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
RS2147492697 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147495562 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2147495667 CASK Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2147496735 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147497386 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Kennedy disease
RS2147497751 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147497993 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147503631 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2147503858 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147504920 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2147506322 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2147508108 SMS Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS2147509524 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509613 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509622 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509660 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509712 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509771 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509775 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509825 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509853 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509886 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147509932 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147511678 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, EDA-related disorder
RS2147511696 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147511758 EDA Health Risk Likely pathogenic —
RS2147513193 SMS Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS2147516240 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147516257 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Asphyxiating thoracic dystrophy 3
RS2147516267 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS2147516275 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Thyroid cancer
RS2147516523 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147516557 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147516572 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147517480 SMS Health Risk Likely pathogenic Inborn genetic diseases, Syndromic X-linked intellectual disability Snyder type
RS2147517821 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2147517939 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2147518591 MSN Health Risk Pathogenic Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency
RS2147518914 EDA Health Risk Pathogenic —
RS2147518971 EDA Health Risk Likely pathogenic —
RS2147518992 MSN Health Risk Pathogenic —
RS2147519167 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147519270 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS2147519353 SH2D1A Health Risk Pathogenic/Likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, Autoinflammatory syndrome
RS2147519384 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147519411 EDA Health Risk Likely pathogenic —
RS2147519482 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147523033 OTUD5 Health Risk Pathogenic Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
RS2147523877 OPHN1 Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147524252 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147524430 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147524833 AR Health Risk Likely pathogenic Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome
RS2147524850 AR Health Risk Pathogenic Male infertility, Male infertility
RS2147524930 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147524944 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147524993 AR Health Risk Likely pathogenic Kennedy disease, Androgen resistance syndrome
RS2147525149 AR Health Risk Likely pathogenic Androgen resistance syndrome, Nonpapillary renal cell carcinoma
RS2147525286 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147525351 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2147525357 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147530549 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2147530668 AR Health Risk Pathogenic/Likely pathogenic Kennedy disease, Androgen resistance syndrome
RS2147530773 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147530793 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147530802 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Androgen resistance syndrome
RS2147530836 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2147530850 ACE Health Risk Pathogenic —
RS2147530857 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS2147530924 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147530929 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147531195 AR Health Risk Likely pathogenic Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome
RS2147531326 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2147531379 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2147531380 SH2D1A Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2147532974 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147533042 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147533057 PLS3 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2147533064 PLS3 Health Risk Likely pathogenic Bone mineral density quantitative trait locus 18, Nonpapillary renal cell carcinoma
RS2147533148 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147533347 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147533439 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147533687 ACE Health Risk Pathogenic —
RS2147534019 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2147534047 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2147534056 SH2D1A Health Risk Pathogenic Autoinflammatory syndrome, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS2147534220 NDUFAF5 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2147534335 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147535484 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147535489 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2147535633 AR Health Risk Likely pathogenic —
RS2147535891 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147536129 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147537315 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147537479 AR Health Risk Likely pathogenic —
RS2147537756 AR Health Risk Likely pathogenic AR-related disorder, Androgen resistance syndrome
RS2147537798 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147537806 AR Health Risk Pathogenic Male infertility, Non-obstructive azoospermia
RS2147537831 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147537840 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147537854 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
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