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
RS137853207 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS137853208 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS137853209 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS137853210 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS137853211 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS137853212 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS137853214 RASA1 Health Risk Pathogenic Basal cell carcinoma, somatic
RS137853215 RASA1 Health Risk Pathogenic Basal cell carcinoma, somatic
RS137853217 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS137853218 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Vascular malformation
RS137853219 GH1 Health Risk Pathogenic Ateleiotic dwarfism, Ateleiotic dwarfism
RS137853220 GH1 Health Risk Pathogenic Short stature due to growth hormone qualitative anomaly, Short stature due to growth hormone qualitative anomaly
RS137853221 GH1 Health Risk Pathogenic Short stature due to growth hormone qualitative anomaly, Short stature due to growth hormone qualitative anomaly
RS137853222 GH1 Health Risk Pathogenic Short stature due to growth hormone qualitative anomaly, Short stature due to growth hormone qualitative anomaly
RS137853223 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS137853224 KRT1 Health Risk Pathogenic Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS137853226 GNAI2 Health Risk Pathogenic Thecoma, somatic
RS137853227 GNAI2 Health Risk Pathogenic Ovarian granulosa cell tumor, Adrenocortical tumor
RS137853228 GNAI2 Health Risk Pathogenic Ventricular tachycardia, somatic
RS137853229 RECQL4 Health Risk Pathogenic Rothmund-Thomson syndrome, Baller-Gerold syndrome
RS137853230 RECQL4 Health Risk Pathogenic/Likely pathogenic Rapadilino syndrome, Rapadilino syndrome
RS137853231 RECQL4 Health Risk Pathogenic Rapadilino syndrome, Baller-Gerold syndrome
RS137853232 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, RECQL4-related disorder
RS137853235 HGF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39
RS137853236 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, 6 conditions
RS137853237 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS137853238 HNF1A Health Risk Pathogenic Type 1 diabetes mellitus 20, Monogenic diabetes
RS137853242 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS137853243 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS137853244 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS137853245 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS137853248 HSPG2 Health Risk Pathogenic Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS137853249 HK1 Health Risk Pathogenic Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
RS137853250 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, See cases
RS137853251 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS137853252 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
RS137853253 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS137853254 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS137853255 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS137853256 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS137853257 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS137853258 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, PDHA1-related disorder
RS137853259 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS137853260 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS137853261 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS137853262 OCRL Health Risk Pathogenic Dent disease type 2, Dent disease type 2
RS137853263 OCRL Health Risk Likely pathogenic Dent disease type 2, Lowe syndrome
RS137853264 FGD1 Health Risk Pathogenic/Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS137853266 FGD1 Health Risk Conflicting classifications of pathogenicity Aarskog syndrome, Inborn genetic diseases
RS137853267 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS137853268 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS137853269 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS137853270 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS137853271 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Hypophosphataemia or rickets
RS137853272 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS137853273 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS137853279 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS137853280 ATP7B Health Risk Pathogenic Wilson disease, Developmental and epileptic encephalopathy 93
RS137853281 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS137853282 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS137853283 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS137853284 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS137853285 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS137853287 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS137853289 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS137853290 RLBP1 Health Risk Pathogenic Pigmentary retinal dystrophy, Retinitis punctata albescens
RS137853291 RLBP1 Health Risk Pathogenic/Likely pathogenic Retinitis punctata albescens, RLBP1-related disorder
RS137853292 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS137853293 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS137853294 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS137853295 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS137853296 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS137853297 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS137853298 TIMP3 Health Risk Pathogenic Sorsby fundus dystrophy, Retinal disorder
RS137853299 TIMP3 Health Risk Pathogenic Sorsby fundus dystrophy, Sorsby fundus dystrophy
RS137853300 TIMP3 Health Risk Pathogenic Sorsby fundus dystrophy, Retinal dystrophy
RS137853301 TIMP3 Health Risk Pathogenic Sorsby fundus dystrophy, Sorsby fundus dystrophy
RS137853302 TIMP3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS137853304 ABL1 Health Risk Pathogenic Chronic myelogenous leukemia, BCR-ABL1 positive
RS137853305 TPM2 Health Risk Pathogenic Arthrogryposis, distal
RS137853306 TPM2 Health Risk Pathogenic Congenital myopathy 23, Arthrogryposis
RS137853307 TPM2 Health Risk Likely pathogenic Congenital myopathy 23, Arthrogryposis
RS137853310 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS137853311 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS137853312 FLNA Health Risk Pathogenic/Likely pathogenic Frontometaphyseal dysplasia 1, Oto-palato-digital syndrome
RS137853313 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS137853314 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type I
RS137853315 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS137853316 FLNA Health Risk Pathogenic Otopalatodigital syndrome spectrum disorder, Otopalatodigital syndrome spectrum disorder
RS137853317 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type I
RS137853318 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS137853320 BMP15 Health Risk Pathogenic Premature ovarian failure 4, Premature ovarian failure 4
RS137853321 IKBKG Health Risk Pathogenic Incontinentia pigmenti syndrome, ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
RS137853322 IKBKG Health Risk Conflicting classifications of pathogenicity Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome
RS137853323 IKBKG Health Risk Pathogenic Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome
RS137853324 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS137853325 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS137853326 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS137853327 IKBKG Health Risk Likely pathogenic ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
RS137853328 IKBKG Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
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