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
RS1017756733 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1017764354 VARS2 Health Risk Likely pathogenic —
RS1017775999 RDH11 Health Risk Pathogenic —
RS1017789243 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1017800347 POC1B Health Risk Likely pathogenic —
RS1017845770 ROBO1 Health Risk Likely pathogenic Tetralogy of Fallot, Neurooculorenal syndrome
RS1017855149 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1017904946 FDXR;GRIN2C Health Risk Conflicting classifications of pathogenicity Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
RS1017919543 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1017941933 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1017946059 EVC Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1017972143 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1017976239 SKIC3 Health Risk Likely pathogenic —
RS1018026145 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, FG syndrome
RS1018027137 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1018067067 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1018074229 KDM5C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1018084204 CHRNA2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1018092020 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS1018093316 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1018100729 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1018117461 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1018125027 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS1018129986 EGLN1 Health Risk Pathogenic Erythrocytosis, familial
RS1018140779 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1018143132 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1018165800 LEMD3 Health Risk Pathogenic Osteopoikilosis, Osteopoikilosis
RS1018199395 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS1018289242 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1018327394 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1018350024 SLC44A1 Health Risk Conflicting classifications of pathogenicity —
RS1018405924 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1018448425 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1018452459 SPOUT1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, SPOUT1-associated neurodevelopmental disorder
RS1018458052 YARS2 Health Risk Conflicting classifications of pathogenicity —
RS1018501056 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1018505000 NOG Health Risk Conflicting classifications of pathogenicity NOG-related disorder, NOG-related disorder
RS1018525321 ARCN1 Health Risk Pathogenic Short stature, rhizomelic
RS1018529334 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1018532168 FOXD2 Health Risk Likely pathogenic See cases, See cases
RS1018540956 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1018543927 MRPS34 Health Risk Pathogenic —
RS1018556947 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1018564264 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1018587967 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1018604774 KMT2B Health Risk Conflicting classifications of pathogenicity KMT2B-related disorder, KMT2B-related disorder
RS10186160 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1018709493 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1018717398 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1018740778 FHL2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1018780128 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Inborn genetic diseases
RS1018795199 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1018808319 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1018820638 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1018881303 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1018903291 SLC52A3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1018925405 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1018928368 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1018933248 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS1018948570 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS1018951391 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1018959938 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS1018963624 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1019021563 SLC26A4 Health Risk Pathogenic —
RS1019055469 OFD1 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 2, Simpson-Golabi-Behmel syndrome type 2
RS1019065457 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1019098903 MAP2K1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1019112544 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1019204290 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS1019221239 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS1019249439 GTPBP3 Health Risk Pathogenic —
RS1019259823 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS1019263242 CAD Health Risk Pathogenic —
RS1019298480 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1019313682 NBAS Health Risk Likely pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS1019315150 EYS Health Risk Pathogenic —
RS1019330092 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS1019340046 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1019345080 UPB1 Health Risk Likely pathogenic —
RS1019345995 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1019355776 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1019373559 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1019388756 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS1019391145 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1019442092 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome 1
RS1019450405 ASAH1 Health Risk Likely pathogenic —
RS1019483000 MIB1 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 7, Left ventricular noncompaction 7
RS1019496764 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS1019504966 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1019515406 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS1019534975 RPL10 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1019535182 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1019687054 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS1019692996 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1019701119 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS1019760354 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism spectrum disorder
RS1019766125 IL1RN Health Risk Pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS1019772614 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1019805272 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1019850669 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETBP1-related disorder
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