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
RS1555977811 BTK Health Risk Pathogenic —
RS1555978024 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555978069 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases
RS1555978197 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555978219 PLA2G6 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS1555978277 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency
RS1555978356 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1555978369 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS1555978412 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1555978777 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1555978891 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555979106 DYRK1A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1555979158 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555979164 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555979298 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1555979401 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Ovarian serous cystadenocarcinoma
RS1555979575 CLDN2 Health Risk Pathogenic Azoospermia, obstructive
RS1555979596 SLC16A2 Health Risk Pathogenic Inborn genetic diseases, Spastic paraplegia
RS1555979604 SLC16A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555980033 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1555980049 BTK Health Risk Pathogenic/Likely pathogenic Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia
RS1555980192 DYRK1A Health Risk Pathogenic —
RS1555980223 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555980234 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555980252 DYRK1A Health Risk Likely pathogenic See cases, See cases
RS1555980296 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555980467 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555980523 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1555980614 TAF1 Health Risk Likely pathogenic —
RS1555980796 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1555980799 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555980866 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555980875 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1555980888 BTK Health Risk Pathogenic —
RS1555981408 NHS Health Risk Pathogenic —
RS1555981433 NHS Health Risk Pathogenic —
RS1555981717 CASK Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1555981722 CASK Health Risk Likely pathogenic Intellectual disability, CASK-related
RS1555982591 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555982601 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555982630 DYRK1A Health Risk Pathogenic —
RS1555982699 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555982860 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555982864 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS1555982879 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS1555982894 AR Health Risk Pathogenic/Likely pathogenic Partial androgen insensitivity syndrome, Androgen resistance syndrome
RS1555984064 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, Intellectual disability
RS1555984071 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555984102 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Complex neurodevelopmental disorder
RS1555984237 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555984238 DYRK1A Health Risk Pathogenic —
RS1555984245 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555984304 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555984343 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555984429 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1555984433 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555984437 PCDH19 Health Risk Likely pathogenic —
RS1555984453 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555984461 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, Complex neurodevelopmental disorder
RS1555984518 POU3F4 Health Risk Likely pathogenic —
RS1555984570 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS1555984717 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1555984776 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1555984840 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555984843 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555984858 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555984869 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1555984946 PCDH19 Health Risk Pathogenic —
RS1555984947 PCDH19 Health Risk Pathogenic Nonpapillary renal cell carcinoma, Developmental and epileptic encephalopathy
RS1555984950 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555985002 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1555985004 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1555985010 GLA Health Risk Likely pathogenic Fabry disease, Cardiovascular phenotype
RS1555985059 PCDH19 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555985091 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555985105 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985142 PCDH19 Health Risk Likely pathogenic Glycine encephalopathy, Developmental and epileptic encephalopathy
RS1555985148 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1555985163 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985175 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1555985200 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1555985260 TIMP3 Health Risk Likely pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS1555985301 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985306 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985368 PCDH19 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555985372 PCDH19 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555985389 PCDH19 Health Risk Likely pathogenic —
RS1555985416 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985427 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985475 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985482 PCDH19 Health Risk Likely pathogenic —
RS1555985524 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555985532 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555985543 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985554 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555985565 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555985620 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555985623 PCDH19 Health Risk Pathogenic —
RS1555985639 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1555985642 DYRK1A Health Risk Pathogenic Inborn genetic diseases, Complex neurodevelopmental disorder
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