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
RS1057519303 MAPKBP1 Health Risk Pathogenic Nephronophthisis 20, Nephronophthisis 20
RS1057519304 MAPKBP1 Health Risk Pathogenic Nephronophthisis 20, Nephronophthisis 20
RS1057519305 MAPKBP1 Health Risk Pathogenic Nephronophthisis 20, Nephronophthisis 20
RS1057519306 MAPKBP1 Health Risk Pathogenic Nephronophthisis 20, Nephronophthisis 20
RS1057519307 DENND5A Health Risk Pathogenic Developmental and epileptic encephalopathy, 49
RS1057519308 DENND5A Health Risk Pathogenic Developmental and epileptic encephalopathy, 49
RS1057519310 DENND5A Health Risk Pathogenic Developmental and epileptic encephalopathy, 49
RS1057519311 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1057519312 YME1L1 Health Risk Pathogenic Optic atrophy 11, Optic atrophy 11
RS1057519313 SLC6A9 Health Risk Pathogenic Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS1057519314 SLC6A9 Health Risk Pathogenic Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS1057519315 SLC6A9 Health Risk Pathogenic Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS1057519316 REEP6 Health Risk Likely pathogenic Retinitis pigmentosa 77, Retinitis pigmentosa 77
RS1057519317 REEP6 Health Risk Pathogenic Retinitis pigmentosa 77, Retinitis pigmentosa 77
RS1057519318 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS1057519319 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1057519320 FBN1 Health Risk Likely pathogenic Marfan syndrome, Congenital contractural arachnodactyly
RS1057519321 FBN2 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Congenital contractural arachnodactyly
RS1057519322 NCLN Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS1057519323 NUP98 Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS1057519324 NPR2 Health Risk Pathogenic/Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1057519325 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Coloboma
RS1057519326 MITF Health Risk Pathogenic Coloboma, osteopetrosis
RS1057519327 MITF Health Risk Pathogenic Coloboma, osteopetrosis
RS1057519328 MEFV Health Risk Conflicting classifications of pathogenicity Behcet disease, Familial Mediterranean fever
RS1057519329 ACOX2 Health Risk Pathogenic Congenital bile acid synthesis defect 6, Congenital bile acid synthesis defect 6
RS1057519330 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057519333 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1057519334 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1057519335 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1057519336 NPR2 Health Risk Pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1057519337 AMMECR1 Health Risk Pathogenic Midface hypoplasia, hearing impairment
RS1057519338 AMMECR1 Health Risk Conflicting classifications of pathogenicity Midface hypoplasia, hearing impairment
RS1057519340 CPAMD8 Health Risk Pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
RS1057519341 REEP6 Health Risk Pathogenic Retinitis pigmentosa 77, Retinitis pigmentosa 77
RS1057519342 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Retinal dystrophy
RS1057519343 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1057519344 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1057519347 COQ8B Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 9
RS1057519348 COQ2 Health Risk Likely pathogenic Coenzyme Q10 deficiency, Multiple system atrophy 1
RS1057519349 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS1057519350 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS1057519351 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS1057519354 PDSS1 Health Risk Pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS1057519355 RAD51C Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1057519359 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1057519360 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1057519361 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1057519362 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1057519363 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1057519364 ATM Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Ataxia-telangiectasia syndrome
RS1057519365 BRIP1 Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1057519366 FANCC Health Risk Pathogenic/Likely pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1057519367 REV3L Health Risk Likely pathogenic Carcinoma of colon, Carcinoma of colon
RS1057519368 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, PTEN hamartoma tumor syndrome
RS1057519369 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1057519370 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1057519371 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1057519374 SEMA3D Health Risk Pathogenic Progressive sensorineural hearing impairment, SEMA3D-related disorder
RS1057519375 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1057519376 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1057519377 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1057519378 CARD10 Health Risk risk factor Primary open angle glaucoma, Primary open angle glaucoma
RS1057519379 CTNNB1 Health Risk Pathogenic Exudative vitreoretinopathy 1, Severe intellectual disability-progressive spastic diplegia syndrome
RS1057519380 CTNNB1 Health Risk Pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 7
RS1057519381 MED12 Health Risk Likely pathogenic FG syndrome 1, FG syndrome 1
RS1057519383 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1057519384 CDC73 Health Risk Pathogenic Ossifying fibroma of the jaw, Ossifying fibroma of the jaw
RS1057519385 CDC73 Health Risk Pathogenic Ossifying fibroma of the jaw, Ossifying fibroma of the jaw
RS1057519389 EBF3 Health Risk Pathogenic Ataxia, Intellectual disability
RS1057519392 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1057519393 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1057519394 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS1057519395 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS1057519396 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS1057519398 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1057519399 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1057519400 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1057519402 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1057519403 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1057519404 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS1057519405 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1057519406 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS1057519407 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1057519408 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1057519413 RAD51 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group R, RAD51-related disorder
RS1057519414 NDUFA10 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 22
RS1057519415 NDUFA10 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 22
RS1057519416 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS1057519417 TMTC3 Health Risk Pathogenic Lissencephaly 8, Lissencephaly 8
RS1057519418 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1057519419 CDC73 Health Risk Likely pathogenic Hyperparathyroidism 1, Parathyroid carcinoma
RS1057519420 HSD17B4 Health Risk Likely pathogenic —
RS1057519422 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1057519423 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1057519424 PLPBP Health Risk Pathogenic Epilepsy, early-onset
RS1057519425 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1057519426 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS1057519427 REEP6 Health Risk Pathogenic Retinitis pigmentosa 77, Retinitis pigmentosa 77
RS1057519429 CACNA1A Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, Intellectual disability
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