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
RS200598776 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS200598971 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARHGAP31-related disorder
RS200598979 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS200599265 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS200599406 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS200599637 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS200599704 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, PLA2G6-associated neurodegeneration
RS200599820 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS200599852 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS200599944 FAM20A;PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Inborn genetic diseases
RS200600001 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS200600070 SPINT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200600174 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS200600259 RTTN Health Risk Conflicting classifications of pathogenicity RTTN-related disorder, RTTN-related disorder
RS200600434 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS200600577 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 30
RS200601081 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Ovarian cancer
RS200601314 NELL1 Health Risk Conflicting classifications of pathogenicity —
RS200601567 NBAS Health Risk Conflicting classifications of pathogenicity —
RS200601717 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS200601767 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS200601781 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS200602134 TRPV4 Health Risk Conflicting classifications of pathogenicity Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia
RS200603300 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS200603439 TBC1D32 Health Risk Pathogenic/Likely pathogenic Hypopituitarism, Ciliopathy
RS200603552 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS200603610 SLC25A22 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental delay
RS200603619 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200603698 MAP4K4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200603754 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS200604652 NRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 6, RASopathy
RS200605042 SCO2 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS200605212 ITPR1 Health Risk Conflicting classifications of pathogenicity ITPR1-related disorder, ITPR1-related disorder
RS200605306 RAD18 Health Risk Conflicting classifications of pathogenicity —
RS200605351 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS200605408 ALG1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS200605515 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS200605669 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS200605749 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS200605865 RUSC2 Health Risk Conflicting classifications of pathogenicity —
RS200605909 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Inborn genetic diseases
RS200605932 XPO5 Health Risk Conflicting classifications of pathogenicity XPO5-related disorder, XPO5-related disorder
RS200606123 CHMP1A Health Risk Conflicting classifications of pathogenicity —
RS200606656 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS200606803 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Connective tissue disorder
RS200606811 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS200606989 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS200606995 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200607029 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
RS200607251 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS200607707 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS200608265 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS200608284 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS200608452 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS200608722 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS200608775 F9 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Thrombophilia
RS200608915 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200609323 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS200609501 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS200610057 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS200610099 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS200610141 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS200610530 RIPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200610689 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS200610828 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS200611081 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS200611311 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200611452 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS200611519 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS200611521 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200611702 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS200612497 RABL3 Health Risk risk factor Pancreatic cancer, susceptibility to
RS200612600 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS200612739 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200613371 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS200614048 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, CDON-related disorder
RS200614421 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS200614765 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS200614903 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200615045 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS200615101 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS200615225 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200615848 FLNA Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 2
RS200616409 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS200616542 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS200616712 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS200616920 NDST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS200617745 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS200618210 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS200618217 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200618289 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200618360 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS200618384 PRUNE1 Health Risk Likely pathogenic Abnormal brain morphology, Neurodevelopmental disorder with microcephaly
RS200618482 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS200619215 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Familial cancer of breast
RS200619561 SPATA31A6 Health Risk Conflicting classifications of pathogenicity —
RS200619976 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS200619983 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS200620134 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Neonatal severe primary hyperparathyroidism
RS200620268 SATB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
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