SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS996476189 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS996483189 HTRA1 Health Risk Conflicting classifications of pathogenicity Macular degeneration, Macular degeneration
RS996493095 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS996509493 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS996571214 PPM1D Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS996591962 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS996614468 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS996638473 FSIP2 Health Risk Conflicting classifications of pathogenicity —
RS996650766 BRSK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS996675923 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS996732250 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS996766896 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS996798292 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS996812877 SLC25A3 Health Risk Pathogenic —
RS996840274 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS996858935 ADCY10 Health Risk Likely pathogenic —
RS996929151 ATG9B Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS996949678 EFTUD2 Health Risk Pathogenic See cases, Mandibulofacial dysostosis-microcephaly syndrome
RS996964764 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS996995845 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS997014833 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS997021099 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS997044541 UBE3A Health Risk Pathogenic Angelman syndrome, Intellectual disability
RS997047045 FUCA1 Health Risk Pathogenic/Likely pathogenic Fucosidosis, Fucosidosis
RS997074986 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Thyroid cancer
RS997085898 RP1 Health Risk Pathogenic —
RS997104313 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Drash syndrome
RS997111087 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS997194150 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS997204610 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS997235832 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS997282049 C14orf39 Health Risk Pathogenic Spermatogenic failure 52, Non-obstructive azoospermia
RS997313077 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS997313713 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS997329230 MEF2C Health Risk Conflicting classifications of pathogenicity —
RS997338018 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS997339959 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS997363236 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS997408852 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 4
RS997425993 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, VPS33B-related disorder
RS997489824 EYS Health Risk Pathogenic —
RS997493451 TTI1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly and movement abnormalities, Neurodevelopmental disorder with microcephaly and movement abnormalities
RS997533180 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS997535105 NEFH Health Risk Conflicting classifications of pathogenicity —
RS997563069 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS997565505 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS997566626 COL9A2 Health Risk Conflicting classifications of pathogenicity —
RS997586826 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS997653455 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS997655691 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS997666144 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS997831285 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Usher syndrome type 2C
RS997840503 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS997841253 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS997841591 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS997846742 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS997855293 FMO3 Health Risk Pathogenic —
RS997877536 GCK Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinism due to glucokinase deficiency
RS997878946 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS997884133 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS997921403 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS997927277 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS997930135 PYCR2 Health Risk Pathogenic —
RS997949050 ATP2C1 Health Risk Likely pathogenic Familial benign pemphigus, Familial benign pemphigus
RS997951552 TRIOBP Health Risk Pathogenic —
RS997965581 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS997979656 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS998033323 WNT5A Health Risk Conflicting classifications of pathogenicity —
RS998036326 TG Health Risk Likely pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS998045226 GJB2 Health Risk Pathogenic/Likely pathogenic Hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
RS998073430 GIPC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS998162536 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS998174759 MYCN Health Risk Likely pathogenic —
RS998186339 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Lynch syndrome
RS998194428 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS998200637 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS998203463 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Inborn genetic diseases
RS998208177 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS998233805 BRAF Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 1, RASopathy
RS998278975 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS998297769 GABRE Health Risk Pathogenic Short stature, Short stature
RS998302546 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome
RS998320959 SOX5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS998329815 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS998337367 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS998353408 QARS1 Health Risk Likely pathogenic —
RS998362250 EMC1 Health Risk Likely pathogenic —
RS998363634 ABCA4 Health Risk Likely pathogenic —
RS998365223 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS998387579 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS998397847 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS998433493 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS998456008 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS998489108 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Inborn genetic diseases
RS998498095 PPP1R21 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS998498207 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS998501847 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS998505687 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS998539254 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Wolfram syndrome 1
RS998559953 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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