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
RS202167109 HTRA1 Health Risk Conflicting classifications of pathogenicity Macular degeneration, Macular degeneration
RS202167110 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202167212 PLD1 Health Risk Likely pathogenic Cardiac valvular defect, developmental
RS202167435 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS202167735 XIRP2 Health Risk Conflicting classifications of pathogenicity XIRP2-related disorder, XIRP2-related disorder
RS202168282 DONSON Health Risk Conflicting classifications of pathogenicity DONSON-related disorder, DONSON-related disorder
RS202168805 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS202168814 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS202168841 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootic syndrome 1
RS202169378 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS202169454 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS202169624 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS202169733 PRKCSH Health Risk Conflicting classifications of pathogenicity —
RS202169863 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH17-related disorder
RS202170105 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS202170644 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Progressive myoclonic epilepsy type 5
RS202170806 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS202171160 LFNG Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 3, autosomal recessive
RS202171627 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS202171698 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS202171795 PPP1CB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, PPP1CB-related disorder
RS202171848 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS202171900 BLTP1 Health Risk Conflicting classifications of pathogenicity —
RS202171930 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Premature ovarian failure 15
RS202171981 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Inborn genetic diseases
RS202172163 RRM2B Health Risk Conflicting classifications of pathogenicity —
RS202172327 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS202172391 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Batten-Turner congenital myopathy
RS202172477 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202173395 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS202173526 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS202173660 ATM Health Risk Likely pathogenic, low penetrance Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS202174131 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS202174386 DNAH1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS202174410 STRA6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Matthew-Wood syndrome
RS202174472 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS202174893 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS202175091 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS202175444 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS202175564 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS202175607 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS202176504 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS202176570 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS202176617 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202176679 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome
RS202176764 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL9A1-related disorder
RS202176821 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS202176869 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS202176990 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS202177283 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial abdominal
RS202177331 RDX Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder
RS202177618 FLRT3 Health Risk Conflicting classifications of pathogenicity FLRT3-related disorder, FLRT3-related disorder
RS202177647 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS202178128 LHFPL5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 67, LHFPL5-related disorder
RS202178259 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS202178897 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS202179484 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS202179507 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS202179597 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS202179802 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS202179816 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202179978 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS202180736 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS202180775 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS202180923 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS202181557 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS202182619 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS202183386 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS202183509 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77
RS202183605 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS202183893 STRADA Health Risk Conflicting classifications of pathogenicity Polyhydramnios, megalencephaly
RS202184162 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS202184174 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Wolff-Parkinson-White pattern
RS202184911 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS202185465 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS202185764 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Tip-toe gait
RS202186209 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS202186932 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS202187007 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS202187398 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS202187736 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PHIP-related disorder
RS202187894 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS202187935 MTOR Health Risk Conflicting classifications of pathogenicity —
RS202187965 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS202188213 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS202188305 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Inborn genetic diseases
RS202188500 EYA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Melnick-Fraser syndrome
RS202189057 TPP1 Health Risk Pathogenic Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS202189171 TGIF1 Health Risk Conflicting classifications of pathogenicity TGIF1-related disorder, Holoprosencephaly 4
RS202189540 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS202189669 RINT1 Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 3, Infantile liver failure syndrome 3
RS202189844 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS202189990 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS202190131 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia 1, Paroxysmal nonkinesigenic dyskinesia
RS202190197 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS202190413 APOC2 Health Risk Pathogenic/Likely pathogenic Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency
RS202190568 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS202190573 PNPT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 70, Combined oxidative phosphorylation defect type 13
RS202190787 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS202190908 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
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