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
RS1272053459 ADSL Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Adenylosuccinate lyase deficiency
RS1272063335 SLC34A1 Health Risk Pathogenic Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1
RS1272068741 USP7 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS12720763 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS12720810 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12720843 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS12720850 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS12720854 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS12720855 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1272097668 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Inborn genetic diseases
RS12721365 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS1272136993 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1272140892 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS1272158837 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS12721593 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1272165811 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1272214012 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1272214299 RARS1 Health Risk Pathogenic —
RS1272217791 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS1272227420 MYO3A Health Risk Likely pathogenic MYO3A-related disorder, MYO3A-related disorder
RS1272227612 KCNJ5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1272228031 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1272232395 CYBA Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS1272238711 COL7A1 Health Risk Pathogenic —
RS1272244088 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1272250863 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1272252113 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Seizure
RS1272269119 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Ovarian cancer
RS1272300904 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1272356369 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1272384074 KCNJ11 Health Risk Conflicting classifications of pathogenicity —
RS1272388614 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1272393477 DNA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS1272409475 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1272411609 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS1272414751 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, beta Thalassemia
RS12724260 FOXE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital primary aphakia
RS1272430190 RARS1 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9
RS1272438892 ARSL Health Risk Likely pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS1272440643 PROC Health Risk Likely pathogenic —
RS1272460783 CPS1 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, neonatal
RS1272465233 OCA2 Health Risk Pathogenic —
RS1272477167 KCNV2 Health Risk Pathogenic —
RS1272484713 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1272484865 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1272518428 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1272520734 SIL1 Health Risk Likely pathogenic —
RS1272539937 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1272546759 GNAS Health Risk Conflicting classifications of pathogenicity Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS1272549405 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 10, Retinitis pigmentosa 10
RS1272572107 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1272573854 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M
RS1272594778 DHDDS Health Risk Pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS1272600960 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1272612301 ADAMTS6 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1272613429 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1272619479 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS1272638490 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1272697701 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1272702356 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1272709022 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS1272746750 NR2F1 Health Risk Conflicting classifications of pathogenicity —
RS1272762412 CARD9 Health Risk Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1272767361 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1272771676 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1272803483 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1272811865 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1272820357 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1272826809 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1272853346 PRDM5 Health Risk Likely pathogenic —
RS1272859605 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1272869557 OPLAH Health Risk Pathogenic/Likely pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS1272877615 BBS7 Health Risk Likely pathogenic BBS7-related disorder, BBS7-related disorder
RS1272886269 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1272896075 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1272920425 SERPINF1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1272943113 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1272947184 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1272948499 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS1272960343 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome, Cockayne syndrome
RS1272962297 ERCC6 Health Risk Pathogenic —
RS1272966226 ABCA12 Health Risk Pathogenic —
RS1272966742 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1272987725 KCNT1 Health Risk Likely pathogenic Seizure, Seizure
RS1273026419 ADGRL1;ADGRL1-AS1 Health Risk Likely pathogenic Developmental delay, behavioral abnormalities
RS1273049043 PEPD Health Risk Likely pathogenic —
RS1273070261 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1273080022 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1273080258 F8 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1273092523 GTPBP3 Health Risk Pathogenic —
RS1273109738 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1273116884 DEGS1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1273119646 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1273139451 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS1273153948 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1273164833 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1273181642 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1273183086 CXCR2 Health Risk Likely pathogenic WHIM syndrome 2, WHIM syndrome 2
RS1273193718 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS12731981 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
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