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
RS1045096306 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spinocerebellar ataxia
RS1045097916 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1045109000 CYP4F22 Health Risk Pathogenic —
RS1045111596 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS1045118320 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases
RS1045124261 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS1045133170 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS1045163391 ABCA4 Health Risk Pathogenic —
RS1045182796 TGM5 Health Risk Likely pathogenic Acral peeling skin syndrome, Acral peeling skin syndrome
RS1045194246 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1045195933 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS1045215677 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1045239575 SREBF1 Health Risk Likely pathogenic Hereditary mucoepithelial dysplasia, Hereditary mucoepithelial dysplasia
RS1045263586 FBXW11 Health Risk Conflicting classifications of pathogenicity —
RS1045330263 COL2A1 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS1045333933 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1045370021 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1045381049 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS1045382698 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS1045404649 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1045409136 B3GALNT2 Health Risk Likely pathogenic —
RS1045410944 TMEM240 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 21, Inborn genetic diseases
RS1045459966 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1045476042 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1045490638 RP1L1 Health Risk Likely pathogenic —
RS1045491786 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1045493304 GABRG2 Health Risk Pathogenic/Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1045606047 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Developmental and epileptic encephalopathy
RS1045629648 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS1045644394 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1045653050 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS1045675831 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1045735640 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1045789152 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1045819255 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS10458342 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia
RS1045875195 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1045881797 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1045912447 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1045921265 TECTA Health Risk Pathogenic —
RS1045933779 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1045935059 HUWE1 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Inborn genetic diseases
RS1045938367 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1045939403 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1045944675 PCBD1 Health Risk Conflicting classifications of pathogenicity Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS1045950607 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1045951380 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS1045996745 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1045996985 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1046022647 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1046046139 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1046080253 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1046130813 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1046139839 PIEZO1 Health Risk Pathogenic —
RS1046152089 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS1046172136 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1046172334 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1046174429 TBXAS1 Health Risk Pathogenic —
RS1046295138 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1046304919 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1046320257 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1046338903 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1046363034 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS1046385111 TCTN3 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS1046422222 SLX4 Health Risk Likely pathogenic —
RS1046522975 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1046550021 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1046551417 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1046560765 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1046564488 FANCF Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1046576892 SLC5A1 Health Risk Likely pathogenic SLC5A1-related disorder, SLC5A1-related disorder
RS1046584167 ERCC6 Health Risk Pathogenic —
RS1046611742 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1046633404 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1046663771 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1046670041 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1046674759 B3GAT3 Health Risk Likely pathogenic Larsen-like syndrome, B3GAT3 type
RS1046738327 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with movement abnormalities, abnormal gait
RS1046756662 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1046787337 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1046789934 ERCC6L2 Health Risk Pathogenic —
RS1046799192 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1046843624 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1046881798 USH2A Health Risk Pathogenic —
RS1046891783 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1046917367 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Inborn genetic diseases
RS1046929915 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1046932020 ATN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1046932119 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS1046972573 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1046984 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1046987961 ESPN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS1046992728 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1047016771 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1047016803 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS1047075022 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1047077710 CD40 Health Risk Likely pathogenic —
RS1047102588 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1047137544 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1047199277 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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