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
RS1363536856 VAC14 Health Risk Conflicting classifications of pathogenicity Striatonigral degeneration, childhood-onset
RS1363547577 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1363559666 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1363575527 RFX5 Health Risk Pathogenic/Likely pathogenic RFX5-related disorder, MHC class II deficiency
RS1363632615 TMEM231 Health Risk Pathogenic Joubert syndrome 20, Meckel syndrome
RS1363641203 EYS Health Risk Likely pathogenic —
RS1363644889 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1363648649 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rapadilino syndrome
RS1363652416 TBC1D8B Health Risk Pathogenic Nephrotic syndrome, type 20
RS1363658406 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1363663761 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1363680371 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1363688830 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1363689100 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1363715209 LBR Health Risk Likely pathogenic Pelger-Huët anomaly, Pelger-Huët anomaly
RS1363726955 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1363738186 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1363740679 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1363752047 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1363770105 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy-perceptive deafness syndrome
RS1363776385 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5
RS1363815113 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Exostoses
RS1363836483 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS1363846772 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1363855014 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1363883059 TBXA2R Health Risk Likely pathogenic Bleeding disorder, platelet-type
RS1363884891 CEP76 Health Risk Likely pathogenic Short stature, Short stature
RS1363931577 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1363933594 SEPSECS Health Risk Pathogenic —
RS1363946483 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1363947528 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II
RS1363954556 HAAO Health Risk Likely pathogenic Congenital NAD deficiency disorder, Vertebral
RS1363959441 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1363960054 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1363990917 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS1363997186 SERPING1 Health Risk Likely pathogenic —
RS1364005933 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1364012682 SLC34A1 Health Risk Likely pathogenic —
RS1364027643 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1364032336 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1364033144 NFIB Health Risk Pathogenic/Likely pathogenic Macrocephaly, acquired
RS1364046355 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1364046604 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS1364054304 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1364055998 ADGRV1 Health Risk Pathogenic —
RS1364062389 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1364064979 LOXHD1 Health Risk Pathogenic —
RS1364071684 ADARB1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, microcephaly
RS1364085211 TMTC4 Health Risk Pathogenic Hearing loss, autosomal recessive 122
RS1364087255 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1364101045 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1364156515 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1364192556 PGAP1 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS1364200072 POLE Health Risk Pathogenic —
RS1364203992 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1364210063 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1364214310 USH2A Health Risk Pathogenic —
RS1364222107 ADAR Health Risk Pathogenic ADAR-related disorder, ADAR-related disorder
RS1364238660 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
RS1364240080 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1364255987 ADAMTSL4 Health Risk Likely pathogenic Craniosynostosis with ectopia lentis, Craniosynostosis with ectopia lentis
RS1364256214 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1364280797 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1364297209 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1364300712 SKIC3 Health Risk Likely pathogenic —
RS1364312021 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS1364331716 USH1C Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS1364348923 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1364382189 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS1364396346 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1364421307 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1364430470 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1364436691 IBA57 Health Risk Likely pathogenic —
RS1364444432 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1364461144 LRIG2 Health Risk Likely pathogenic —
RS1364462270 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1364496996 PLP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 2, Inborn genetic diseases
RS1364500207 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1364515992 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1364533250 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1364540701 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1364541592 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1364547914 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial standstill 1, Atrial fibrillation
RS1364550008 TTN;TTN-AS1 Health Risk Likely pathogenic —
RS1364581133 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1364587778 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1364598710 KBTBD13 Health Risk Likely pathogenic Nemaline myopathy 6, Nemaline myopathy 6
RS1364608764 CENPT Health Risk Pathogenic Short stature and microcephaly with genital anomalies, Short stature and microcephaly with genital anomalies
RS1364609203 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1364614470 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS1364618100 PDZD7 Health Risk Pathogenic —
RS1364649058 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1364684686 KLHL41 Health Risk Likely pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS1364690005 ANKRD11 Health Risk Pathogenic KBG syndrome, Global developmental delay
RS1364707671 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1364708195 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1364709483 TBX2 Health Risk Pathogenic/Likely pathogenic TBX2-related disorder, Vertebral anomalies and variable endocrine and T-cell dysfunction
RS1364714267 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1364719732 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS1364738194 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
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