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
RS1446554442 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS144655516 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS144655979 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS144655991 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Inborn genetic diseases
RS144656181 SEC23A Health Risk Conflicting classifications of pathogenicity Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
RS1446569235 BDP1 Health Risk Conflicting classifications of pathogenicity —
RS144657355 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma
RS144657822 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS144658100 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1446583831 MME Health Risk Likely pathogenic —
RS1446588093 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS1446589532 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS144659242 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS144659252 CNTNAP1 Health Risk Pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS144659635 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS144659773 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lissencephaly due to LIS1 mutation
RS144661239 SDHAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1446616818 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS144662002 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS144662546 LAMC3 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS1446626293 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS1446630759 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS144664551 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS144664865 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, NBEAL2-related disorder
RS144665594 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS1446657813 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS144666114 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS1446662814 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144666367 SERPINB8 Health Risk Conflicting classifications of pathogenicity Peeling skin syndrome 5, Peeling skin syndrome 5
RS144666655 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, BMP1-related disorder
RS144666812 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS144667422 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS144667627 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS144668102 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS144668210 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS144668374 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS144668404 RPS6KC1 Health Risk Conflicting classifications of pathogenicity —
RS144669389 KDSR Health Risk Likely pathogenic Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
RS1446694237 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1446704941 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS144670544 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS144670595 KISS1R Health Risk Conflicting classifications of pathogenicity Bilateral cryptorchidism, Microphallus
RS144670908 SKIC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SKIC2-related disorder
RS1446718670 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS144671871 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1446723373 FGF10 Health Risk Pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS144672482 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144672500 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS144672633 LBR Health Risk Conflicting classifications of pathogenicity —
RS144672900 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS1446729264 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS144672997 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS144673252 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS144673752 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS144673879 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS1446744416 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Cervical cancer
RS1446745791 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1446750643 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1446751435 CDHR1 Health Risk Pathogenic Macular dystrophy, retinal
RS144675935 EMC1 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, visual impairment
RS1446760969 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS144677434 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Inborn genetic diseases
RS144677816 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS144678100 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS144679674 F10 Health Risk Conflicting classifications of pathogenicity Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS144680234 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1446807021 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1446807404 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS144681140 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, ACSF3-related disorder
RS144681826 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1446827633 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS1446831422 CDK4 Health Risk Conflicting classifications of pathogenicity Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
RS1446832873 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1446835451 GNAS Health Risk Conflicting classifications of pathogenicity —
RS144683591 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS144683867 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS144685297 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS144688228 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS144688481 MAOA Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS144688588 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1D
RS144688616 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144688852 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS144689354 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Acute myeloid leukemia
RS1446895238 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS144690298 TTN Health Risk Conflicting classifications of pathogenicity —
RS144690677 SEMA3A Health Risk Conflicting classifications of pathogenicity SEMA3A-related disorder, SEMA3A-related disorder
RS144691257 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS144691316 CNTNAP3 Health Risk Conflicting classifications of pathogenicity —
RS144691445 STRA6 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS1446915781 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS144691638 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS144692175 SYNE1 Health Risk Likely pathogenic —
RS144692310 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS1446925902 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS144692952 TMEM132E Health Risk Conflicting classifications of pathogenicity —
RS1446930968 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS144693621 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Cataract 36
RS144693880 RUSC2 Health Risk Pathogenic —
RS1446948758 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS144695319 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
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