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
RS1603337052 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603338257 PHF8 Health Risk Pathogenic —
RS1603339671 PHF8 Health Risk Pathogenic —
RS1603340281 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603340353 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1603341328 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1603341359 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1603342258 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603342313 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603342316 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1603342339 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603343101 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603343235 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1603346587 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1603346830 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603346857 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603346983 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603347042 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603347058 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603350606 AFF2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1603358246 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS1603358919 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1603359091 FLNA Health Risk Likely pathogenic Prune belly syndrome, Prune belly syndrome
RS1603359205 FLNA Health Risk Likely pathogenic Prune belly syndrome, Prune belly syndrome
RS1603359417 FLNA Health Risk Likely pathogenic —
RS1603359437 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS1603359464 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS1603359848 MAGT1 Health Risk Likely pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1603360542 FLNA Health Risk Pathogenic/Likely pathogenic Cardiac valvular dysplasia, X-linked
RS1603360547 FLNA Health Risk Pathogenic —
RS1603360728 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1603360906 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1603361195 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1603361427 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1603361428 MAGT1 Health Risk Likely pathogenic —
RS1603361558 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603361570 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603361577 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603361587 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603361606 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1603361705 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603361729 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1603361795 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1603361804 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1603361811 MAGT1 Health Risk Likely pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1603361851 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS1603361938 FLNA Health Risk Conflicting classifications of pathogenicity —
RS1603362402 FLNA Health Risk Pathogenic Cardiac valvular dysplasia, X-linked
RS1603362580 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603362622 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603362725 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603362871 FLNA Health Risk Pathogenic/Likely pathogenic Melnick-Needles syndrome, Heterotopia
RS1603365762 EMD Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1603366250 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603366351 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603367647 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603367649 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603367673 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603367753 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1603368431 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603368490 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603368491 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1603370185 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS1603371016 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS1603373827 PAK3 Health Risk Pathogenic Microcephaly, Intellectual disability
RS1603376560 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1603376833 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, Thyroid cancer
RS1603376938 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1603377590 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1603377747 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1603377813 PAK3 Health Risk Likely pathogenic Intellectual disability, X-linked 30
RS1603377936 TAFAZZIN Health Risk Likely pathogenic Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS1603377945 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype
RS1603378331 PAK3 Health Risk Likely pathogenic Intellectual disability, X-linked 30
RS1603379772 NKAP Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS1603379779 NKAP Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, X-linked
RS1603379780 NKAP Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, X-linked
RS1603379781 NKAP Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, X-linked
RS1603381331 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS1603381671 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1603381860 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, TAFAZZIN-related disorder
RS1603382251 TAFAZZIN Health Risk Likely pathogenic —
RS1603387278 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1603388837 RAX Health Risk Pathogenic Isolated microphthalmia 3, Isolated microphthalmia 3
RS1603389393 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS1603391120 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS1603391127 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1603392097 MED13 Health Risk Pathogenic —
RS1603392856 MED13 Health Risk Pathogenic —
RS1603393478 PISD Health Risk Pathogenic/Likely pathogenic PISD-related mitochondrial disease, Liberfarb syndrome
RS1603394630 MED13 Health Risk Pathogenic —
RS1603396835 MED13 Health Risk Pathogenic —
RS1603400699 MAPRE2 Health Risk Likely pathogenic Skin creases, congenital symmetric circumferential
RS1603401125 ACSL4 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1603404297 IGSF1 Health Risk Pathogenic/Likely pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
RS1603404413 IGSF1 Health Risk Pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
RS1603404421 IGSF1 Health Risk Pathogenic X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement
RS1603405457 MED13 Health Risk Likely pathogenic Intellectual developmental disorder 61, Intellectual developmental disorder 61
RS1603410966 MED13 Health Risk Pathogenic —
RS1603411177 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
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