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
RS1745947620 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1746018557 VCAN Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1746070254 NIPBL Health Risk Pathogenic —
RS1746249107 AP3B1 Health Risk Likely pathogenic AP3B1-related disorder, AP3B1-related disorder
RS1746297425 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1746312450 SKIC3 Health Risk Pathogenic —
RS1746314040 SKIC3 Health Risk Pathogenic —
RS1746359403 SLC30A5 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hydrops fetalis
RS1746377687 ADGRV1 Health Risk Pathogenic —
RS1746388061 ADGRV1 Health Risk Pathogenic —
RS1746389144 SLC6A19 Health Risk Pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS1746416323 XRCC4 Health Risk Likely pathogenic Short stature, microcephaly
RS1746468268 PIK3R1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
RS1746480237 AP3B1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1746506127 LIFR Health Risk Likely pathogenic —
RS1746518336 LIFR Health Risk Pathogenic —
RS1746589361 SLC30A5 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hydrops fetalis
RS17466213 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS1746670652 NADK2 Health Risk Pathogenic Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
RS1746675692 TRIO Health Risk Pathogenic —
RS1746681452 TRIO Health Risk Likely pathogenic —
RS1746702381 SKIC3 Health Risk Pathogenic —
RS1746703466 SKIC3 Health Risk Pathogenic —
RS1746711848 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1746736672 LIFR Health Risk Pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS1746738845 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1746741258 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1746763024 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1746764895 TRIO Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1746777262 SKIC3 Health Risk Pathogenic —
RS1746792277 PIK3R1 Health Risk Pathogenic Immunodeficiency 36 with lymphoproliferation, Immunodeficiency 36 with lymphoproliferation
RS1746796602 SKIC3 Health Risk Pathogenic —
RS1746822963 AP3B1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1746847394 TRIO Health Risk Likely pathogenic —
RS1746873504 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1746954710 LIFR Health Risk Pathogenic —
RS1746965734 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1747122771 NAA15 Health Risk Pathogenic —
RS1747146910 MAP1B Health Risk Likely pathogenic —
RS1747192100 SKIC3 Health Risk Pathogenic —
RS1747217573 NAA15 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1747234497 MAP1B Health Risk Likely pathogenic MAP1B-related disorder, MAP1B-related disorder
RS1747269311 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1747274021 MAP1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1747328996 FST Health Risk Conflicting classifications of pathogenicity Orofacial cleft, Orofacial cleft
RS1747335600 SKIC3 Health Risk Pathogenic —
RS1747351128 TRIO Health Risk Pathogenic/Likely pathogenic —
RS1747351918 TRIO Health Risk Pathogenic Inborn genetic diseases, TRIO-related disorder
RS1747352673 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1747357327 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1747397763 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1747474847 SKIC3 Health Risk Pathogenic —
RS1747528071 PIK3R1 Health Risk Likely pathogenic Vascular Malformations and Overgrowth, Vascular Malformations and Overgrowth
RS1747530144 PIK3R1 Health Risk Likely pathogenic Vascular Malformations and Overgrowth, Overgrowth syndrome
RS1747532310 C6 Health Risk Pathogenic —
RS1747534368 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1747566758 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1747567072 SKIC3 Health Risk Likely pathogenic —
RS1747568641 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1747569912 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1747594790 KCNN2 Health Risk Pathogenic Global developmental delay, Cerebellar ataxia
RS1747595026 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1747639986 PIK3R1 Health Risk Likely pathogenic SHORT syndrome, SHORT syndrome
RS1747645807 PIK3R1 Health Risk Likely pathogenic Vascular Malformations and Overgrowth, CLOVES syndrome
RS1747653910 NIPBL Health Risk Pathogenic —
RS1747658551 PIK3R1 Health Risk Pathogenic Vascular Malformations and Overgrowth, Colon adenocarcinoma
RS1747658707 PIK3R1 Health Risk Pathogenic Vascular Malformations and Overgrowth, Vascular Malformations and Overgrowth
RS1747667518 TRIO Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder, autosomal dominant 63
RS1747667870 KIF2A Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3
RS1747669042 TRIO Health Risk Pathogenic/Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder
RS1747685854 SKIC3 Health Risk Pathogenic —
RS1747686698 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1747708267 PIK3R1 Health Risk Likely pathogenic Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS1747827267 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1747853230 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1747866049 NAA15 Health Risk Pathogenic intellectual developmental disorder-50 with behavioral abnormalities (MRD50), intellectual developmental disorder-50 with behavioral abnormalities (MRD50)
RS1747930001 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1747980506 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1747989303 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1747994028 NAA15 Health Risk Likely pathogenic —
RS1747996495 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS1748005026 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1748033 PADI4 Health Risk Benign; association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS17480581 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS1748067893 SKIC3 Health Risk Pathogenic —
RS1748093286 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1748100957 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1748101805 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1748106152 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1748122848 SKIC3 Health Risk Pathogenic —
RS1748144362 NAA15 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1748153358 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1748158034 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1748194816 MAP3K1 Health Risk Likely pathogenic —
RS1748331186 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1748371268 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1748372023 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1748378605 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1748397238 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1748431071 ERCC8 Health Risk Likely pathogenic —
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