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
RS878854130 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS878854131 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS878854133 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS878854135 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS878854136 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS878854144 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS878854146 RPL5 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS878854149 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS878854166 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS878854181 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS878854183 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854186 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS878854187 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS878854188 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS878854189 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS878854190 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS878854193 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS878854195 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS878854196 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854203 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854222 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854224 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854225 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854227 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854228 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS878854229 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854231 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854233 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854234 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854236 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854244 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS878854247 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS878854252 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS878854262 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS878854263 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS878854271 TBC1D24 Health Risk Likely pathogenic —
RS878854272 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS878854281 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854290 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854299 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854305 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854315 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854318 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854322 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854324 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854328 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854332 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854335 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS878854339 MPLKIP Health Risk Pathogenic Trichothiodystrophy 4, nonphotosensitive
RS878854340 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS878854341 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS878854342 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS878854343 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS878854344 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS878854345 HOXD13 Health Risk Pathogenic Syndactyly type 5, Synpolydactyly type 1
RS878854346 HOXD13 Health Risk Pathogenic Brachydactyly-syndactyly syndrome, HOXD13-related disorder
RS878854347 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Cardiac arrhythmia
RS878854348 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome
RS878854349 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS878854350 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 1, Long QT syndrome
RS878854351 LRMDA Health Risk Likely pathogenic Oculocutaneous albinism type 7, Oculocutaneous albinism type 7
RS878854352 VMA21 Health Risk Pathogenic X-linked myopathy with excessive autophagy, X-linked myopathy with excessive autophagy
RS878854353 VMA21 Health Risk Pathogenic X-linked myopathy with excessive autophagy, X-linked myopathy with excessive autophagy
RS878854354 VMA21 Health Risk Likely pathogenic X-linked myopathy with excessive autophagy, X-linked myopathy with excessive autophagy
RS878854355 VMA21 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with excessive autophagy, X-linked myopathy with excessive autophagy
RS878854356 VMA21 Health Risk Pathogenic X-linked myopathy with excessive autophagy, X-linked myopathy with excessive autophagy
RS878854357 VMA21 Health Risk Pathogenic X-linked myopathy with excessive autophagy, X-linked myopathy with excessive autophagy
RS878854358 EBP Health Risk Pathogenic CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
RS878854359 EBP Health Risk Pathogenic MEND syndrome, MEND syndrome
RS878854360 PTCHD1 Health Risk risk factor Autism, susceptibility to
RS878854361 PTCHD1 Health Risk risk factor Autism, susceptibility to
RS878854362 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS878854363 TPM2 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 23, Arthrogryposis
RS878854364 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS878854365 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS878854366 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS878854367 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS878854368 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS878854371 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS878854372 TTN Health Risk Likely pathogenic Centronuclear myopathy, Centronuclear myopathy
RS878854373 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS878854374 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Actin accumulation myopathy
RS878854375 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Central core myopathy
RS878854378 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS878854379 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS878854383 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS878854386 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS878854391 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854398 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, COL6A1-related disorder
RS878854400 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS878854401 TBL1XR1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 41
RS878854402 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Malignant lymphoma
RS878854403 ERCC6 Health Risk Pathogenic Premature ovarian failure 11, Premature ovarian failure 11
RS878854404 MAGED2 Health Risk Pathogenic Bartter disease type 5, Bartter disease type 5
RS878854405 MAGED2 Health Risk Pathogenic Bartter disease type 5, Bartter disease type 5
RS878854406 MAGED2 Health Risk Pathogenic Bartter disease type 5, Bartter disease type 5
RS878854407 MAGED2 Health Risk Likely pathogenic Bartter disease type 5, Bartter disease type 5
RS878854408 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS878854409 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878854410 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
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