IthaGenes

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Showing all entries involving gene OR51B5 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1549	Dutch IV	N/A	NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del	ε, OR51B6, OR51B5, Gγ, Aγ, βLCR	Causative	εγδβ-thalassaemia	NG_000007.3
3606	177 Kb deletion	N/A	NC_000011.10:g.5241050_5418009del	βLCR, ε, Aγ, Gγ, pseudo β, OR51B5, OR51B6, OR51M1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3
1550	Dutch V	N/A	NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del	OR51B4, OR51B2, OR51M1, OR51B6, OR51B5, βLCR	Causative	εγδβ-thalassaemia	NG_000007.3
3828	rs449937	N/A	NC_000011.10:g.5469115G>A	OR51B5	Modifier	Severity	NG_000007.3
1547	Dutch II	N/A	NC_000011.10:g.(?_4999945)_(5409809_5430440)del	ε, βLCR, Aγ, Gγ, δ, β, OR51M1, OR51B5, OR51V1, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3830	rs446541	N/A	NC_000011.10:g.5471070A>T	OR51B5	Modifier	Severity	N/A
2835	rs10500635	N/A	NC_000011.10:g.5365438G>A	OR51B5	Modifier	Hb F levels	N/A
3829	rs366257	N/A	NC_000011.10:g.5469313C>T	OR51B5	Modifier	Severity	N/A
2796	rs1391619	N/A	NC_000011.10:g.5434699G>A	OR51B5	Modifier	Hb F levels	N/A
2878	rs2647579	N/A	NC_000011.10:g.5419057A>G	OR51B5	Modifier	Hb F levels	N/A
2877	rs2340653	N/A	NC_000011.10:g.5430531G>A	OR51B5	Modifier	Hb F levels	N/A
2868	rs11037191	N/A	NC_000011.10:g.5390842A>G	OR51B5	Modifier	Hb F levels	N/A
2836	rs416586	N/A	NC_000011.10:g.5472327A>G	OR51B5	Modifier	Hb F levels	N/A
3542	rs7948471	N/A	NC_000011.10:g.5450516G>A	OR51B5	Modifier	Haemolytic anaemia	N/A	0
3541	rs7938426	N/A	NC_000011.10:g.5450602A>G	OR51B5	Modifier	Haemolytic anaemia	N/A	0

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