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
RS115347245 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS115350461 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS115352435 GPT2 Health Risk Pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS115352681 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 12
RS115353159 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS115356583 RDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leber congenital amaurosis 13
RS115361039 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS115361843 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS115365142 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS115369552 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS115369710 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS115372194 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS115374113 RREB1 Health Risk Conflicting classifications of pathogenicity —
RS115376031 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS11537641 SLC2A1 Health Risk Pathogenic Hereditary cryohydrocytosis with reduced stomatin, Dystonia 9
RS115379510 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS11537982 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS115383424 SLC26A2 Health Risk Conflicting classifications of pathogenicity Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II
RS115386788 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS11538758 PRNP Health Risk Pathogenic Gerstmann-Straussler-Scheinker syndrome, Inborn genetic diseases
RS115388824 CDHR1 Health Risk Conflicting classifications of pathogenicity CDHR1-related disorder, Inborn genetic diseases
RS11539201 PDHX Health Risk Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS11539374 CHM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS11539445 YARS2 Health Risk Pathogenic Myopathy, lactic acidosis
RS115395163 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115398922 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, CDH23-related disorder
RS115399307 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder
RS11540012 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS115401566 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS115401779 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS115403785 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS11540652 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS11540654 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS11540674 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS115407315 TRMT5 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 26, TRMT5-related disorder
RS115407852 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS115408226 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS11540833 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS11540836 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS11540945 ATP1A1 Health Risk Pathogenic Aldosterone-producing adrenal cortex adenoma, Aldosterone-producing adrenal cortex adenoma
RS115411592 CERS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115413295 GALM Health Risk Pathogenic Galactosemia 4, Galactosemia 4
RS11541790 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS11541793 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS11541795 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS11541796 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS11541797 TTR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS11541799 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS11541859 MLH1 Health Risk Pathogenic Lynch syndrome, Colorectal cancer
RS115418995 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS11541998 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS115421171 SPG21 Health Risk Conflicting classifications of pathogenicity Mast syndrome, Mast syndrome
RS11542130 TWNK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS115423919 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS11542638 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS11542641 TMEM165 Health Risk Conflicting classifications of pathogenicity TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS11542768 NSD1 Health Risk Likely pathogenic —
RS11542920 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS11543022 PLP1 Health Risk Pathogenic/Likely pathogenic Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
RS115431256 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS115431683 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Inborn genetic diseases
RS11543268 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS115436575 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS115438635 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS115440602 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS11544222 POLR3F Health Risk Pathogenic Immunodeficiency 101 (varicella zoster virus-specific), Immunodeficiency 101 (varicella zoster virus-specific)
RS11544299 MVK Health Risk Pathogenic Hyperimmunoglobulin D with periodic fever, Porokeratosis 3
RS115444326 ALMS1 Health Risk Pathogenic Monogenic diabetes, Alstrom syndrome
RS115444936 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS11544631 PIBF1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 33, Joubert syndrome 33
RS11544658 MECR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115446826 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS11544803 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
RS115448299 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS11544970 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS11545029 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS11545196 TIMM50 Health Risk Conflicting classifications of pathogenicity TIMM50-related disorder, Inborn genetic diseases
RS11545230 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS115452881 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS11545341 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS11545431 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS115455318 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS11545654 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS11545655 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS11545656 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS11545658 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS11545695 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS11545907 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS115466046 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Intellectual disability
RS115466520 SPTA1 Health Risk Conflicting classifications of pathogenicity SPTA1-related disorder, SPTA1-related disorder
RS115466792 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS115466882 PODXL Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases
RS11546829 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS11546842 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS11546934 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS11547168 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS11547328 CDK4 Health Risk Pathogenic Melanoma, cutaneous malignant
RS11547391 H3-3B Health Risk Likely pathogenic —
RS11547464 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS11547480 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, COQ9-related disorder
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