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
RS1064796328 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1064796330 MTR Health Risk Likely pathogenic —
RS1064796331 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1064796332 COL2A1 Health Risk Pathogenic —
RS1064796335 OTC Health Risk Likely pathogenic —
RS1064796337 ITPR1 Health Risk Pathogenic —
RS1064796339 ADNP Health Risk Pathogenic —
RS1064796340 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS1064796341 COL1A1 Health Risk Likely pathogenic —
RS1064796343 SCN1A Health Risk Pathogenic —
RS1064796344 CASK Health Risk Pathogenic/Likely pathogenic FG syndrome 4, Syndromic X-linked intellectual disability Najm type
RS1064796347 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796348 SETD5 Health Risk Pathogenic —
RS1064796350 PLP1 Health Risk Likely pathogenic —
RS1064796353 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1064796360 CCDC39 Health Risk Pathogenic —
RS1064796364 DDX3X Health Risk Pathogenic —
RS1064796365 KCNQ4 Health Risk Pathogenic/Likely pathogenic Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS1064796367 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, Complex neurodevelopmental disorder
RS1064796370 HSPB1 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS1064796373 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1064796375 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064796377 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Myopathy
RS1064796380 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796381 EFTUD2 Health Risk Likely pathogenic —
RS1064796382 DDX3X Health Risk Pathogenic —
RS1064796384 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1064796389 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796390 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796391 PHEX Health Risk Likely pathogenic —
RS1064796394 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1064796397 KNL1 Health Risk Likely pathogenic —
RS1064796398 MRAP Health Risk Likely pathogenic MRAP-related disorder, MRAP-related disorder
RS1064796399 SETD5 Health Risk Pathogenic —
RS1064796402 SLC34A3 Health Risk Pathogenic —
RS1064796403 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1064796406 DYRK1A Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1064796407 DEAF1 Health Risk Likely pathogenic —
RS1064796408 VHL Health Risk Pathogenic/Likely pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1064796409 PURA Health Risk Likely pathogenic —
RS1064796410 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1064796411 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064796413 FGFR2 Health Risk Likely pathogenic —
RS1064796415 COL1A1 Health Risk Pathogenic —
RS1064796419 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1064796420 FOXF1 Health Risk Likely pathogenic —
RS1064796421 SRD5A3 Health Risk Pathogenic —
RS1064796422 ABAT Health Risk Likely pathogenic —
RS1064796429 DDX3X Health Risk Pathogenic —
RS1064796433 KANSL1 Health Risk Pathogenic —
RS1064796434 PHEX Health Risk Pathogenic —
RS1064796435 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1064796436 PHEX Health Risk Pathogenic —
RS1064796438 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1064796448 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1064796449 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Intellectual disability
RS1064796451 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS1064796452 FGFR2 Health Risk Likely pathogenic —
RS1064796453 CTNNB1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Severe intellectual disability-progressive spastic diplegia syndrome
RS1064796457 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1064796460 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS1064796464 CCDC88C Health Risk Pathogenic/Likely pathogenic —
RS1064796468 COL3A1 Health Risk Likely pathogenic —
RS1064796469 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS1064796470 TNFAIP3 Health Risk Pathogenic —
RS1064796471 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064796472 SON Health Risk Pathogenic Inborn genetic diseases, ZTTK syndrome
RS1064796473 MBD5 Health Risk Likely pathogenic —
RS1064796474 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1064796476 LHCGR Health Risk Likely pathogenic —
RS1064796479 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1064796481 NIPBL Health Risk Pathogenic —
RS1064796483 MYH3 Health Risk Likely pathogenic —
RS1064796486 BCS1L Health Risk Conflicting classifications of pathogenicity Neuromuscular disease, Neuromuscular disease
RS1064796488 CASK Health Risk Pathogenic —
RS1064796492 NFIA Health Risk Likely pathogenic —
RS1064796494 CTNND2 Health Risk Likely pathogenic —
RS1064796495 MORC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS1064796496 CHD2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy 94
RS1064796497 LRP2 Health Risk Likely pathogenic —
RS1064796499 COL1A1 Health Risk Pathogenic —
RS1064796500 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1064796502 CLN3 Health Risk Likely pathogenic —
RS1064796503 CDKL5 Health Risk Pathogenic —
RS1064796508 HERC1 Health Risk Likely pathogenic —
RS1064796510 STIL Health Risk Pathogenic —
RS1064796511 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1064796512 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1064796514 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS1064796516 RYR2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia
RS1064796517 HDAC8 Health Risk Likely pathogenic —
RS1064796522 FBN1 Health Risk Pathogenic —
RS1064796526 SHANK3 Health Risk Pathogenic —
RS1064796528 SHANK3 Health Risk Likely pathogenic —
RS1064796530 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1064796531 CREBBP Health Risk Likely pathogenic —
RS1064796533 SLC6A1 Health Risk Pathogenic —
RS1064796535 KCNQ2 Health Risk Likely pathogenic —
RS1064796538 TCF4 Health Risk Pathogenic —
RS1064796540 PHEX Health Risk Pathogenic/Likely pathogenic —
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