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
RS2075687773 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075687835 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2075701790 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2075702300 SMC1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 85
RS2075725792 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075725850 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075726992 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075758478 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2075764795 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2075824424 HSD17B10 Health Risk Likely pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS2075831472 HERC2 Health Risk Pathogenic —
RS2075834227 HSD17B10 Health Risk Likely pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS2075872773 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2075900501 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2075906916 CTNS Health Risk Likely pathogenic Juvenile nephropathic cystinosis, Ocular cystinosis
RS2075909295 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Ocular cystinosis
RS2075920978 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2075964628 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS2075964906 AR Health Risk Pathogenic —
RS2075975847 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2076013475 MBOAT7 Health Risk Pathogenic Intellectual disability, autosomal recessive 57
RS2076017638 MBOAT7 Health Risk Pathogenic Intellectual disability, autosomal recessive 57
RS2076070300 BAG5 Health Risk Pathogenic Cardiomyopathy, dilated
RS2076073941 HERC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2076078319 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2076092608 CTNS Health Risk Likely pathogenic Juvenile nephropathic cystinosis, Ocular cystinosis
RS2076093998 AR Health Risk Likely pathogenic —
RS2076094126 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2076094436 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2076094603 CTNS Health Risk Conflicting classifications of pathogenicity Nephropathic cystinosis, Ocular cystinosis
RS2076094679 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS2076095044 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076099474 COA8 Health Risk Pathogenic —
RS2076100543 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2076100759 CTNS Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2076101632 CTNS Health Risk Pathogenic Juvenile nephropathic cystinosis, Ocular cystinosis
RS2076101974 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2076113325 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076118513 AR Health Risk Likely pathogenic —
RS2076118553 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2076118841 CD40LG Health Risk Pathogenic Hyperimmunoglobulin M syndrome, Hyperimmunoglobulin M syndrome
RS2076118894 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS2076118909 AR Health Risk Likely pathogenic —
RS2076119092 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2076119100 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076119189 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076126859 CD40LG Health Risk Likely pathogenic —
RS2076126996 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076127075 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076127133 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076127276 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076127875 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS2076137289 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2076137339 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2076137708 AR Health Risk Likely pathogenic —
RS2076139894 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2076142436 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2076142560 AR Health Risk Conflicting classifications of pathogenicity Kennedy disease, Androgen resistance syndrome
RS2076147482 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2076149627 MUSK Health Risk Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2076150607 CTNS Health Risk Pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2076151594 CTNS Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2076192966 MBOAT7 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2076195866 CTNS Health Risk Conflicting classifications of pathogenicity Nephropathic cystinosis, Ocular cystinosis
RS2076198741 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2076198775 CTNS Health Risk Pathogenic Inborn genetic diseases, Ocular cystinosis
RS2076200436 CTNS Health Risk Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2076205946 COLGALT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2076207767 COLGALT1 Health Risk Likely pathogenic Brain small vessel disease 3, Brain small vessel disease 3
RS2076245419 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2076253869 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS2076305143 PCDH15 Health Risk Pathogenic —
RS2076324884 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2076326463 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2076335306 RAPSN Health Risk Pathogenic Hydrops fetalis, Hydrops fetalis
RS2076339915 MAPT Health Risk Likely pathogenic —
RS2076368388 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2076368824 RAPSN Health Risk Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2076371827 PCDH15 Health Risk Likely pathogenic —
RS2076375159 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS2076393894 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2076400400 GPC3 Health Risk Pathogenic Wilms tumor 1, GPC3-related disorder
RS2076400520 GPC3 Health Risk Pathogenic Inborn genetic diseases, Wilms tumor 1
RS2076413 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS2076422949 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2076423585 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS2076425196 LAMB3 Health Risk Likely pathogenic —
RS2076425356 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Congenital myasthenic syndrome 11
RS2076427827 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2076431110 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2076432332 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2076433607 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS2076434133 PCDH15 Health Risk Pathogenic —
RS2076434973 PCDH15 Health Risk Pathogenic —
RS2076453599 MBOAT7 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 57
RS2076453977 MBOAT7 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2076486420 SYNE1 Health Risk Pathogenic Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis
RS2076489265 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS2076508722 MBOAT7 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 57
RS2076520917 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
« Prev 1 ... 1592 1593 1594 1595 1596 1597 1598 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →