SLC24A1, solute carrier family 24 member 1, 9187

N. diseases: 28; N. variants: 13
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: rs3743171
rs3743171 		15 65624189 missense variant A/T snv 0.26 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4366668
rs4366668 		15 65611060 synonymous variant G/A;C snv 0.51
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6494529
rs6494529 		15 65610584 intron variant G/A snv 0.57
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7178686
rs7178686 		15 65618890 5 prime UTR variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs76702386
rs76702386 		15 65620544 intron variant T/C snv 6.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs8035639
rs8035639 		15 65652210 non coding transcript exon variant C/T snv 0.57
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs870022
rs870022 		15 65622420 intron variant C/T snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1410075831
rs1410075831 		1.000 15 65650550 stop gained G/T snv 6.4E-06
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.700 0
dbSNP: rs1555403793
rs1555403793 		1.000 15 65625769 inframe deletion TCT/- delins
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.700 0
dbSNP: rs1555407654
rs1555407654 		1.000 15 65652726 missense variant A/C snv
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.700 0
dbSNP: rs1566945534
rs1566945534 		1.000 0.080 15 65624175 stop gained T/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs766780281
rs766780281 		1.000 15 65654069 frameshift variant ATCT/- delins
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.700 0
dbSNP: rs777989874
rs777989874 		0.925 0.080 15 65624834 frameshift variant AT/- del 1.0E-04 1.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs777989874
rs777989874 		0.925 0.080 15 65624834 frameshift variant AT/- del 1.0E-04 1.5E-04
CUI: C3151193
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 		0.700 0