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
RS113994171 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS113994174 ZAP70 Health Risk Likely pathogenic Combined immunodeficiency due to ZAP70 deficiency, Severe combined immunodeficiency disease
RS113994177 JUP Health Risk Pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS113994178 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS113994179 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS113994180 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS113994186 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS4-related disorder
RS113994189 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS113994190 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS113994191 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS113994192 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS113994195 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS113994196 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, MKKS-related disorder
RS113994198 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS113994200 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS113994202 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Inborn genetic diseases
RS113994203 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS113994204 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS113994205 CTNS Health Risk Pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS113994206 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS113994207 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Nephropathic cystinosis
RS113994208 CTNS Health Risk Pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS113994209 CTNS Health Risk Pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS113994210 CTNS Health Risk Pathogenic Ocular cystinosis, Ocular cystinosis
RS113994211 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Infantile nephropathic cystinosis
RS113994614 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS113998091 POLE Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS113998363 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114000466 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS114009747 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS114025919 GHR Health Risk Conflicting classifications of pathogenicity —
RS114030714 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, CPT1A-related disorder
RS114037612 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1140424 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS114044880 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS114052315 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Pigmented paravenous retinochoroidal atrophy
RS114055800 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS114056499 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, INVS-related disorder
RS114057537 PCARE Health Risk Pathogenic —
RS114057640 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Intellectual disability
RS114061998 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS114063013 BCHE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114064158 TTC8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Bardet-Biedl syndrome
RS114064359 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS114070375 THRB Health Risk Conflicting classifications of pathogenicity Thyroid hormone resistance, generalized
RS114073621 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS114082868 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS114089598 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS114090343 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS114096530 SEC24D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SEC24D-related disorder
RS114096998 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS114098188 SPATA17 Health Risk Conflicting classifications of pathogenicity —
RS114100439 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS1141040 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS114108462 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS114110705 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114112112 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, NPHS1-related disorder
RS114116572 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS114119067 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Hereditary cancer-predisposing syndrome
RS114120958 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS114131542 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS114135540 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS114136713 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS114137271 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS114137750 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS114137983 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS1141387 HBB Health Risk Likely pathogenic Erythrocytosis, familial
RS114143715 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS114144694 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS114147805 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS114149656 ABCC6 Health Risk Pathogenic —
RS114152068 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS114157340 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS114157534 TG Health Risk Pathogenic —
RS114160429 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, SGCG-related disorder
RS114160749 TRPM6 Health Risk Conflicting classifications of pathogenicity —
RS114168492 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS114171764 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS114172228 TNS2 Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Colon adenocarcinoma
RS1141754 GRN Health Risk Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS114176862 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, CHIME syndrome
RS114178789 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS114179357 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS1141802 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type I
RS1141814 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease
RS114185660 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS114190729 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114194130 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Inborn genetic diseases
RS114194722 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS114201291 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS114202595 PAX4 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Maturity-onset diabetes of the young
RS114203578 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Nephrotic syndrome
RS114204766 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS114211101 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS114212275 SLC26A2 Health Risk Conflicting classifications of pathogenicity Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II
RS114215135 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS114218080 CENPF Health Risk Conflicting classifications of pathogenicity CENPF-related disorder, Inborn genetic diseases
RS1142183 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS114220185 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS114229197 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
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