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
RS1195820653 PDZD7 Health Risk Likely pathogenic —
RS1195825877 CEP120 Health Risk Likely pathogenic —
RS1195831432 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1195840845 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1195873978 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1195882977 PDE6C Health Risk Pathogenic —
RS1195885907 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1195908031 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1195908562 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1195919156 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1195935577 TNXB Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Cardiovascular phenotype
RS1195974666 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1196000654 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1196005021 SMAD6 Health Risk Pathogenic/Likely pathogenic Aortic valve disease 2, Radioulnar synostosis
RS1196005889 ATR Health Risk Pathogenic/Likely pathogenic Seckel syndrome 1, Seckel syndrome 1
RS1196012985 PEX6 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Peroxisome biogenesis disorder
RS1196026821 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1196046487 CEP152 Health Risk Pathogenic —
RS1196057129 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1196091318 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS1196117849 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1196142320 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1196145112 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS1196153507 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 62
RS1196160200 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1196161699 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1196190757 ATP2C1 Health Risk Pathogenic —
RS1196215011 SYCP2L Health Risk Pathogenic Premature ovarian failure 24, Premature ovarian failure 24
RS1196218767 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS1196223064 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS1196239075 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Lynch syndrome 1
RS1196276711 TUBGCP4 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 3, Microcephaly and chorioretinopathy 3
RS1196278287 GJC2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 2, Spastic paraplegia
RS1196281944 TCTN2 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1196290590 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1196317554 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1196325597 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1196342305 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1196356920 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS1196360635 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1196380787 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1196401015 GLDC Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1196406851 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1196443543 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1196469674 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Malignant tumor of urinary bladder
RS1196489060 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS1196495584 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1196497635 SGPL1 Health Risk Pathogenic —
RS1196510455 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1196530552 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1196551352 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1196551559 RFX5 Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency 5
RS1196559591 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1196587621 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS1196609413 LMOD1 Health Risk Pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
RS1196611507 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1196636083 USH2A Health Risk Pathogenic/Likely pathogenic —
RS1196655928 CEP152 Health Risk Pathogenic —
RS1196657001 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1196701463 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 8 conditions
RS1196710568 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1196710763 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1196801124 PCARE Health Risk Pathogenic Retinal dystrophy, PCARE-related disorder
RS1196814221 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1196820381 COL4A5 Health Risk Likely pathogenic Steroid-resistant nephrotic syndrome, Steroid-resistant nephrotic syndrome
RS1196822993 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1196823355 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS1196835948 HSPG2 Health Risk Likely pathogenic Lethal Kniest-like syndrome, Lethal Kniest-like syndrome
RS1196877210 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1196886096 CEP78 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy and hearing loss 1
RS1196891209 POLR3A Health Risk Likely pathogenic POLR3A-related neurological disorders, POLR3A-related neurological disorders
RS1196903858 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1196915574 MYO15A Health Risk Pathogenic —
RS1196929384 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1196937077 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS1196938557 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1196949061 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1196950486 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1196957609 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1196959150 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1196972648 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1196976671 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS1196979432 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1196984337 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency 2
RS1196996393 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS1197018531 SKIC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1197039101 CLTC Health Risk Pathogenic/Likely pathogenic —
RS1197046699 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1197071459 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1197097532 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1197104410 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS1197105310 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1197109885 TMEM231 Health Risk Pathogenic Joubert syndrome 20, Meckel syndrome
RS1197125822 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1197126131 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1197127947 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1197133430 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1197141604 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1197184207 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1197184303 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
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