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
RS1259297878 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1259306034 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1259321805 STS Health Risk Conflicting classifications of pathogenicity X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS1259332141 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1259354298 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1259355217 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS1259363063 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1259365489 BPTF Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Inborn genetic diseases
RS1259376787 LINC02245;SLC1A4 Health Risk Conflicting classifications of pathogenicity Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS1259378167 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1259383083 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1259408806 AHDC1 Health Risk Pathogenic —
RS1259460916 MYO15A Health Risk Likely pathogenic —
RS1259467443 IRS1 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1259517167 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1259551381 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS1259556889 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1259557323 SMAD6 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1259559217 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1259563970 COG6 Health Risk Pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1259593300 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1259610303 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1259613160 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1259615333 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1259637349 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS1259638674 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1259647122 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1259648157 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1259681826 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1259684278 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1259694734 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1259705655 NDUFA12 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS1259755308 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1259758261 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1259761865 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1259778135 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1259778579 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1259779697 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1259782555 RBP4 Health Risk Pathogenic —
RS1259786285 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1259805013 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1259830005 DNAAF2 Health Risk Likely pathogenic DNAAF2-related disorder, DNAAF2-related disorder
RS1259852690 FBRS Health Risk Likely pathogenic Short stature, Short stature
RS1259870849 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1259890351 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1259895025 PBX1 Health Risk Pathogenic PBX1-related disorder, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss
RS1259897171 FAM149B1 Health Risk Pathogenic Joubert syndrome 36, Joubert syndrome 36
RS1259911051 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1259912377 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 13, Intellectual disability
RS1259929847 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1259937492 AGK Health Risk Pathogenic Cataract 38, Sengers syndrome
RS1259941860 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1259967380 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1259976736 CWC27 Health Risk Pathogenic —
RS1259983553 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS1260001540 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1260006751 SMARCA4 Health Risk Conflicting classifications of pathogenicity SMARCA4-related disorder, Hereditary cancer-predisposing syndrome
RS1260018632 MYO15A Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS1260020267 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1260034477 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1260037619 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Magenis syndrome
RS1260047390 ACD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dyskeratosis congenita
RS1260079066 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1260083432 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1260084723 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS1260091224 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS1260094866 NARS2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS1260098414 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1260109664 MED13 Health Risk Conflicting classifications of pathogenicity Developmental disorder, Inborn genetic diseases
RS1260109901 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1260154229 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1260178539 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1260189637 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1260191732 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1260191836 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS12602083 GUCY2D Health Risk Pathogenic —
RS1260218988 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1260222970 KCNC2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS1260256483 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1260262428 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia
RS1260264247 AICDA Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 2, AICDA-related disorder
RS1260279185 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1260291101 RP1 Health Risk Pathogenic —
RS1260356990 CUL4B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1260364391 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1260370117 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1260383512 SEPSECS Health Risk Pathogenic —
RS1260385979 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1260394550 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1260404537 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1260429820 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS1260453815 NDUFS4 Health Risk Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS1260455415 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1260456579 TUBGCP6 Health Risk Pathogenic/Likely pathogenic —
RS1260458096 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS1260485519 PCNT Health Risk Pathogenic —
RS1260510628 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1260510937 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1260517680 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1260523958 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
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