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
RS1340894696 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1340911940 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Inborn genetic diseases
RS1340914824 CUX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1340921963 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1340926191 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1340926346 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS1340928778 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1340929933 CUL7 Health Risk Likely pathogenic 3-M syndrome, 3-M syndrome
RS1340940049 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1340940841 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS1340942427 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1340949974 JUP Health Risk Likely pathogenic Naxos disease, Naxos disease
RS1340952961 COL10A1 Health Risk Likely pathogenic —
RS1340959180 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1340981566 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1340982465 TTLL5 Health Risk Pathogenic —
RS1340989734 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1341004065 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1341020147 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS1341025285 TRPV4 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1341026212 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1341032857 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS1341033162 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS1341038926 STAT1 Health Risk Likely pathogenic —
RS1341055534 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Encephalopathy
RS1341064149 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1341083602 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1341121356 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS1341134360 TPRN Health Risk Likely pathogenic —
RS1341165259 CD3D Health Risk Likely pathogenic Immunodeficiency 19, Immunodeficiency 19
RS1341172185 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1341186496 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1341205888 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1341219224 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1341227088 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1341243329 SOX9 Health Risk Pathogenic/Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1341244760 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS1341249433 CYP17A1 Health Risk Pathogenic —
RS1341292125 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1341298773 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS1341359606 ARSL Health Risk Likely pathogenic —
RS1341371726 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1341387039 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1341401004 COL2A1 Health Risk Pathogenic —
RS1341424851 PATL2 Health Risk Pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS1341441238 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1341457041 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1341463104 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1341473353 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1341484544 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1341485123 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS1341498364 COL11A1 Health Risk Pathogenic —
RS1341498392 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1341502906 SLC2A10 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
RS1341511822 NUP93 Health Risk Likely pathogenic NUP93-related disorder, NUP93-related disorder
RS13415309 IHH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1341540567 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1341545186 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1341550325 FOXH1 Health Risk Likely pathogenic Conotruncal defect, Conotruncal defect
RS1341552636 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1341566934 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS1341570153 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1341592819 GUCY2D Health Risk Pathogenic/Likely pathogenic maculopathy, Leber congenital amaurosis 1
RS1341598207 MAK Health Risk Pathogenic —
RS1341613149 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS1341621315 APOA5 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1341633213 ACE Health Risk Pathogenic Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS1341636573 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1341647863 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1341652994 CAD Health Risk Conflicting classifications of pathogenicity Infantile epileptic dyskinetic encephalopathy, Infantile epileptic dyskinetic encephalopathy
RS1341659417 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS1341667 STOX1 Health Risk risk factor Preeclampsia/eclampsia 4, Preeclampsia/eclampsia 4
RS1341687319 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1341689711 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1341709717 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS1341720994 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1341745986 PARN Health Risk Pathogenic —
RS1341751250 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1341755128 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1341763493 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1341782266 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1341789008 COL5A1 Health Risk Likely pathogenic —
RS1341804179 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1341806090 LRP5 Health Risk Pathogenic —
RS1341857958 WT1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 4
RS1341872544 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1341890249 DST Health Risk Likely pathogenic —
RS1341891692 MAD1L1 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
RS1341894581 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Inborn genetic diseases
RS1341908127 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1341922880 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1341948399 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1341974048 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1341974678 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1341981506 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS1341988492 TFRC Health Risk Pathogenic TFRC-related combined immunodeficiency, TFRC-related combined immunodeficiency
RS1342009710 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1342011335 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1342038737 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1342054043 MORC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay
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