Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940315
rs28940315
GPHN ; RDH12
0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 5 2004 2015
dbSNP: rs397518420
rs397518420
GPHN ; LOC105370538
1.000 0.080 14 67159416 missense variant A/C snv
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		0.800 1.000 3 2001 2015
dbSNP: rs104894472
rs104894472
GPHN ; RDH12
1.000 0.040 14 67727055 missense variant T/C snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 2 2004 2004
dbSNP: rs104894473
rs104894473
GPHN ; RDH12
1.000 0.040 14 67724556 missense variant T/A;C snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 2 2004 2004
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
0.925 0.080 14 67726983 missense variant C/A;G snv 8.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 2 2004 2004
dbSNP: rs104894476
rs104894476
GPHN ; ZFYVE26 ; RDH12
1.000 0.040 14 67729220 missense variant C/G snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 2 2004 2004
dbSNP: rs28940313
rs28940313
GPHN ; ZFYVE26 ; RDH12
1.000 0.040 14 67729209 splice donor variant A/G snv 7.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 2 2004 2004
dbSNP: rs28940314
rs28940314
GPHN ; RDH12
0.925 0.080 14 67724550 missense variant C/A;T snv 8.0E-06; 1.6E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.800 1.000 2 2004 2004
dbSNP: rs776038451
rs776038451
PIGH ; GPHN
1.000 14 67593826 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C4747891
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 		0.800 1.000 2 2018 2018
dbSNP: rs1077989
rs1077989
GPHN ; TMEM229B
1.000 0.080 14 67509105 intron variant A/C snv 0.39
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.800 1.000 1 2012 2012
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.700 1.000 5 2005 2015
dbSNP: rs104894471
rs104894471
GPHN ; RDH12
1.000 0.040 14 67724588 stop gained C/T snv 5.6E-05 7.0E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.700 1.000 4 2004 2017
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
0.882 0.080 14 67726086 stop gained G/T snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.700 1.000 3 2004 2016
dbSNP: rs368489658
rs368489658
GPHN ; RDH12
1.000 0.040 14 67725137 missense variant G/A;C;T snv 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.700 1.000 3 2009 2015
dbSNP: rs1239043055
rs1239043055
GPHN ; ZFYVE26 ; RDH12
0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		0.700 1.000 2 2005 2014
dbSNP: rs1555399
rs1555399
GPHN ; TMEM229B
1.000 0.040 14 67517653 intron variant T/A snv 0.41
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.700 1.000 2 2014 2017
dbSNP: rs1004000
rs1004000
GPHN
1.000 0.040 14 67430386 intergenic variant T/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs10146483
rs10146483
GPHN
1.000 0.040 14 67430954 intergenic variant A/G snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
0.882 0.080 14 67726086 stop gained G/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
0.925 0.080 14 67726983 missense variant C/A;G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1077989
rs1077989
GPHN ; TMEM229B
1.000 0.080 14 67509105 intron variant A/C snv 0.39
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.700 1.000 1 2018 2018
dbSNP: rs1077989
rs1077989
GPHN ; TMEM229B
1.000 0.080 14 67509105 intron variant A/C snv 0.39
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.700 1.000 1 2018 2018
dbSNP: rs113330417
rs113330417
GPHN
1.000 0.040 14 66782703 intron variant A/G snv 1.6E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 1.000 1 2019 2019
dbSNP: rs113330417
rs113330417
GPHN
1.000 0.040 14 66782703 intron variant A/G snv 1.6E-02
CUI: C0038663
Disease: Suicide attempt
Suicide attempt 		0.700 1.000 1 2019 2019
dbSNP: rs17103572
rs17103572
GPHN
0.925 0.040 14 66519254 intron variant G/A snv 1.9E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018