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
RS1085307568 COL4A1 Health Risk Likely pathogenic —
RS1085307573 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism
RS1085307574 NSUN2 Health Risk Likely pathogenic —
RS1085307575 NSUN2 Health Risk Pathogenic —
RS1085307582 CHD7 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1085307584 PHEX Health Risk Pathogenic —
RS1085307587 SACS Health Risk Likely pathogenic —
RS1085307591 TSC2 Health Risk Likely pathogenic —
RS1085307595 JAG1 Health Risk Pathogenic —
RS1085307599 EDA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1085307600 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1085307605 LDLR Health Risk Likely pathogenic —
RS1085307608 COL2A1 Health Risk Pathogenic Heart, malformation of
RS1085307611 SERPING1 Health Risk Pathogenic —
RS1085307612 PTEN Health Risk Pathogenic —
RS1085307614 COL4A1 Health Risk Pathogenic/Likely pathogenic —
RS1085307620 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1085307624 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS1085307626 FAS Health Risk Likely pathogenic —
RS1085307627 KLHL40 Health Risk Likely pathogenic —
RS1085307629 GK Health Risk Pathogenic —
RS1085307630 IQSEC2 Health Risk Likely pathogenic —
RS1085307631 RYR1 Health Risk Pathogenic —
RS1085307633 GATA3 Health Risk Likely pathogenic —
RS1085307634 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type 6
RS1085307635 NDUFAF6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1085307637 ALX4 Health Risk Likely pathogenic —
RS1085307638 ZEB2 Health Risk Likely pathogenic —
RS1085307639 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS1085307640 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1085307641 GATA3 Health Risk Pathogenic/Likely pathogenic Hypoparathyroidism, deafness
RS1085307642 PHEX Health Risk Pathogenic —
RS1085307647 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Inborn genetic diseases
RS1085307648 ACADVL;DVL2 Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS1085307649 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS1085307654 CYP4F22 Health Risk Likely pathogenic —
RS1085307655 KDM5C Health Risk Pathogenic —
RS1085307657 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1085307663 PRDM16 Health Risk Pathogenic Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS1085307665 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
RS1085307666 TSC2 Health Risk Pathogenic —
RS1085307668 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1085307672 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1085307675 GNB5 Health Risk Pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
RS1085307677 NR0B1 Health Risk Pathogenic —
RS1085307678 WAS Health Risk Pathogenic —
RS1085307679 PYCR1 Health Risk Likely pathogenic —
RS1085307685 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1085307689 SHH Health Risk Likely pathogenic —
RS1085307694 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS1085307695 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1085307697 COL6A3 Health Risk Likely pathogenic —
RS1085307702 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1085307703 CSNK2B Health Risk Pathogenic Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome
RS1085307706 PORCN Health Risk Likely pathogenic —
RS1085307707 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS1085307709 COL4A1 Health Risk Pathogenic Microangiopathy and leukoencephalopathy, pontine
RS1085307710 SCN5A Health Risk Likely pathogenic —
RS1085307712 AKT3 Health Risk Likely pathogenic —
RS1085307714 NFIX Health Risk Pathogenic —
RS1085307716 TUBA1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, TUBA1A-related disorder
RS1085307717 ELANE Health Risk Likely pathogenic —
RS1085307719 GNAS Health Risk Pathogenic/Likely pathogenic Disorders of GNAS Inactivation, Disorders of GNAS Inactivation
RS1085307720 RASA1 Health Risk Pathogenic —
RS1085307724 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, Tubulinopathy
RS1085307728 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1085307730 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B
RS1085307733 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1085307734 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1085307736 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1085307738 YARS2 Health Risk Likely pathogenic —
RS1085307741 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial disease
RS1085307743 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1085307744 LARP7 Health Risk Pathogenic —
RS1085307745 NSUN2 Health Risk Pathogenic —
RS1085307746 LARP7 Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS1085307748 EHMT1 Health Risk Pathogenic —
RS1085307750 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1085307751 KMT2B Health Risk Likely pathogenic —
RS1085307752 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1085307753 FOXG1 Health Risk Pathogenic —
RS1085307759 HERC1 Health Risk Likely pathogenic —
RS1085307760 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS1085307762 TSC2 Health Risk Pathogenic —
RS1085307765 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1085307766 CHD2 Health Risk Pathogenic —
RS1085307768 KCNA2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1085307769 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Ventricular septal defect
RS1085307771 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1085307772 KMT2A Health Risk Pathogenic —
RS1085307773 DCC Health Risk Likely pathogenic —
RS1085307775 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1085307776 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1085307777 COL6A3 Health Risk Likely pathogenic —
RS1085307782 SLC6A5 Health Risk Likely pathogenic —
RS1085307783 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1085307785 KCNC1 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1085307786 FBN1 Health Risk Pathogenic —
RS1085307788 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1085307792 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome
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