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
RS2520533109 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520533213 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520533445 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520534125 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520534155 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520537460 BRWD3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520538578 NXT2 Health Risk Likely pathogenic Male infertility, Male infertility
RS2520540378 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer
RS2520540499 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520540555 PHF6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520541219 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520543281 PHF6 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520543380 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520543421 PHF6 Health Risk Likely pathogenic —
RS2520543764 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma
RS2520551116 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520551638 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520551746 BTK Health Risk Likely pathogenic —
RS2520551846 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520553985 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520558559 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520558980 BRWD3 Health Risk Likely pathogenic Intellectual disability, X-linked 93
RS2520563603 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2520564210 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520564761 BTK Health Risk Likely pathogenic —
RS2520567227 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2520570662 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520571628 BTK Health Risk Likely pathogenic BTK-related disorder, BTK-related disorder
RS2520573356 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer
RS2520573512 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520573534 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520573659 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520574221 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520574237 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520578180 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2520579087 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520581934 STEEP1 Health Risk Likely pathogenic Intellectual disability, X-linked 107
RS2520588778 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2520589572 BTK Health Risk Pathogenic —
RS2520589915 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520590361 SYP Health Risk Likely pathogenic Intellectual disability, X-linked 96
RS2520596891 IQSEC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520597428 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2520605467 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520610529 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520610891 BTK Health Risk Pathogenic —
RS2520611258 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520611305 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520611413 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520611436 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520611496 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520620698 UBE2A Health Risk Pathogenic Syndromic X-linked intellectual disability Nascimento type, Nonpapillary renal cell carcinoma
RS2520635065 DOCK11 Health Risk Pathogenic Autoinflammatory disease, multisystem
RS2520644434 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2520644535 PHF6 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520644840 PHF6 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520646399 DCAF12L1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2520655535 UBE2A Health Risk Conflicting classifications of pathogenicity —
RS2520655936 UBE2A Health Risk Pathogenic —
RS2520655961 UBE2A Health Risk Likely pathogenic Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
RS2520656988 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520657043 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520657374 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520659812 UBE2A Health Risk Likely pathogenic Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
RS2520668139 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520668256 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520668390 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520668410 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520674759 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520676263 PHF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2520676862 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2520692544 GRIA3 Health Risk Likely pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2520693959 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520694308 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2520695220 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2520695634 CACNA1F Health Risk Pathogenic —
RS2520696464 FRMD7 Health Risk Pathogenic —
RS2520696502 FRMD7 Health Risk Pathogenic —
RS2520699165 FRMD7 Health Risk Pathogenic —
RS2520702216 CACNA1F Health Risk Pathogenic —
RS2520704437 CACNA1F Health Risk Likely pathogenic —
RS2520715667 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS2520722271 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520722295 PCDH19 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2520731322 FRMD7 Health Risk Likely pathogenic Nystagmus 1, congenital
RS2520742477 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2520742671 CACNA1F Health Risk Likely pathogenic —
RS2520744315 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520747479 CACNA1F Health Risk Likely pathogenic —
RS2520748309 MT-CYB Health Risk Likely pathogenic MELAS syndrome, MELAS syndrome
RS2520754068 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2520754446 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2520754488 FRMD7 Health Risk Pathogenic —
RS2520754627 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS2520754861 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520754916 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520755303 FRMD7 Health Risk Pathogenic —
RS2520756362 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520756537 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520757198 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
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