SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886041087 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS886041088 FMR1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS886041089 FMR1 Health Risk Pathogenic Intellectual disability, Nonpapillary renal cell carcinoma
RS886041090 BRPF1 Health Risk Pathogenic Intellectual disability, Intellectual developmental disorder with dysmorphic facies and ptosis
RS886041091 NTRK2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 58
RS886041093 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS886041094 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS886041095 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS886041097 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS886041100 AKT3 Health Risk Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS886041102 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS886041106 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS886041108 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS886041111 ZIC3 Health Risk Likely pathogenic Heterotaxy, visceral
RS886041114 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS886041116 ADNP Health Risk Pathogenic/Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, 8 conditions
RS886041121 CYP11A1 Health Risk Likely pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS886041122 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder
RS886041123 AIRE Health Risk Pathogenic —
RS886041124 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS886041125 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, 8 conditions
RS886041126 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Spastic paraplegia
RS886041127 AP4S1 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 52
RS886041128 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS886041129 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS886041130 AR Health Risk Pathogenic —
RS886041131 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS886041132 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS886041133 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS886041134 ARSL Health Risk Pathogenic —
RS886041135 ARSL Health Risk Pathogenic —
RS886041138 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS886041139 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886041141 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Vitelliform macular dystrophy 2
RS886041142 BEST1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive bestrophinopathy, BEST1-related disorder
RS886041144 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS886041145 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS886041146 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS886041147 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS886041148 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS886041149 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS886041153 CASK Health Risk Pathogenic —
RS886041154 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS886041157 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS886041158 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS886041161 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS886041162 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS886041163 CHD7 Health Risk Pathogenic —
RS886041166 CHD7 Health Risk Pathogenic Inborn genetic diseases, CHARGE syndrome
RS886041167 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886041169 CHD7 Health Risk Pathogenic —
RS886041170 CHD7 Health Risk Pathogenic —
RS886041172 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886041173 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886041174 CHM Health Risk Pathogenic —
RS886041175 CHM Health Risk Pathogenic CHM-related disorder, CHM-related disorder
RS886041176 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS886041177 CHM Health Risk Pathogenic Retinal dystrophy, Choroideremia
RS886041178 CHM Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS886041179 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS886041180 CHM Health Risk Pathogenic —
RS886041181 CHM Health Risk Pathogenic —
RS886041184 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS886041185 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Inborn genetic diseases
RS886041186 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS886041187 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS886041188 COL7A1 Health Risk Pathogenic/Likely pathogenic —
RS886041189 COL7A1 Health Risk Pathogenic/Likely pathogenic —
RS886041190 CSRP3 Health Risk Pathogenic —
RS886041191 CYBB Health Risk Pathogenic —
RS886041192 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS886041193 CYBB Health Risk Pathogenic —
RS886041194 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS886041195 CYBB Health Risk Pathogenic —
RS886041197 EEF1A2 Health Risk Pathogenic EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, Intellectual disability
RS886041199 EXT2 Health Risk Pathogenic Exostoses, multiple
RS886041200 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS886041201 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS886041202 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS886041203 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Pneumothorax - familial
RS886041204 INPP5E Health Risk Pathogenic —
RS886041205 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS886041207 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS886041209 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Inborn genetic diseases
RS886041211 LMNA Health Risk Pathogenic —
RS886041212 LORICRIN Health Risk Pathogenic Loricrin keratoderma, Loricrin keratoderma
RS886041213 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS886041214 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS886041215 NR0B1 Health Risk Pathogenic —
RS886041216 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Inborn genetic diseases
RS886041217 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS886041218 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS886041219 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, NSD1-related disorder
RS886041220 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886041221 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS886041222 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS886041223 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041224 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886041225 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS886041226 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder
« Prev 1 ... 3925 3926 3927 3928 3929 3930 3931 ... 4010 Next »

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

Get Started Free →