RHBDD2, rhomboid domain containing 2, 57414

N. diseases: 13; N. variants: 3
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: rs140948517
rs140948517 		7 75857462 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs140948517
rs140948517 		7 75857462 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs6969965
rs6969965 		7 75852294 intron variant T/A;C;G snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs6969965
rs6969965 		7 75852294 intron variant T/A;C;G snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs73359750
rs73359750 		7 75848924 intron variant C/T snv 0.14
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2018 2018