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
RS10757274 CDKN2B-AS1 Health Risk risk factor Three Vessel Coronary Disease, Three Vessel Coronary Disease
RS10759497 ECPAS Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS1076466 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS10776 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS10789501 CYP4A22 Health Risk association Pulmonary disease, chronic obstructive
RS10835638 FSHB Health Risk association Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
RS10836312 - Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS1085307049 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3, Retinitis pigmentosa 61
RS1085307051 MEF2C Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1085307053 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1085307054 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1085307056 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1085307057 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1085307058 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1085307066 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1085307068 GORAB Health Risk Pathogenic/Likely pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS1085307072 HSD17B4 Health Risk Likely pathogenic Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS1085307074 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1085307078 LRP5 Health Risk Pathogenic/Likely pathogenic Bone mineral density quantitative trait locus 1, 6 conditions
RS1085307081 NCSTN Health Risk Pathogenic Acne inversa, familial
RS1085307083 ORC4 Health Risk Pathogenic Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
RS1085307087 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1085307088 RAD50 Health Risk Conflicting classifications of pathogenicity Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS1085307090 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS1085307091 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1085307095 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS1085307096 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS1085307097 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1085307100 TRDN Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1
RS1085307101 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS1085307107 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1085307108 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS1085307109 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS1085307110 KY Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1085307111 ACP4 Health Risk Pathogenic Amelogenesis imperfecta, type 1J
RS1085307112 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS1085307113 MTOR Health Risk Pathogenic Isolated focal cortical dysplasia type II, CEBALID syndrome
RS1085307114 MTOR Health Risk Pathogenic Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS1085307115 RPS27 Health Risk Pathogenic Diamond-Blackfan anemia 17, Diamond-Blackfan anemia 17
RS1085307118 USP18 Health Risk Likely pathogenic Pseudo-TORCH syndrome 2, Pseudo-TORCH syndrome 2
RS1085307119 RPL27 Health Risk Pathogenic Diamond-Blackfan anemia 16, Diamond-Blackfan anemia 16
RS1085307120 CEP135 Health Risk Pathogenic Microcephaly 8, primary
RS1085307121 CFAP418 Health Risk Pathogenic Cone-rod dystrophy 16, Cone-rod dystrophy 16
RS1085307122 SMAD6 Health Risk risk factor CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
RS1085307124 NECTIN4 Health Risk Pathogenic Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
RS1085307125 NECTIN4 Health Risk Pathogenic Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
RS1085307126 BFSP1 Health Risk Pathogenic Cataract 33, Cataract 33
RS1085307127 BFSP1 Health Risk Pathogenic Cataract 33, Cataract 33
RS1085307128 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS1085307129 RAB33B Health Risk Conflicting classifications of pathogenicity Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS1085307130 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS1085307131 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS1085307132 PUF60 Health Risk Likely pathogenic —
RS1085307134 PUF60 Health Risk Likely pathogenic —
RS1085307135 PUF60 Health Risk Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome, Inborn genetic diseases
RS1085307137 PUF60 Health Risk Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1085307138 PUF60 Health Risk Likely pathogenic —
RS1085307139 PUF60 Health Risk Likely pathogenic —
RS1085307142 SCN11A Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 7, Hereditary sensory and autonomic neuropathy type 7
RS1085307143 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1085307144 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307145 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307146 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307147 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307148 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307149 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307150 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307151 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307152 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307153 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307154 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307155 BMPR2 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1085307156 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307157 BMPR2 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS1085307158 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307159 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307160 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307161 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307162 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307163 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307164 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307165 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307166 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307169 BMPR2 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS1085307170 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307171 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307172 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307173 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307174 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307175 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307176 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307177 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307178 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307179 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307180 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307181 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307182 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1085307183 BMPR2 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1085307184 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS1085307185 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
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