RHCE, Rh blood group CcEe antigens, 6006

N. diseases: 44; N. variants: 10
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: rs586178
rs586178 		1 25420739 missense variant G/A;C snv 8.4E-05; 0.41
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs586178
rs586178 		1 25420739 missense variant G/A;C snv 8.4E-05; 0.41
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs61777615
rs61777615 		1 25405596 intron variant G/A snv 0.20
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2017
dbSNP: rs61777615
rs61777615 		1 25405596 intron variant G/A snv 0.20
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2017
dbSNP: rs111941366
rs111941366 		1 25409878 intron variant C/T snv 0.30
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs111941366
rs111941366 		1 25409878 intron variant C/T snv 0.30
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs28513325
rs28513325 		1 25406057 intron variant G/A;T snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs28695210
rs28695210 		1 25422778 intron variant G/A snv 5.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3079633
rs3079633 		1 25386843 intron variant CACACACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACA delins 0.28
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs586178
rs586178 		1 25420739 missense variant G/A;C snv 8.4E-05; 0.41
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs586178
rs586178 		1 25420739 missense variant G/A;C snv 8.4E-05; 0.41
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs621189
rs621189 		1 25383919 intron variant A/T snv 1.00
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs873308
rs873308 		1 25432164 intron variant G/A snv 0.44
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1553156106
rs1553156106 		1.000 1 25385733 frameshift variant -/TGAAGCA delins
CUI: C4693796
Disease: RH-NULL, AMORPH TYPE
RH-NULL, AMORPH TYPE 		0.700 0
dbSNP: rs1232547491
rs1232547491 		0.851 0.120 1 25385838 missense variant A/G snv
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1232547491
rs1232547491 		0.851 0.120 1 25385838 missense variant A/G snv
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		0.010 1.000 1 2005 2005
dbSNP: rs1232547491
rs1232547491 		0.851 0.120 1 25385838 missense variant A/G snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1232547491
rs1232547491 		0.851 0.120 1 25385838 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2014 2014