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
RS1057518150 SPRED1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1057518151 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS1057518152 NFIX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057518154 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1057518155 RAF1 Health Risk Likely pathogenic —
RS1057518156 ZEB2 Health Risk Pathogenic —
RS1057518157 COL2A1 Health Risk Pathogenic —
RS1057518159 PAX9 Health Risk Pathogenic —
RS1057518160 FLAD1 Health Risk Pathogenic/Likely pathogenic Myopathy with abnormal lipid metabolism, Myopathy with abnormal lipid metabolism
RS1057518161 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS1057518162 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1057518163 GATAD2B Health Risk Pathogenic —
RS1057518164 GPR143 Health Risk Pathogenic Retinal disorder, Retinal disorder
RS1057518165 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1057518166 SMARCE1 Health Risk Pathogenic/Likely pathogenic Familial meningioma, Hereditary cancer-predisposing syndrome
RS1057518167 STXBP1 Health Risk Pathogenic —
RS1057518168 TBX1 Health Risk Pathogenic —
RS1057518169 KCNH2 Health Risk Pathogenic —
RS1057518170 POGZ Health Risk Pathogenic dysmorphy, intellectual deficiency
RS1057518171 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1057518172 KDM5C Health Risk Pathogenic —
RS1057518173 PDHA1 Health Risk Pathogenic —
RS1057518174 USP9X Health Risk Pathogenic —
RS1057518175 NSD1 Health Risk Pathogenic —
RS1057518176 DNMT3B Health Risk Likely pathogenic —
RS1057518177 AR Health Risk Pathogenic —
RS1057518178 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1057518180 PDHX Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS1057518181 ECEL1 Health Risk Pathogenic —
RS1057518182 KANSL1 Health Risk Pathogenic —
RS1057518183 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1057518184 NSD1 Health Risk Pathogenic —
RS1057518185 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1057518186 KMT2D Health Risk Pathogenic —
RS1057518187 SOX11 Health Risk Pathogenic —
RS1057518188 FBN1 Health Risk Pathogenic —
RS1057518190 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1057518191 ELANE Health Risk Pathogenic —
RS1057518192 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1057518193 ZEB2 Health Risk Pathogenic —
RS1057518194 SLC35A2 Health Risk Pathogenic —
RS1057518195 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057518196 FOXG1 Health Risk Pathogenic —
RS1057518198 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1057518199 TBX5 Health Risk Pathogenic —
RS1057518200 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS1057518201 TSC2 Health Risk Pathogenic —
RS1057518202 BRWD3 Health Risk Pathogenic —
RS1057518203 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1057518204 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS1057518206 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome-like disorder with loose anagen hair 1
RS1057518207 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057518208 ADAM9 Health Risk Pathogenic —
RS1057518210 RHO Health Risk Pathogenic —
RS1057518211 EDA Health Risk Likely pathogenic —
RS1057518212 FLG Health Risk Pathogenic —
RS1057518213 ARID1B Health Risk Pathogenic —
RS1057518214 PHEX Health Risk Likely pathogenic —
RS1057518215 WAC Health Risk Pathogenic —
RS1057518216 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1057518217 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS1057518218 FGFR1 Health Risk Pathogenic —
RS1057518219 ZMYND11 Health Risk Pathogenic —
RS1057518221 COL1A1 Health Risk Pathogenic —
RS1057518222 SLC4A1 Health Risk Pathogenic —
RS1057518223 FLNA Health Risk Pathogenic/Likely pathogenic —
RS1057518224 GNAS Health Risk Pathogenic —
RS1057518225 ATRX Health Risk Likely pathogenic —
RS1057518226 KIF1A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS1057518228 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057518229 SCN1A Health Risk Pathogenic —
RS1057518230 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057518232 SALL1 Health Risk Pathogenic —
RS1057518233 WAC Health Risk Pathogenic —
RS1057518236 CHD2 Health Risk Pathogenic —
RS1057518237 HEXB Health Risk Pathogenic —
RS1057518243 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1057518244 PDE6C Health Risk Likely pathogenic —
RS1057518245 CASK Health Risk Pathogenic —
RS1057518246 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057518247 CP Health Risk Pathogenic —
RS1057518249 TUBG1 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 4, Complex cortical dysplasia with other brain malformations 4
RS1057518250 DYNC1H1 Health Risk Likely pathogenic —
RS1057518252 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057518255 DDX3X Health Risk Likely pathogenic —
RS1057518256 ARID1B Health Risk Pathogenic —
RS1057518258 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1057518262 MED13L Health Risk Pathogenic —
RS1057518268 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1057518269 ASPM Health Risk Pathogenic —
RS1057518272 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1057518273 SALL1 Health Risk Pathogenic —
RS1057518275 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057518276 OCRL Health Risk Likely pathogenic —
RS1057518281 FOXP3 Health Risk Likely pathogenic —
RS1057518282 SOX11 Health Risk Likely pathogenic —
RS1057518284 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057518286 NSD1 Health Risk Likely pathogenic —
RS1057518287 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS1057518288 AARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
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