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
RS2147419969 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147419990 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147421854 ZC4H2 Health Risk Pathogenic —
RS2147423955 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147424002 BTK Health Risk Pathogenic —
RS2147424169 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147424186 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147424879 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147424988 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147425053 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147425059 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147425786 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147425836 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147425882 TANC2 Health Risk Likely pathogenic Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2147427209 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147427255 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147427470 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147427505 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147427562 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147427580 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147427904 TANC2 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autistic features and language delay, with or without seizures
RS2147428155 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS2147428293 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147429006 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147429013 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147429591 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147429777 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer
RS2147429797 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147429812 BTK Health Risk Pathogenic —
RS2147429948 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147429973 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147430161 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147430166 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147430256 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147431016 BTK Health Risk Likely pathogenic —
RS2147431031 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147431970 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147432469 OPHN1 Health Risk Likely pathogenic —
RS2147432826 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS2147433246 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147434002 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS2147434008 FGD1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147434341 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS2147435100 FGD1 Health Risk Pathogenic —
RS2147435832 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147435884 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147436154 FGD1 Health Risk Pathogenic —
RS2147436223 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS2147436378 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147436590 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2147436623 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147436658 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147436755 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2147437405 ACSL4 Health Risk Pathogenic Intellectual disability, X-linked 63
RS2147439176 NEXMIF Health Risk Pathogenic —
RS2147439257 NEXMIF Health Risk Pathogenic —
RS2147439364 NEXMIF Health Risk Likely pathogenic X-linked intellectual disability, Cantagrel type
RS2147439375 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2147439499 NEXMIF Health Risk Likely pathogenic X-linked intellectual disability, Cantagrel type
RS2147439516 NEXMIF Health Risk Pathogenic Thyroid cancer, nonmedullary
RS2147439558 NEXMIF Health Risk Pathogenic —
RS2147439567 NEXMIF Health Risk Likely pathogenic X-linked intellectual disability, Cantagrel type
RS2147439776 NEXMIF Health Risk Pathogenic —
RS2147439880 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2147439932 NEXMIF Health Risk Pathogenic —
RS2147439956 NEXMIF Health Risk Pathogenic —
RS2147440006 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2147440054 NEXMIF Health Risk Pathogenic —
RS2147440078 NEXMIF Health Risk Pathogenic —
RS2147440148 NEXMIF Health Risk Pathogenic —
RS2147440160 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS2147440346 NEXMIF Health Risk Pathogenic —
RS2147440462 NEXMIF Health Risk Pathogenic —
RS2147440618 NEXMIF Health Risk Pathogenic —
RS2147440709 NEXMIF Health Risk Pathogenic —
RS2147440717 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2147440783 NEXMIF Health Risk Pathogenic —
RS2147440933 NEXMIF Health Risk Pathogenic —
RS2147440953 NEXMIF Health Risk Pathogenic —
RS2147441019 NEXMIF Health Risk Pathogenic —
RS2147441024 NEXMIF Health Risk Pathogenic —
RS2147441229 NEXMIF Health Risk Pathogenic —
RS2147441259 NEXMIF Health Risk Pathogenic —
RS2147441295 NEXMIF Health Risk Pathogenic —
RS2147441408 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS2147441502 NEXMIF Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2147441539 NEXMIF Health Risk Pathogenic —
RS2147442619 NEXMIF Health Risk Likely pathogenic X-linked intellectual disability, Cantagrel type
RS2147443380 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147444867 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147444958 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147445599 FANCB Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group B
RS2147445909 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147445956 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2147447393 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147447513 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147447605 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147447737 CELSR1 Health Risk Conflicting classifications of pathogenicity Mild to moderate NDD, Mild to moderate NDD
RS2147447747 MBTPS2 Health Risk Pathogenic —
RS2147448022 COL4A5 Health Risk Pathogenic —
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