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
RS2032247686 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032247780 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, RAI1-related disorder
RS2032249629 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032249630 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS2032257286 RAI1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2032281944 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032282970 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032287989 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2032293119 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032293586 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS2032300575 RAI1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2032301462 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2032302357 RAI1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2032316656 RAI1 Health Risk Pathogenic Developmental disorder, Smith-Magenis syndrome
RS2032319236 AP1G1 Health Risk Likely pathogenic Usmani-Riazuddin syndrome, autosomal dominant
RS2032341763 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS2032358181 ADAMTS17 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS2032380956 GIPC3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 15, Autosomal recessive nonsyndromic hearing loss 15
RS2032459600 USH2A Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS2032462132 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS2032559501 HNF1B Health Risk Uncertain risk allele Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2032560672 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital contractures of the limbs and face
RS2032665966 CLTC Health Risk Pathogenic —
RS2032692897 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2032737194 CLTC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2032737696 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2032738350 CLTC Health Risk Pathogenic Noonan syndrome 3, Noonan syndrome 3
RS2032745316 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS2032745517 TRPM1 Health Risk Pathogenic —
RS2032758309 CDC6 Health Risk Conflicting classifications of pathogenicity —
RS2032781418 LOXHD1 Health Risk Likely pathogenic —
RS2032789560 TRPM1 Health Risk Likely pathogenic —
RS2032804513 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2032836923 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2032842359 ANKRD11 Health Risk Likely pathogenic —
RS2032882195 GNAL Health Risk Likely pathogenic Dystonic disorder, Dystonic disorder
RS2032897142 HNF1B Health Risk Uncertain significance/Uncertain risk allele Monogenic diabetes, Maturity-onset diabetes of the young
RS2032934405 CDK5RAP2 Health Risk Likely pathogenic —
RS2032939837 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2032979866 CLTC Health Risk Conflicting classifications of pathogenicity —
RS2033033528 GATA6 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS2033035924 CLTC Health Risk Pathogenic Intellectual disability, autosomal dominant 56
RS2033057699 GATA6 Health Risk Pathogenic Atrioventricular septal defect 5, Atrioventricular septal defect 5
RS2033059401 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Inborn genetic diseases
RS2033077979 CLTC Health Risk Pathogenic —
RS2033085976 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2033087760 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2033130135 NALCN Health Risk Conflicting classifications of pathogenicity Developmental disorder, Congenital contractures of the limbs and face
RS2033156861 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS2033232817 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS2033241849 CEP290 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2033254449 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2033273061 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2033274775 LOXHD1 Health Risk Pathogenic/Likely pathogenic —
RS2033363279 CLTC Health Risk Likely pathogenic —
RS2033399542 NUBPL Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2033455920 TRPM1 Health Risk Likely pathogenic —
RS2033474535 PTRH2 Health Risk Likely pathogenic Neurologic, endocrine
RS2033503888 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2033511172 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS2033511910 UBR1 Health Risk Likely pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS2033513257 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2033533123 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS2033535934 ANKRD11 Health Risk Likely pathogenic KBG syndrome, See cases
RS2033536147 ANKRD11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Sudden unexplained death in childhood
RS2033551253 MAOA Health Risk Likely pathogenic Brunner syndrome, Brunner syndrome
RS2033574124 TAF1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2033596870 UBR1 Health Risk Pathogenic UBR1-related disorder, UBR1-related disorder
RS2033602281 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2033603128 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2033609417 NPC1 Health Risk Likely pathogenic —
RS2033620480 UBR1 Health Risk Pathogenic —
RS2033656475 NALCN Health Risk Likely pathogenic Hypotonia, infantile
RS2033670961 TAF1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS2033685902 XYLT1 Health Risk Likely pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS2033686347 GNB5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2033688284 SREBF1 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS2033689385 SREBF1 Health Risk Pathogenic IFAP syndrome 2, IFAP syndrome 1
RS2033690347 SREBF1 Health Risk Pathogenic IFAP syndrome 1, with or without BRESHECK syndrome
RS2033692285 HNF1B Health Risk Likely pathogenic/Likely risk allele Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2033692404 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS2033693875 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2033706353 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2033708755 MLC1 Health Risk Pathogenic —
RS2033722183 KIZ Health Risk Pathogenic/Likely pathogenic KIZ-related retinopathy, KIZ-related retinopathy
RS2033726928 BFSP1 Health Risk Pathogenic Cataract 33, Cataract 33
RS2033731019 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS2033751993 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2033752564 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2033756985 TRPM1 Health Risk Likely pathogenic —
RS2033773650 GREB1L Health Risk Likely pathogenic Profound hearing impairment, Hearing loss
RS2033776473 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS2033779969 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2033787523 NALCN Health Risk Pathogenic/Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2033819494 TACO1 Health Risk Likely pathogenic —
RS2033825467 TRPM1 Health Risk Likely pathogenic Intellectual disability, Congenital stationary night blindness 1C
RS2033827549 CEP290 Health Risk Pathogenic Joubert syndrome 5, Meckel-Gruber syndrome
RS2033836650 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2033870567 TACO1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2033903740 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
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