SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS797045151 MCIDAS Health Risk Pathogenic Ciliary dyskinesia, primary
RS797045152 MCIDAS Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS797045153 EBP Health Risk Likely pathogenic MEND syndrome, MEND syndrome
RS797045155 BBS2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 74, Bardet-Biedl syndrome 2
RS797045156 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS797045159 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS797045160 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS797045161 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS797045162 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS797045163 FLNA Health Risk Pathogenic HETEROTOPIA, PERIVENTRICULAR NODULAR
RS797045164 KIF1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 9
RS797045165 LZTR1 Health Risk Likely pathogenic Noonan syndrome 10, LZTR1-related schwannomatosis
RS797045166 LZTR1 Health Risk Pathogenic Noonan syndrome 10, Noonan syndrome 10
RS797045167 SOS2 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 9, RASopathy
RS797045169 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS797045170 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS797045171 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS797045172 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS797045173 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS797045174 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS797045175 BRCA1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Breast-ovarian cancer
RS797045176 CAV1 Health Risk Pathogenic Congenital generalized lipodystrophy type 3, Partial lipodystrophy
RS797045177 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 13
RS797045178 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 13
RS797045181 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS797045182 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS797045184 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS797045185 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS797045187 RNF213 Health Risk Likely pathogenic Moyamoya disease 2, Moyamoya angiopathy
RS797045190 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS797045202 SLC52A2 Health Risk Pathogenic/Likely pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS797045203 GNAS Health Risk Pathogenic —
RS797045205 ABCA13 Health Risk Likely pathogenic Schizophrenia, Schizophrenia
RS797045207 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS797045208 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS797045209 ABCC8 Health Risk Pathogenic/Likely pathogenic Diabetes mellitus, transient neonatal
RS797045211 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS797045212 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS797045213 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS797045217 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS797045221 AFG3L2 Health Risk Likely pathogenic Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS797045222 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS797045223 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS797045224 AHI1 Health Risk Likely pathogenic Joubert syndrome 3, Retinitis pigmentosa
RS797045228 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS797045240 ANO10 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Ovarian serous cystadenocarcinoma
RS797045244 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Spastic paraplegia
RS797045249 AP4M1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 50, Intellectual disability
RS797045253 APOB Health Risk Likely pathogenic Hypobetalipoproteinemia, Hypobetalipoproteinemia
RS797045256 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARFGEF2-related disorder
RS797045258 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS797045262 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS797045263 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS797045264 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS797045266 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS797045267 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS797045268 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS797045270 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS797045271 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS797045272 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS797045273 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS797045274 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS797045277 ARID1B Health Risk Pathogenic 7 conditions, Coffin-Siris syndrome 1
RS797045278 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS797045279 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS797045280 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS797045281 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS797045282 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS797045283 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related disorder
RS797045289 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS797045290 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS797045291 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS797045292 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, Developmental and epileptic encephalopathy
RS797045294 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS797045295 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS797045298 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, Developmental and epileptic encephalopathy
RS797045301 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS797045303 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS797045304 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS797045305 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS797045306 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS797045307 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS797045310 ASPM Health Risk Conflicting classifications of pathogenicity —
RS797045311 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS797045313 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS797045314 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS797045315 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS797045316 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS797045317 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS797045325 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS797045327 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS797045329 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS797045330 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS797045331 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS797045332 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS797045333 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS797045336 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS797045337 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS797045338 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS797045339 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
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