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
RS397515405 KCNT1 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS397515406 KCNT1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS397515407 KCNT1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS397515408 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS397515410 HARS2 Health Risk Likely pathogenic Perrault syndrome 2, Perrault syndrome
RS397515411 CIB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 48, Hearing loss
RS397515412 CIB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 48, Autosomal recessive nonsyndromic hearing loss 48
RS397515413 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS397515414 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS397515415 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Inborn genetic diseases
RS397515416 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS397515417 HDAC8 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 5, Inborn genetic diseases
RS397515418 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS397515419 PEX11B Health Risk Pathogenic Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
RS397515420 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS397515421 RMND1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 11, Mitochondrial disease
RS397515422 MYBPC1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 4, Myopathy
RS397515423 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS397515424 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS397515425 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS397515426 CHMP1A Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 8, CHMP1A-related disorder
RS397515427 MEGF8 Health Risk Pathogenic/Likely pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS397515428 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS397515430 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS397515431 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS397515432 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A
RS397515433 PDE4D Health Risk Pathogenic Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS397515434 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome
RS397515435 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
RS397515436 STIM1 Health Risk Pathogenic Myopathy, autophagic vacuolar
RS397515437 VCAN Health Risk Pathogenic Wagner disease, Wagner disease
RS397515438 JAM3 Health Risk Pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS397515439 JAM3 Health Risk Pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS397515440 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 21
RS397515441 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A
RS397515442 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A
RS397515443 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K
RS397515445 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS397515446 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS397515447 NDUFS1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS397515448 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS397515449 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS397515450 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9
RS397515452 HPSE2 Health Risk Pathogenic Urofacial syndrome type 1, Urofacial syndrome type 1
RS397515453 PIK3R1 Health Risk Pathogenic/Likely pathogenic SHORT syndrome, Immunodeficiency 36 with lymphoproliferation
RS397515454 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS397515455 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS397515457 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, without neurologic involvement
RS397515458 TRDN Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Cardiovascular phenotype
RS397515459 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 5, Cardiovascular phenotype
RS397515460 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia 22, Primary ciliary dyskinesia
RS397515461 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS397515462 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS397515463 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS397515464 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS397515465 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Prostate cancer
RS397515466 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS397515467 ADAMTS18 Health Risk Pathogenic Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy
RS397515468 ADAMTS18 Health Risk Pathogenic Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy
RS397515469 ADAMTS18 Health Risk Pathogenic Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy
RS397515470 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS397515475 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS397515476 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS397515478 KCND3 Health Risk Likely pathogenic Variant of unknown significance, Spinocerebellar ataxia type 19/22
RS397515479 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS397515480 RNASEH2A Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome
RS397515481 FGFR1 Health Risk Pathogenic Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS397515482 MYH7 Health Risk Likely pathogenic Left ventricular noncompaction 5, Left ventricular noncompaction cardiomyopathy
RS397515483 TACR3 Health Risk Pathogenic Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
RS397515484 AURKC Health Risk Pathogenic Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA
RS397515485 HCFC1 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX
RS397515486 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS397515487 HCFC1 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX
RS397515488 RSPH9 Health Risk Pathogenic Primary ciliary dyskinesia 12, Primary ciliary dyskinesia 12
RS397515489 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS397515490 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS397515496 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Alport syndrome
RS397515497 COL4A5 Health Risk Likely pathogenic —
RS397515498 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS397515499 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515500 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515502 SIX3 Health Risk Pathogenic Holoprosencephaly 2, Holoprosencephaly 2
RS397515506 MT-ND6 Health Risk Likely pathogenic Leber optic atrophy, Mitochondrial disease
RS397515507 MT-ND1 Health Risk Likely pathogenic Leber optic atrophy, Mitochondrial disease
RS397515511 COMP Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS397515514 FGFR3 Health Risk Pathogenic Thanatophoric dysplasia type 1, 14 conditions
RS397515516 HGD Health Risk Pathogenic Alkaptonuria, HGD-related disorder
RS397515517 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS397515518 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS397515519 INS Health Risk Likely pathogenic Permanent neonatal diabetes mellitus, Type 1 diabetes mellitus 2
RS397515522 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS397515524 TTPA Health Risk Pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS397515527 UROS Health Risk Likely pathogenic Cutaneous porphyria, Cutaneous porphyria
RS397515533 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2
RS397515534 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2
RS397515536 WDR35 Health Risk Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS397515537 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS397515538 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS397515539 CLCN7 Health Risk Pathogenic Autosomal dominant osteopetrosis 2, CLCN7-related disorder
RS397515540 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
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