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
RS1663245097 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663246215 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663246649 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663251692 APOB Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1663270865 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663292441 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663294340 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1663296303 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663298665 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1
RS1663311706 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS1663313424 COL11A1 Health Risk Likely pathogenic Marshall syndrome, Marshall syndrome
RS1663321162 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1663338324 APOB Health Risk Pathogenic —
RS1663355633 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663379209 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1663384249 DRC1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1663384393 APOB Health Risk Pathogenic Cardiovascular phenotype, Hypercholesterolemia
RS1663391660 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1663402590 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1663429897 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1663450536 KCNK3 Health Risk Pathogenic —
RS1663516243 NBAS Health Risk Conflicting classifications of pathogenicity —
RS1663520073 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1663522846 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1663550401 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1663553610 APOB Health Risk Likely pathogenic —
RS1663556957 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663578215 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1663584680 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1663631401 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1663633174 DDR2 Health Risk Pathogenic —
RS1663654908 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1663675984 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1663691728 DRC1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1663748771 PRKACB Health Risk Pathogenic Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
RS1663772190 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS1663780024 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1663792524 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1663793007 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1663812465 DRC1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1663813561 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS1663814011 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1663814241 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1663814857 DBT Health Risk Likely pathogenic Maple syrup urine disease type 2, Maple syrup urine disease type 2
RS1663836291 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1663930286 RYR2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1663951981 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1663959543 GALNT2 Health Risk Pathogenic Congenital disorder of glycosylation, type iit
RS1663960324 GALNT2 Health Risk Likely pathogenic Congenital disorder of glycosylation, type iit
RS1663984693 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1664016363 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1664099851 FLVCR1 Health Risk Pathogenic —
RS1664103646 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1664107730 FLVCR1 Health Risk Likely pathogenic —
RS1664132167 FLVCR1 Health Risk Pathogenic —
RS1664140651 FLVCR1 Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy, Retinitis pigmentosa
RS1664160163 KIDINS220 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1664173086 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1664202070 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS1664228420 KCND3 Health Risk Conflicting classifications of pathogenicity —
RS1664277152 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS1664289410 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664290387 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS1664292210 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664298414 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinal dystrophy
RS1664299326 ADAM17 Health Risk Conflicting classifications of pathogenicity Inflammatory skin and bowel disease, neonatal
RS1664299898 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664301074 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1664303657 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664306632 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1664313783 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664317534 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1664322968 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Intellectual disability
RS1664325377 CRB1 Health Risk Pathogenic Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS1664329331 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664341626 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664343244 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1664348016 CRB1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Leber congenital amaurosis 8
RS1664428364 KIDINS220 Health Risk Pathogenic —
RS1664428695 KIDINS220 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, intellectual disability
RS1664440809 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1664490756 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1664499681 OTOF Health Risk Conflicting classifications of pathogenicity —
RS1664521219 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1664579873 OTOF Health Risk Pathogenic —
RS1664580718 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1664585937 COL11A1 Health Risk Likely pathogenic —
RS1664593626 COL11A1 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Marshall syndrome
RS1664595275 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1664604921 OTOF Health Risk Pathogenic —
RS1664632655 KCND3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS1664642051 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664643556 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1664649015 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1664649489 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1664650245 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664651786 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1664656299 CRB1 Health Risk Likely pathogenic CRB1-related maculopathy, CRB1-related maculopathy
RS1664661129 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1664661222 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Melanoma
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