HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Disease: ERYTHROCYTOSIS, FAMILIAL, 7 ×
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: rs33935328
rs33935328 		1.000 16 177407 missense variant G/A;C;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33978134
rs33978134 		1.000 16 176967 missense variant C/G;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33986902
rs33986902 		1.000 16 176736 missense variant A/C;G;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33991779
rs33991779 		1.000 16 177111 missense variant G/A;C;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs33991910
rs33991910 		1.000 16 177406 missense variant C/A;G;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs35239527
rs35239527 		1.000 16 177098 missense variant G/T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs35723200
rs35723200 		1.000 16 177403 missense variant T/C snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0
dbSNP: rs63750950
rs63750950 		1.000 16 177361 missense variant G/A;C;T snv
CUI: C4693823
Disease: ERYTHROCYTOSIS, FAMILIAL, 7
ERYTHROCYTOSIS, FAMILIAL, 7 		0.700 0