HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL ×
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: rs121909803
rs121909803 		1.000 16 172913 start lost A/G snv
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs41341344
rs41341344 		0.925 0.080 16 173001 missense variant T/C snv
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs41412046
rs41412046 		1.000 16 173600 stop lost A/T snv 8.0E-06
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs41417548
rs41417548 		1.000 16 173485 missense variant G/A;T snv 2.0E-05; 8.1E-06
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs41464951
rs41464951 		0.925 0.080 16 173598 stop lost T/A;C;G snv 5.6E-05
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs587776827
rs587776827 		1.000 16 173471 splice acceptor variant G/A snv
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs63750067
rs63750067 		0.925 16 173692 3 prime UTR variant A/G snv 3.6E-05
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0
dbSNP: rs63750678
rs63750678 		1.000 16 172914 frameshift variant T/- del
CUI: C3279561
Disease: HEMOGLOBIN H DISEASE, NONDELETIONAL
HEMOGLOBIN H DISEASE, NONDELETIONAL 		0.700 0