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
RS1725521831 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1725528788 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1725580167 MTTP Health Risk Likely pathogenic —
RS1725580228 NFKB1 Health Risk Pathogenic —
RS1725580386 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725671086 MTTP Health Risk Pathogenic —
RS1725671165 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725675795 MTTP Health Risk Pathogenic —
RS1725679096 GFM1 Health Risk Pathogenic —
RS1725679318 GFM1 Health Risk Conflicting classifications of pathogenicity —
RS1725682836 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1725702758 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725743022 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1725821400 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS1725826321 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725827570 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725827762 MTTP Health Risk Pathogenic —
RS1725885571 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725886004 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725943334 MTTP Health Risk Pathogenic —
RS1725952378 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725953201 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725955180 MTTP Health Risk Likely pathogenic —
RS1725958418 SLC4A4 Health Risk Likely pathogenic Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1725961307 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS1725996321 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1726001209 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1726024963 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1726067442 BBS7 Health Risk Pathogenic Inborn genetic diseases, Bardet-Biedl syndrome 7
RS17261572 C1GALT1C1 Health Risk Conflicting classifications of pathogenicity Polyagglutinable erythrocyte syndrome, C1GALT1C1-related disorder
RS1726157542 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS1726166189 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1726209700 GFM1 Health Risk Pathogenic —
RS1726221197 MTTP Health Risk Pathogenic —
RS1726226920 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS1726227364 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1726229033 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1726231891 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Inborn genetic diseases
RS1726233533 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1726238223 PROM1 Health Risk Pathogenic Cone-rod dystrophy 2, Cone-rod dystrophy 2
RS1726245372 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1726246959 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1726249249 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1726258048 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1726266741 MTTP Health Risk Pathogenic —
RS1726269709 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1726363887 SEC24D Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1726439532 SEC24D Health Risk Likely pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS1726566546 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1726628642 PPP3CA Health Risk Likely pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS1726649573 ANKRD17 Health Risk Pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS1726673986 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, PKD2-related disorder
RS1726676402 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1726676630 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1726677278 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1726787605 PIGG Health Risk Likely pathogenic —
RS1726803653 PPP3CA Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS1726823468 PIGG Health Risk Likely pathogenic Intellectual disability, autosomal recessive 53
RS1726841476 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1726871489 NDNF Health Risk Pathogenic Hypogonadotropic hypogonadism 25 with anosmia, Hypogonadotropic hypogonadism 25 with anosmia
RS1726901153 NDNF Health Risk Pathogenic Hypogonadotropic hypogonadism 25 with anosmia, Hypogonadotropic hypogonadism 25 with anosmia
RS1726909627 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS1726914026 GRID2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1726969482 EXOSC9 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1D
RS1726987563 BBS7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1727004803 PPP3CA Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS1727077385 NDNF Health Risk Pathogenic Hypogonadotropic hypogonadism 25 with anosmia, Hypogonadotropic hypogonadism 25 with anosmia
RS1727086844 KCNH2 Health Risk Likely pathogenic —
RS1727094027 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1727096342 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1727176227 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1727323495 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1727324181 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727326556 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727333486 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, PKD2-related disorder
RS1727333593 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1727334508 RSRC1 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder
RS1727369694 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS1727380246 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1727380420 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1727393873 FRAS1 Health Risk Likely pathogenic FRAS1-related disorder, FRAS1-related disorder
RS1727394990 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1727399068 FRAS1 Health Risk Pathogenic —
RS1727403682 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1727412388 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727412539 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727413505 PKD2 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1727413597 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1727420867 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Inborn genetic diseases
RS1727421192 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727423812 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1727490024 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1727514792 CFI Health Risk Likely pathogenic —
RS1727568821 SEC24D Health Risk Likely pathogenic —
RS1727571378 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS1727648258 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1727649413 PKD2 Health Risk Pathogenic —
RS1727650877 PKD2 Health Risk Likely pathogenic —
RS1727651995 PKD2 Health Risk Conflicting classifications of pathogenicity —
RS1727720677 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
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