RDH5, retinol dehydrogenase 5, 5959

N. diseases: 49; N. variants: 21
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE ×
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: rs104894373
rs104894373 		0.851 0.080 12 55721908 missense variant T/G snv 8.1E-06
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs104894374
rs104894374 		0.925 0.040 12 55721847 missense variant C/A;T snv 4.0E-06; 4.4E-05
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs111033593
rs111033593 		0.925 0.040 12 55724468 missense variant G/C snv 8.0E-06 7.0E-06
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs267607006
rs267607006 		1.000 12 55724516 protein altering variant C/GAAG delins
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs62638185
rs62638185 		0.925 0.040 12 55721402 missense variant C/T snv 4.0E-06
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs62638191
rs62638191 		0.925 0.040 12 55724028 missense variant G/A;C;T snv 4.1E-06; 2.2E-04
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs62638193
rs62638193 		0.925 0.040 12 55724427 missense variant G/A;T snv 8.4E-05
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs62638194
rs62638194 		0.925 0.040 12 55724429 missense variant T/C;G snv
CUI: C4016746
Disease: FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE 		0.700 0