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
RS267607011 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Hereditary cancer-predisposing syndrome
RS267607012 RFX6 Health Risk Likely pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS267607013 RFX6 Health Risk Likely pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, RFX6-related disorder
RS267607016 ROR2 Health Risk Pathogenic Robinow syndrome, autosomal recessive
RS267607017 RP1L1 Health Risk Pathogenic/Likely pathogenic Occult macular dystrophy, Retinal dystrophy
RS267607020 RPGRIP1L Health Risk Pathogenic COACH syndrome 3, Joubert syndrome 7
RS267607021 RPS10 Health Risk Pathogenic Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
RS267607022 RPS10 Health Risk Pathogenic Diamond-Blackfan anemia 9, Diamond-Blackfan anemia
RS267607023 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS267607024 RRM2B Health Risk Pathogenic Mitochondrial DNA depletion syndrome 8B (MNGIE type), RRM2B-related mitochondrial disease
RS267607025 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8B (MNGIE type), RRM2B-related mitochondrial disease
RS267607026 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS267607027 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS267607028 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Atrial fibrillation
RS267607029 SCN1B Health Risk Pathogenic Conduction system disorder, Conduction system disorder
RS267607031 SDCCAG8 Health Risk Pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS267607032 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome
RS267607034 SEMA4A Health Risk Pathogenic Cone-rod dystrophy 10, Retinitis pigmentosa 35
RS267607035 SEPSECS Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontoneocerebellar hypoplasia
RS267607036 SEPSECS Health Risk Pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS267607037 SERPINB6 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91
RS267607038 SETBP1 Health Risk Pathogenic Schinzel-Giedion syndrome, Intellectual disability
RS267607039 SETBP1 Health Risk Pathogenic Schinzel-Giedion syndrome, Schinzel-Giedion syndrome
RS267607040 SETBP1 Health Risk Pathogenic Schinzel-Giedion syndrome, SETBP1-related disorder
RS267607041 SETBP1 Health Risk Pathogenic Schinzel-Giedion syndrome, Schinzel-Giedion syndrome
RS267607042 SETBP1 Health Risk Pathogenic/Likely pathogenic Schinzel-Giedion syndrome, Intellectual disability
RS267607044 SETX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Spinocerebellar ataxia
RS267607045 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS267607046 SH3PXD2B Health Risk Likely pathogenic Frank-Ter Haar syndrome, Inborn genetic diseases
RS267607047 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS267607048 SHOC2 Health Risk Pathogenic Noonan syndrome-like disorder with loose anagen hair 1, RASopathy
RS267607049 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS267607050 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Renal tubulopathies
RS267607051 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Renal tubulopathies
RS267607052 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS267607053 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Inborn genetic diseases
RS267607054 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS267607056 SLC29A3 Health Risk Pathogenic/Likely pathogenic H syndrome, H syndrome
RS267607057 SLC29A3 Health Risk Likely pathogenic H syndrome, Clear cell carcinoma of kidney
RS267607058 SLC29A3 Health Risk Pathogenic H syndrome, SLC29A3-related disorder
RS267607059 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS267607060 SLC2A1 Health Risk Pathogenic Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS267607061 SLC2A1 Health Risk Pathogenic Childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1
RS267607062 SLC35D1 Health Risk Pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS267607063 SLC35D1 Health Risk Pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS267607064 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS267607066 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Fuchs endothelial
RS267607067 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, SLC5A2-related disorder
RS267607068 SLC6A3 Health Risk Pathogenic Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome
RS267607069 SLC6A3 Health Risk Pathogenic Classic dopamine transporter deficiency syndrome, Classic dopamine transporter deficiency syndrome
RS267607070 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS267607071 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS267607072 SMARCB1 Health Risk Pathogenic SMARCB1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS267607073 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS267607074 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS267607075 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS267607076 SMS Health Risk Pathogenic Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS267607077 SNRNP200 Health Risk Pathogenic Retinitis pigmentosa 33, Retinitis pigmentosa
RS267607079 SOS1 Health Risk Pathogenic Noonan syndrome 4, Noonan syndrome
RS267607080 SOS1 Health Risk Pathogenic Noonan syndrome 4, Noonan syndrome
RS267607081 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, with neurologic involvement
RS267607082 SOX17 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 3, Vesicoureteral reflux 3
RS267607084 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS267607085 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS267607086 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Elliptocytosis 3
RS267607087 SPTLC1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS267607089 SPTLC2 Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS267607090 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS267607091 SPTLC2 Health Risk Pathogenic NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC
RS267607092 SRD5A3 Health Risk Pathogenic SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS267607093 SRD5A3 Health Risk Pathogenic SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS267607094 SRD5A3 Health Risk Pathogenic SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS267607095 SRD5A3 Health Risk Pathogenic SRD5A3-congenital disorder of glycosylation, Abnormality of the nervous system
RS267607096 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS267607097 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS267607098 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS267607099 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS267607101 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS267607102 TARDBP Health Risk Pathogenic FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
RS267607103 TBC1D24 Health Risk Pathogenic Familial infantile myoclonic epilepsy, Developmental and epileptic encephalopathy
RS267607104 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Autosomal dominant nonsyndromic hearing loss 65
RS267607105 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Inborn genetic diseases
RS267607106 TBX20 Health Risk Pathogenic Atrial septal defect 4, Atrial septal defect 4
RS267607108 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS267607111 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Torsion dystonia 6
RS267607112 THAP1 Health Risk Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS267607114 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS267607115 TMEM67 Health Risk Pathogenic/Likely pathogenic COACH syndrome 1, Joubert syndrome 6
RS267607116 TMEM67 Health Risk Pathogenic Nephronophthisis 11, Joubert syndrome 6
RS267607117 TMEM67 Health Risk Pathogenic Nephronophthisis 11, Joubert syndrome
RS267607118 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Meckel-Gruber syndrome
RS267607119 TMEM67 Health Risk Pathogenic/Likely pathogenic COACH syndrome 1, Joubert syndrome 6
RS267607120 TMIE Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS267607121 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS267607122 FAS Health Risk Pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
RS267607125 TNNC1 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 13, Cardiovascular phenotype
RS267607127 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS267607128 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy
RS267607129 TNNI3 Health Risk Pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
RS267607130 TNNI3 Health Risk Pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
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