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
RS587777271 CPOX Health Risk Pathogenic Harderoporphyria, Harderoporphyria
RS587777272 SLC7A14 Health Risk Pathogenic Retinitis pigmentosa 68, Retinitis pigmentosa 68
RS587777273 SLC7A14 Health Risk Pathogenic Retinitis pigmentosa 68, Retinitis pigmentosa 68
RS587777274 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS587777275 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS587777276 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS587777277 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS587777278 BCS1L Health Risk Pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS587777279 ITGA8 Health Risk Pathogenic/Likely pathogenic Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1
RS587777280 ITGA8 Health Risk Pathogenic Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1
RS587777282 FGF20 Health Risk Pathogenic Renal hypodysplasia/aplasia 2, Renal hypodysplasia/aplasia 2
RS587777283 TSPAN12 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS587777284 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS587777285 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS587777286 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS587777287 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS587777288 GSC Health Risk Pathogenic Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
RS587777289 GSC Health Risk Pathogenic Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
RS587777290 GSC Health Risk Pathogenic Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
RS587777292 KRT6C Health Risk Pathogenic/Likely pathogenic Palmoplantar keratoderma, nonepidermolytic
RS587777293 POGLUT1 Health Risk Pathogenic/Likely pathogenic Dowling-Degos disease 4, Dowling-Degos disease 4
RS587777294 POGLUT1 Health Risk Pathogenic Dowling-Degos disease 4, Dowling-Degos disease 4
RS587777295 POGLUT1 Health Risk Pathogenic Dowling-Degos disease 4, Dowling-Degos disease 4
RS587777296 POGLUT1 Health Risk Pathogenic Dowling-Degos disease 4, Dowling-Degos disease 4
RS587777298 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome
RS587777299 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome
RS587777303 TBXT Health Risk Pathogenic Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
RS587777305 MBTPS2 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS587777306 MBTPS2 Health Risk Pathogenic Olmsted syndrome, X-linked
RS587777307 GABRA1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19
RS587777308 GABRA1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 19
RS587777309 GABRA1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19
RS587777310 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS587777312 ADGRG1 Health Risk Pathogenic/Likely pathogenic Polymicrogyria, bilateral perisylvian
RS587777314 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS587777315 SPG21 Health Risk Pathogenic Mast syndrome, Mast syndrome
RS587777316 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS587777317 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS587777318 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS587777320 GUCY1A1 Health Risk Pathogenic/Likely pathogenic Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
RS587777321 GUCY1A1 Health Risk Pathogenic Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
RS587777322 GUCY1A1 Health Risk Pathogenic Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
RS587777323 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS587777325 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS587777326 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability
RS587777327 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS587777328 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS587777329 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS587777330 TRAPPC2 Health Risk Pathogenic Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS587777331 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder
RS587777332 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS587777333 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS587777334 QARS1 Health Risk Pathogenic/Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Intellectual disability
RS587777335 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS587777336 KCNA5 Health Risk Pathogenic Atrial fibrillation, familial
RS587777337 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS587777338 IL21 Health Risk Pathogenic IL21-related infantile inflammatory bowel disease, IL21-related infantile inflammatory bowel disease
RS587777339 NUP155 Health Risk Pathogenic Atrial fibrillation, familial
RS587777340 STUB1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS587777341 STUB1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS587777342 STUB1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS587777343 STUB1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48
RS587777344 STUB1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS587777345 STUB1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS587777346 STUB1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS587777347 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Spinocerebellar ataxia 48
RS587777348 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS587777349 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS587777350 WDR19 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS587777351 WDR19 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 13, Senior-Loken syndrome 8
RS587777352 WDR19 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Jeune thoracic dystrophy
RS587777354 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS587777355 TUBB Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 6, Inborn genetic diseases
RS587777356 TUBB Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 6, TUBB-related disorder
RS587777357 TUBB Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 6, Inborn genetic diseases
RS587777358 ZMYM3 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, X-linked 112
RS587777359 DLG3 Health Risk Pathogenic Intellectual disability, X-linked 90
RS587777360 DLG3 Health Risk Pathogenic Intellectual disability, X-linked 90
RS587777361 GRIA3 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability 94, Intellectual disability
RS587777362 ZP1 Health Risk Pathogenic Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
RS587777363 GABRA1 Health Risk risk factor Epilepsy, idiopathic generalized
RS587777364 GABRA1 Health Risk risk factor Epilepsy, idiopathic generalized
RS587777365 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS587777366 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS587777368 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 1
RS587777369 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS587777370 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS587777371 NR2F2 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS587777372 NR2F2 Health Risk Pathogenic Congenital heart defects, multiple types
RS587777374 NR2F2 Health Risk Pathogenic Congenital heart defects, multiple types
RS587777375 GYS1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS587777376 KIZ Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 69, Retinitis pigmentosa 69
RS587777377 KIZ Health Risk Pathogenic Retinitis pigmentosa 69, Retinal dystrophy
RS587777378 PGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 42
RS587777379 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS587777380 DYRK1B Health Risk Pathogenic Abdominal obesity-metabolic syndrome 3, Abdominal obesity-metabolic syndrome 3
RS587777381 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS587777382 VPS13B Health Risk Pathogenic Cohen syndrome, Ovarian serous cystadenocarcinoma
RS587777383 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Chronic intestinal pseudoobstruction
RS587777384 ACTG2 Health Risk Pathogenic Visceral myopathy 1, Inborn genetic diseases
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