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
RS146257701 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1462578042 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1462584619 KAT6B Health Risk Pathogenic —
RS1462593526 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases
RS1462595806 DSG4 Health Risk Pathogenic Hypotrichosis 6, Hypotrichosis 6
RS146260335 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS1462607878 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 11
RS146260899 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS146261351 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS146261631 NOP10 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 1
RS146262009 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Spastic paraplegia
RS1462628095 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1462634271 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS146264035 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, ARL13B-related disorder
RS146264153 TMEM138 Health Risk Pathogenic Joubert syndrome 16, Joubert syndrome 16
RS1462645325 B9D1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS146264950 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS146265553 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, Inborn genetic diseases
RS1462658824 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1462659024 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS1462660984 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS146266448 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS146266992 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS146267300 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Glutathione synthetase deficiency with 5-oxoprolinuria
RS146267408 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS1462676823 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146267697 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS146269871 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS146269992 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS1462707634 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1462711090 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS146271578 UBR1 Health Risk Conflicting classifications of pathogenicity —
RS146271715 CRB2 Health Risk Conflicting classifications of pathogenicity CRB2-related disorder, CRB2-related disorder
RS146272145 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS146272618 FKTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS1462728426 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS146273185 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS146273214 CSGALNACT1 Health Risk Conflicting classifications of pathogenicity —
RS146273341 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1462734899 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1462738297 DGKE Health Risk Pathogenic —
RS146274588 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS146274964 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS146275216 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Intellectual disability
RS1462754046 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS146275785 NEBL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS1462766132 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS146276662 SDHD Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome
RS1462767117 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS146277116 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer
RS146277144 KCNAB2 Health Risk Conflicting classifications of pathogenicity KCNAB2-related disorder, KCNAB2-related disorder
RS146277966 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS146278035 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS146279300 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, TTBK2-related disorder
RS146279858 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Inborn genetic diseases
RS146280032 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Inborn genetic diseases
RS146280056 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Inborn genetic diseases
RS146280178 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, Spinocerebellar ataxia 45
RS1462805697 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS146280653 ETV6 Health Risk Conflicting classifications of pathogenicity ETV6-related disorder, Inborn genetic diseases
RS146281367 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1462821802 PNKP Health Risk Likely pathogenic —
RS146282466 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS146282855 TALDO1 Health Risk Conflicting classifications of pathogenicity Deficiency of transaldolase, Inborn genetic diseases
RS1462829116 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1462841170 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Visceral myopathy 1
RS146284370 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, NDE1-related microhydranencephaly
RS146284515 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS146284716 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1462849002 TMC8 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1462851267 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Inborn genetic diseases
RS146286285 PMPCA Health Risk Conflicting classifications of pathogenicity PMPCA-related disorder, PMPCA-related disorder
RS1462863412 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS146286415 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS146286491 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS1462868950 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS146286958 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS146287182 TULP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS146288080 PRKN Health Risk Conflicting classifications of pathogenicity Uterine carcinosarcoma, Uterine carcinosarcoma
RS146288748 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS146289210 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS146289365 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS146289506 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS146289653 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS146290709 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS146291186 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS146291374 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1462915298 OTOG Health Risk Pathogenic —
RS146292819 ABCA1 Health Risk Pathogenic/Likely pathogenic ABCA1-related disorder, Hypoalphalipoproteinemia
RS1462929012 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1462934469 GNAT2 Health Risk Pathogenic —
RS146293474 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Inborn genetic diseases
RS146293544 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS146293727 TG Health Risk Likely pathogenic —
RS146294483 ANKRD11 Health Risk Pathogenic ANKRD11-related disorder, ANKRD11-related disorder
RS1462948301 OGDHL Health Risk Pathogenic Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
RS1462955256 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS1462960034 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS146296049 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Inborn genetic diseases
RS146296069 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8
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