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
RS1565825132 TBK1 Health Risk Likely pathogenic Primary progressive non fluent aphasia, Corticobasal syndrome
RS1565826250 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1565827171 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS1565829821 AMHR2 Health Risk Pathogenic —
RS1565831817 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disorder
RS1565832049 VWF Health Risk Pathogenic VWF-related disorder, VWF-related disorder
RS1565832072 VWF Health Risk Likely pathogenic —
RS1565832211 VWF Health Risk Pathogenic —
RS1565835538 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Joubert syndrome
RS1565838728 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS1565842203 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1565846034 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1565846764 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1565846805 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1565846863 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1565846899 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1565848061 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1565848110 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1565853495 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS1565853526 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1565855932 PTPRQ Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1565858163 TBX3 Health Risk Pathogenic Ulnar-mammary syndrome, Ulnar-mammary syndrome
RS1565859132 ERBB3 Health Risk Likely pathogenic Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2
RS1565864693 MYF5 Health Risk Pathogenic External ophthalmoplegia, Scoliosis
RS1565866547 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1565868973 TRPV4 Health Risk Pathogenic Metatropic dysplasia, Metatropic dysplasia
RS1565869918 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS1565870990 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS1565878932 KRAS Health Risk Pathogenic —
RS1565880245 HNF1A Health Risk Likely risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1565883507 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1565883574 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1565885524 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1565885935 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1565886545 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1565886685 SCN8A Health Risk Pathogenic Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS1565887211 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1565887701 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS1565893138 POLR3B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1565896447 SMARCC2 Health Risk Pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS1565898123 RXYLT1 Health Risk Likely pathogenic —
RS1565899657 RXYLT1 Health Risk Pathogenic —
RS1565899712 RXYLT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1565903353 SMARCC2 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS1565903367 SMARCC2 Health Risk Pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS1565908565 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1565909334 CUX2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 67
RS1565912409 CFAP251 Health Risk Pathogenic Spermatogenic failure 33, Reduced sperm motility
RS1565915356 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1565917697 SCN8A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS1565917769 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS1565917836 SMARCC2 Health Risk Pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS1565920060 OTOGL Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1565921326 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease
RS1565922388 SYT1 Health Risk Pathogenic/Likely pathogenic SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS1565922395 SYT1 Health Risk Pathogenic/Likely pathogenic SYT1-associated neurodevelopmental disorder, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS1565923488 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565923537 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565923835 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1565923863 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565923887 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565925940 SCN8A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1565926679 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565927314 POLE Health Risk Pathogenic —
RS1565927614 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565927645 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565927664 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565927673 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565927740 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565927747 TBX5 Health Risk Pathogenic Aortic valve disease 2, Holt-Oram syndrome
RS1565927794 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565927906 TBX5 Health Risk Pathogenic —
RS1565928374 POLE Health Risk Pathogenic —
RS1565928712 POLE Health Risk Pathogenic —
RS1565929080 HSPB8 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1565929090 HSPB8 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2L, Charcot-Marie-Tooth disease
RS1565930588 HSPB8 Health Risk Likely pathogenic Distal myopathy, Distal myopathy
RS1565933220 POLE Health Risk Pathogenic —
RS1565933795 SCN8A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1565934070 SCN8A Health Risk Pathogenic Myoclonus, familial
RS1565934531 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1565935314 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935345 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935383 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935397 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935405 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Aortic valve disease 2
RS1565935410 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935426 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935432 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935458 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565935966 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565936576 POLE Health Risk Likely pathogenic —
RS1565936691 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1565937687 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565938304 POLE Health Risk Pathogenic —
RS1565938547 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565938933 POLE Health Risk Conflicting classifications of pathogenicity —
RS1565938943 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565939204 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1565939215 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Aortic valve disease 2
« Prev 1 ... 991 992 993 994 995 996 997 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →