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
RS1004620245 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1004640402 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, COL4A1-related disorder
RS1004649901 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1004651681 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS1004658892 FITM2 Health Risk Pathogenic Siddiqi syndrome, Siddiqi syndrome
RS1004772663 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Oto-palato-digital syndrome
RS1004775935 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1004779078 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1004855056 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
RS1004898711 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1004936255 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1004943548 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1004968910 SHOC1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 75, SHOC1-related condition
RS1004972253 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS1004988273 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS1005010589 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1005025657 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS1005027685 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1005040113 TLR3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS1005071009 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1005081558 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1005082526 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1005120343 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1005130980 CERKL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS1005167119 DTYMK Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1005167452 MCM3AP Health Risk Likely pathogenic —
RS1005235415 USH2A Health Risk Pathogenic —
RS1005244744 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1005250117 ALPL Health Risk Likely pathogenic —
RS1005271380 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1005334519 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1005361810 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1005382525 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS1005389790 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1005396685 SLC12A6 Health Risk Conflicting classifications of pathogenicity —
RS1005444925 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1005458732 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS1005463281 OBSCN Health Risk Likely pathogenic —
RS1005498417 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1005521110 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1005542482 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS1005543441 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS1005550058 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS1005568368 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1005570619 PTPRQ Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS1005618432 CDK13 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1005670966 AFG3L2 Health Risk Conflicting classifications of pathogenicity —
RS1005686810 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1005687078 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1005694756 OTOF Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1005703927 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1005714777 WFS1 Health Risk Uncertain significance/Uncertain risk allele Monogenic diabetes, Wolfram syndrome 1
RS1005731602 THPO Health Risk Likely pathogenic —
RS1005738588 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1005753 PADI2 Health Risk association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS1005792910 ACE Health Risk Pathogenic/Likely pathogenic Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS1005810029 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1005844306 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1005850234 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1005852754 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1005930319 SZT2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 18
RS1005934435 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1005937012 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS1005957166 EDARADD Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type
RS1005962230 ATF6 Health Risk Pathogenic —
RS1005998005 MANF Health Risk Likely pathogenic Diabetes, deafness
RS1006014823 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS1006015882 HSPA9 Health Risk Likely pathogenic —
RS1006060877 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1006063188 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C
RS1006097259 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1006109370 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS1006150317 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1006158872 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1006218944 ANO6 Health Risk Likely pathogenic Malignant tumor of esophagus, Malignant tumor of esophagus
RS1006236175 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1006246556 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS1006249036 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS1006261196 TRMU Health Risk Conflicting classifications of pathogenicity —
RS1006276729 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1006294051 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1006328489 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1006352232 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1006357203 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1006366530 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1006368552 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1006397889 SMAD6 Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis, Craniosynostosis 7
RS1006425986 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1006433886 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1006435630 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS1006463439 NOBOX Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS1006465697 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Autism spectrum disorder
RS1006524651 LMAN1 Health Risk Pathogenic Factor V and factor VIII, combined deficiency of
RS1006530719 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1006561792 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1006611330 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS10066808 HCN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 24
RS1006687669 SMO Health Risk Pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS10066882 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1006688520 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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