RHAG, Rh associated glycoprotein, 6005

N. diseases: 41; N. variants: 13
Disease: Rh-Null, Regulator Type ×
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: 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: 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