SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2065342420 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065342571 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065345592 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065346374 COX5A Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 20
RS2065346614 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065348171 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065361594 KCNMA1 Health Risk Pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2065361731 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065362194 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2065374158 RORA Health Risk Likely pathogenic —
RS2065377688 CASK Health Risk Pathogenic CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia, CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia
RS2065377881 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2065379291 CASK Health Risk Pathogenic —
RS2065388358 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2065449114 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS2065449579 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS2065470015 PRICKLE3 Health Risk risk factor Leber optic atrophy, Leber optic atrophy
RS2065471243 RORA;RORA-AS1 Health Risk Likely pathogenic —
RS2065474809 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2065508523 DAGLA Health Risk Likely pathogenic —
RS2065508863 SYP Health Risk Likely pathogenic Intellectual disability, X-linked 96
RS2065509989 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2065521315 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2065521862 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2065589645 CACNA1F Health Risk Pathogenic —
RS2065590491 PHF8 Health Risk Pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS2065635815 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2065638761 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2065644808 CACNA1F Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2065653850 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065655753 CACNA1F Health Risk Pathogenic Aland island eye disease, Aland island eye disease
RS2065655815 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2065656979 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065657421 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2065657742 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065657938 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2065661430 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2065661533 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2065662435 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2065663700 CACNA1F Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2065670611 CACNA1F Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2065688398 CNNM2 Health Risk Likely pathogenic Hypomagnesemia, seizures
RS2065701414 CACNA1F Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2065717075 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2065717116 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2065717735 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Retinal dystrophy
RS2065717955 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2065717991 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2065718031 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2065728187 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2065731800 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2065731921 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2065735740 BBS4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2065740868 CACNA1F Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2065741660 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS2065742650 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2065753439 CACNA1F Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2065755060 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2065755770 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2065757552 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2065761154 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2065771024 TBC1D24 Health Risk Pathogenic Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65
RS2065771781 TBC1D24 Health Risk Pathogenic —
RS2065783220 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS2065786997 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65
RS2065788445 TBC1D24 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 16
RS2065788651 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2065791450 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2065791967 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065792758 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065792798 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065792921 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065794400 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065795260 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065795669 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2065795756 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2065808409 CACNA1F Health Risk Pathogenic —
RS2065808928 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2065825161 ANK2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2065829595 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2065831369 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2065831600 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2065832124 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2065832850 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2065833366 CACNA1F Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2065833777 CACNA1F Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2065841382 CACNA1F Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS2065843670 CACNA1F Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2065845144 CACNA1F Health Risk Pathogenic —
RS2065847886 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2065854138 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2065868148 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2065872186 CACNA1F Health Risk Pathogenic —
RS2065875711 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2065876254 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2065876304 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2065878986 MITF Health Risk Pathogenic —
RS2065880189 CACNA1F Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 2A, Aland island eye disease
RS2065896039 BBS4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome 4
RS2065899210 ATP6V0C Health Risk Pathogenic Seizure, EPILEPSY
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