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
RS1194633608 ILDR1 Health Risk Pathogenic —
RS119463988 PDSS1 Health Risk Pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS119463989 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS119463990 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS119463991 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS119463992 FKTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Walker-Warburg congenital muscular dystrophy
RS119463993 FKTN Health Risk Pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS119463994 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy
RS119463995 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS119463996 FKTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS119464997 FKTN Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS119464998 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS119465999 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, UTP4-related disorder
RS119466000 LRPPRC Health Risk Pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS119466001 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS119466002 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 1/7, digenic
RS119467003 TDP1 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS1194673433 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS1194679272 PCCA Health Risk Pathogenic Propionic acidemia, PCCA-related disorder
RS119468004 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, See cases
RS119468005 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS119468006 COQ8A Health Risk Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS119468008 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS119468010 MPO Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, Alzheimer disease type 1
RS119469012 MPO Health Risk Pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS119469013 MPO Health Risk Pathogenic Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS119469014 MPO Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, MPO-related disorder
RS1194694298 PPM1D Health Risk Likely pathogenic —
RS119470016 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS119470017 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS119470018 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS119470019 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS119470020 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1194700242 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1194707294 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS119471021 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS119471022 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS119471023 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome
RS119471024 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS119471025 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS119472026 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Inborn genetic diseases
RS119472027 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Familial thyroid dyshormonogenesis
RS119472028 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Familial thyroid dyshormonogenesis
RS119472029 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS119473030 SLC25A19 Health Risk Pathogenic Amish lethal microcephaly, Amish lethal microcephaly
RS119473031 MLPH Health Risk Likely pathogenic Griscelli syndrome type 3, Griscelli syndrome type 3
RS119473032 LZTS1 Health Risk Pathogenic Esophageal squamous cell carcinoma, somatic
RS119473033 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, 9 conditions
RS119473034 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS119473035 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS119473036 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS119473037 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS119473038 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Nephrotic syndrome
RS119474039 EIF2B3 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3
RS119475040 ANTXR1 Health Risk risk factor Capillary infantile hemangioma, Capillary infantile hemangioma
RS119475041 DHCR24 Health Risk Likely pathogenic Desmosterolosis, Desmosterolosis
RS119475042 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS119475043 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS119476044 EGLN1 Health Risk Pathogenic Erythrocytosis, familial
RS119476045 EGLN1 Health Risk Pathogenic Erythrocytosis, familial
RS119476046 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Neuropathy
RS119476047 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS119476048 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS119476049 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS119476050 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS119476051 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1194763374 RMND1 Health Risk Pathogenic —
RS1194768011 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS119477052 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS119477053 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS119477055 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS119477056 CD96 Health Risk Pathogenic C syndrome, C syndrome
RS1194776238 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 1
RS119478058 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome
RS119478059 MRPS22 Health Risk Pathogenic/Likely pathogenic Hypotonia with lactic acidemia and hyperammonemia, Ovarian dysgenesis 7
RS119479061 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS119479062 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS119479063 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS119479064 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS119479065 ABCG5 Health Risk Pathogenic/Likely pathogenic Sitosterolemia 2, Sitosterolemia
RS119479066 ABCG5 Health Risk Pathogenic Sitosterolemia 2, ABCG5-related disorder
RS119479067 ABCG5 Health Risk Pathogenic Sitosterolemia 2, Sitosterolemia
RS1194793421 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome
RS119480069 ABCG5 Health Risk Pathogenic/Likely pathogenic Sitosterolemia 2, Sitosterolemia
RS119480070 ABCG5 Health Risk Pathogenic Sitosterolemia 2, Sitosterolemia 2
RS119480071 LPIN1 Health Risk Pathogenic Myoglobinuria, acute recurrent
RS119480072 LPIN1 Health Risk Pathogenic Myoglobinuria, acute recurrent
RS119480073 LPIN1 Health Risk Pathogenic Myoglobinuria, acute recurrent
RS119481074 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS119481075 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism
RS119481076 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism
RS119481077 HSD17B3 Health Risk Pathogenic/Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism
RS119481078 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS119481079 HSD17B3 Health Risk Pathogenic/Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS119481080 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS119482081 SPTLC1 Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 1, Neuropathy
RS119482082 SPTLC1 Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease
RS119482083 SPTLC1 Health Risk Pathogenic/Likely pathogenic Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease
RS119483085 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS119484086 ELAC2 Health Risk Conflicting classifications of pathogenicity Prostate cancer, hereditary
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