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
RS1309000004 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1309003036 SEPSECS Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS1309043028 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1309069299 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1309076303 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1309099253 QDPR Health Risk Conflicting classifications of pathogenicity Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1309100490 TULP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 14
RS1309116467 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1309120344 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1309123671 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1309132512 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1309140887 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinal dystrophy
RS1309148182 AXIN2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1309151152 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1309166815 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS1309168496 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1309176953 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1309189611 CUBN Health Risk Likely pathogenic —
RS1309204908 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1309221065 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1309242606 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1309250331 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS1309255175 ERCC6 Health Risk Pathogenic —
RS1309255666 CDC14A Health Risk Conflicting classifications of pathogenicity —
RS1309257585 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1309274168 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1309276486 PUS1 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS1309291116 ZMYM2 Health Risk Pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract
RS1309292778 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS1309298089 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS1309299805 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1309303130 BUB1B Health Risk Likely pathogenic —
RS1309307492 SLC5A2 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS1309309448 SPINK5 Health Risk Pathogenic/Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1309343892 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS1309389793 GNAO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1309394469 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1309399887 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1309408215 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS1309421397 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1309440527 MERTK Health Risk Conflicting classifications of pathogenicity —
RS1309457938 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS1309465358 OCLN Health Risk Pathogenic —
RS1309471182 IFT81 Health Risk Pathogenic —
RS1309471492 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1309478967 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1309501452 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1309520305 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS1309543056 TJP2 Health Risk Pathogenic —
RS1309552809 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1309560054 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1309562690 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1309568447 ANK2 Health Risk Likely pathogenic —
RS1309569258 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
RS1309576866 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1309577378 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1309588455 IGSF1 Health Risk Pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
RS1309602954 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1309614617 TTLL5 Health Risk Pathogenic —
RS1309619067 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS1309621904 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1309641888 ENTPD1 Health Risk Pathogenic Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS1309660408 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1309805676 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1309822720 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1309840208 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS1309855392 GLI1 Health Risk Pathogenic Polydactyly, postaxial
RS1309880692 NUP37 Health Risk Pathogenic Microcephaly 24, primary
RS1309889719 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1309891064 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1309892323 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1309894047 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1309922077 B9D1 Health Risk Likely pathogenic Joubert syndrome 27, Meckel syndrome
RS1309931610 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1309932338 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1309932713 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1309958938 PSMD12 Health Risk Likely pathogenic —
RS1310011888 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS1310022305 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1310022652 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS1310024982 APC Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1310029541 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1310042249 FARSB Health Risk Likely pathogenic —
RS1310044429 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1310048288 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1310067072 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1310075515 FTCD Health Risk Pathogenic/Likely pathogenic Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
RS1310082996 MC1R Health Risk risk factor UV-induced skin damage, susceptibility to
RS1310109020 NIN Health Risk Likely pathogenic Seckel syndrome 7, Seckel syndrome 7
RS1310110289 AP1S1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, MEDNIK syndrome
RS1310128359 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1310133198 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1310195190 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
RS1310229049 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 5
RS1310240075 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1310267862 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS1310284141 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1310296844 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1310304264 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1310351331 EXOSC9 Health Risk Pathogenic —
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