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
RS1219855028 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1219881581 KIF12 Health Risk Likely pathogenic —
RS1219910828 MYO7A Health Risk Pathogenic —
RS1219930764 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1219954334 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1219958424 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1219988835 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1220018679 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1220058715 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1220062851 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1220080934 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1220111705 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1220125702 ALPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adult hypophosphatasia
RS1220133830 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS1220143491 MIP Health Risk Pathogenic Cataract 15 multiple types, Inborn genetic diseases
RS1220151696 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1220159784 ABCC2 Health Risk Likely pathogenic —
RS1220169908 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS1220176907 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1220214438 COL18A1 Health Risk Pathogenic —
RS1220219700 PAX3 Health Risk Pathogenic —
RS1220240959 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1220263188 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1220271750 LOXHD1 Health Risk Pathogenic —
RS1220292735 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1220294928 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1220302158 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS1220317427 ESPN Health Risk Likely pathogenic —
RS1220335751 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1220336558 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS1220347917 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1220348139 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1220351376 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1220363895 APOB Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, autosomal dominant
RS1220371654 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1220372775 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1220385043 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS1220386162 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1220418124 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1220432347 COL4A2 Health Risk Pathogenic Porencephaly 2, Porencephaly 2
RS1220443382 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1220493082 DUOX2 Health Risk Pathogenic —
RS1220521725 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1220530084 VPS41 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 29
RS1220533001 FGF23 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS1220560319 CPLANE1 Health Risk Likely pathogenic —
RS1220569070 DNAH9 Health Risk Pathogenic —
RS1220581324 ARMC9 Health Risk Likely pathogenic —
RS1220584620 SYNE1 Health Risk Pathogenic/Likely pathogenic —
RS1220602138 CDHR1 Health Risk Pathogenic —
RS1220602405 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1220608789 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1220617136 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1220641407 EMC1 Health Risk Pathogenic —
RS1220641430 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1220645831 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1220650950 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1220672299 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1220672669 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1220674950 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1220688120 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1220735820 MPDZ Health Risk Pathogenic —
RS1220739673 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS1220741239 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS1220746088 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1220749812 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1220757614 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1220762553 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1220771600 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1220777931 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1220780685 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS1220783333 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS1220787593 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1220794170 MED17 Health Risk Likely pathogenic —
RS1220798796 PRRT2 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia, Seizures
RS1220814973 AKAP3 Health Risk Pathogenic Spermatogenic failure 82, Spermatogenic failure 82
RS1220815012 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS1220821559 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1220853793 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1220859536 RECQL Health Risk Likely pathogenic Malignant neoplastic disease, Malignant neoplastic disease
RS1220869113 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome
RS1220869989 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, F11-related disorder
RS1220876973 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS1220881640 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS1220885838 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1220886340 ADGRV1 Health Risk Pathogenic —
RS1220902289 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1220930025 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1220944647 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1220960430 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1220963408 DMD Health Risk Pathogenic —
RS1220968996 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1220970427 SLC26A8 Health Risk Pathogenic Spermatogenic failure 3, Spermatogenic failure 3
RS1220975714 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1220980701 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1220982145 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS1220989716 LAMA3 Health Risk Pathogenic —
RS1220996970 IGSF1 Health Risk Pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
RS1221010438 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1221017154 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
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