Source: CLINVAR

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: 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 0 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 0 2004 2004
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: 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: rs752283089
rs752283089
ZFYVE26
14 67783217 stop gained G/T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 2 2013 2015
dbSNP: rs767164213
rs767164213
ZFYVE26
0.925 0.160 14 67786112 splice donor variant A/C snv 1.6E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 2 2008 2009
dbSNP: rs769329153
rs769329153
ZFYVE26
0.925 0.160 14 67809291 splice acceptor variant T/C snv 5.2E-05 2.1E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 2 2008 2009
dbSNP: rs774809466
rs774809466
ZFYVE26
0.925 0.160 14 67783020 stop gained G/A;T snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 2 2014 2016
dbSNP: rs869312914
rs869312914
ZFYVE26
1.000 0.120 14 67752520 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 2 2013 2015
dbSNP: rs981804211
rs981804211
ZFYVE26
1.000 0.120 14 67798080 stop gained G/A;T snv 7.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 2 2009 2015
dbSNP: rs1049504575
rs1049504575
ZFYVE26
1.000 0.120 14 67754069 splice donor variant A/T snv 4.0E-06 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2009 2009
dbSNP: rs1057518016
rs1057518016
ZFYVE26
1.000 0.120 14 67797750 stop gained G/A snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2014 2014
dbSNP: rs118204049
rs118204049
ZFYVE26
1.000 0.120 14 67782840 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2008 2008
dbSNP: rs1214483973
rs1214483973
ZFYVE26
1.000 0.120 14 67775866 stop gained G/A snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2013 2013
dbSNP: rs1555394376
rs1555394376
ZFYVE26
1.000 0.080 14 67762275 frameshift variant -/A delins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.700 1.000 1 2017 2017
dbSNP: rs200832994
rs200832994
ZFYVE26
0.925 0.160 14 67807692 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2009 2009
dbSNP: rs370828455
rs370828455
ZFYVE26
0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 1981 1981
dbSNP: rs370828455
rs370828455
ZFYVE26
0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2016 2016
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2004 2004
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2004 2004
dbSNP: rs558285072
rs558285072
ZFYVE26
0.925 0.160 14 67777729 stop gained G/A;C snv 2.4E-05; 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2016 2016
dbSNP: rs558285072
rs558285072
ZFYVE26
0.925 0.160 14 67777729 stop gained G/A;C snv 2.4E-05; 4.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 1.000 1 2016 2016
dbSNP: rs768176054
rs768176054
ZFYVE26
1.000 0.120 14 67793711 frameshift variant A/- delins 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2015 2015
dbSNP: rs941230062
rs941230062
ZFYVE26
1.000 0.120 14 67794234 stop gained G/A;C snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 1.000 1 2015 2015
dbSNP: rs118204050
rs118204050
ZFYVE26
1.000 0.120 14 67802241 stop gained G/A snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		0.700 0