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
RS1362592984 ADGRV1 Health Risk Likely pathogenic —
RS1362597973 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1362599473 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1362606570 CENPF Health Risk Likely pathogenic —
RS1362615818 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS1362619480 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1362644811 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS1362648752 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome
RS1362663440 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS1362664502 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS1362690516 IFITM5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS1362710187 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1362719565 SLC4A11 Health Risk Pathogenic —
RS1362738445 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease
RS1362746093 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1362758319 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1362771214 ZFP57 Health Risk Likely pathogenic —
RS1362774341 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1362774896 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome 8
RS1362796016 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1362798167 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1362830842 DNAJC21 Health Risk Likely pathogenic —
RS1362833043 ALPL Health Risk Pathogenic —
RS1362844961 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1362847020 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1362848762 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1362872776 C5 Health Risk Likely pathogenic —
RS1362873316 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1362890886 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS1362893874 ZNF335 Health Risk Pathogenic —
RS1362905226 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1362906637 PEX1 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 1, Heimler syndrome 1
RS1362935450 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1362937677 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1362938038 ADGRG1 Health Risk Pathogenic —
RS1362962336 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1362964563 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Age related macular degeneration 2
RS1362985118 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1362994447 ACTG1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS1363004176 NBEA Health Risk Conflicting classifications of pathogenicity —
RS1363009203 CACNA1G Health Risk Conflicting classifications of pathogenicity CACNA1G-related disorder, Inborn genetic diseases
RS1363011952 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1363012434 SYNGAP1 Health Risk Pathogenic —
RS1363014007 ASNS Health Risk Likely pathogenic —
RS1363017615 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1363032805 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1363034255 GFER Health Risk Pathogenic Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
RS1363043396 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1363058249 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1363062305 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS1363070884 ATP2B2 Health Risk Pathogenic —
RS1363096463 USP9X Health Risk Conflicting classifications of pathogenicity —
RS1363099908 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS1363104728 RAD51C Health Risk Pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS1363121734 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Malignant tumor of urinary bladder
RS1363124795 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1363125797 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1363133370 PHIP Health Risk Likely pathogenic —
RS1363162720 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1363164647 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1363166555 TYR Health Risk Likely pathogenic —
RS1363186839 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1363188459 CIB2 Health Risk Likely pathogenic —
RS1363198922 PPFIBP1 Health Risk Pathogenic Microcephaly, Severe intellectual disability
RS1363207852 KCNH1 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, KCNH1-related disorder
RS1363237554 LARS1 Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 1, Infantile liver failure syndrome 1
RS1363245838 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1363248710 UBA5 Health Risk Likely pathogenic —
RS1363265634 SDHC Health Risk Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1363268262 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1363277825 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1363290269 COL4A1 Health Risk Likely pathogenic Sarcoma, Sarcoma
RS1363298408 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1363308293 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1363308991 COL7A1 Health Risk Pathogenic —
RS1363313204 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1363345814 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1363348500 PSMC3 Health Risk Pathogenic 12 conditions, 12 conditions
RS1363359148 CEP78 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1363364769 CCDC40 Health Risk Pathogenic Heterotaxy, Heterotaxy
RS1363364803 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1363366811 CEP152 Health Risk Likely pathogenic —
RS1363382746 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1363396787 DVL1 Health Risk Conflicting classifications of pathogenicity —
RS1363412937 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1363426044 TRAF3IP1 Health Risk Likely pathogenic —
RS1363433371 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1363441287 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Alport syndrome
RS1363445022 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1363451641 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS1363452328 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS1363475546 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, Pili torti-deafness syndrome
RS1363486576 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1363491382 CEP78 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1363494222 LAT Health Risk Likely pathogenic —
RS1363497653 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1363498219 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1363500354 COL11A2 Health Risk Pathogenic —
RS1363507110 LYZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyloidosis
RS1363518429 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
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