000 3 2009 2012
dbSNP: rs121918587
rs121918587 		1.000 0.040 6 49612506 missense variant C/T snv 4.0E-06
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.800 1.000 4 1996 1999
dbSNP: rs121918589
rs121918589 		1.000 0.040 6 49606921 missense variant C/A;T snv 4.0E-06
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.800 1.000 4 1996 1999
dbSNP: rs104893987
rs104893987 		1.000 0.040 6 49612504 missense variant C/T snv
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.700 1.000 4 1996 1999
dbSNP: rs121918586
rs121918586 		1.000 0.040 6 49619284 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.700 1.000 4 1996 1999
dbSNP: rs9357627
rs9357627 		6 49622060 intron variant T/C snv 0.27
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1554174425
rs1554174425 		0.925 0.160 6 49618113 missense variant A/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1554174425
rs1554174425 		0.925 0.160 6 49618113 missense variant A/C snv
CUI: C0022346
Disease: Icterus
Icterus 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554174425
rs1554174425 		0.925 0.160 6 49618113 missense variant A/C snv
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554174425
rs1554174425 		0.925 0.160 6 49618113 missense variant A/C snv
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554174425
rs1554174425 		0.925 0.160 6 49618113 missense variant A/C snv
CUI: C0241231
Disease: splenomegaly massive
splenomegaly massive 		0.700 0
dbSNP: rs1554174425
rs1554174425 		0.925 0.160 6 49618113 missense variant A/C snv
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1562011389
rs1562011389 		1.000 0.040 6 49607202 frameshift variant T/- del
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1562012617
rs1562012617 		1.000 0.040 6 49611023 splice donor variant C/T snv
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1562012697
rs1562012697 		1.000 0.040 6 49611146 splice acceptor variant C/T snv
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs375508949
rs375508949 		1.000 0.040 6 49636655 splice donor variant C/T snv 2.8E-05 4.2E-05
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906519
rs387906519 		1.000 0.040 6 49636656 frameshift variant GAGG/TC delins
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs863225469
rs863225469 		0.925 0.120 6 49619338 missense variant A/C snv
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012