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
RS2147604088 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147604940 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147605140 CLCN5 Health Risk Conflicting classifications of pathogenicity Proteinuria, low molecular weight
RS2147605245 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2147605585 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147605760 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2147605826 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147606263 CLCN5 Health Risk Likely pathogenic Proteinuria, low molecular weight
RS2147606440 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147607713 CLCN5 Health Risk Pathogenic —
RS2147608548 TEX11 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2147610382 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147610408 DMD Health Risk Pathogenic —
RS2147610488 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147610804 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147612475 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147612526 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147613101 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147613231 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147613503 ARSG;PRKAR1A Health Risk Likely pathogenic —
RS2147613652 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147613866 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2147613901 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147614590 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2147614771 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2147616335 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2147617004 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS2147618314 HDAC8 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2147618372 HDAC8 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2147618568 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2147620247 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147621084 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147621477 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147624939 ALG13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 36
RS2147626590 ALG13 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS2147627388 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147633958 MAGED2 Health Risk Pathogenic —
RS2147635206 DCX Health Risk Likely pathogenic —
RS2147635268 DCX Health Risk Pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2147635738 TANGO2 Health Risk Likely pathogenic —
RS2147641058 ARR3 Health Risk Pathogenic Myopia 26, X-linked
RS2147641837 TCEAL1 Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with gait disturbance
RS2147641920 TCEAL1 Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with gait disturbance
RS2147641927 TCEAL1 Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with gait disturbance
RS2147641982 TCEAL1 Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with gait disturbance
RS2147642131 TCEAL1 Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with gait disturbance
RS2147648412 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147648482 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2147648529 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147648996 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147649257 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147649419 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147649643 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147649959 TEX11 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2147657533 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, Thyroid cancer
RS2147657763 COL4A5 Health Risk Pathogenic —
RS2147658893 TEX11 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2147662902 CHM Health Risk Pathogenic —
RS2147662906 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2147662919 CHM Health Risk Pathogenic —
RS2147662931 CHM Health Risk Pathogenic —
RS2147663011 CHM Health Risk Pathogenic —
RS2147663153 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2147663351 CHM Health Risk Pathogenic —
RS2147663370 CHM Health Risk Pathogenic —
RS2147663380 CHM Health Risk Pathogenic Retinal dystrophy, Choroideremia
RS2147663406 CHM Health Risk Pathogenic —
RS2147663454 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2147663521 CHM Health Risk Pathogenic —
RS2147664601 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2147665632 CHM Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2147665683 CHM Health Risk Pathogenic —
RS2147665799 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2147665855 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS2147665924 CHM Health Risk Likely pathogenic —
RS2147666884 BRWD3 Health Risk Likely pathogenic —
RS2147667154 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS2147667288 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147667298 CHM Health Risk Pathogenic —
RS2147667381 KDM6A Health Risk Likely pathogenic —
RS2147667424 CHM Health Risk Pathogenic —
RS2147667658 CHM Health Risk Pathogenic —
RS2147667670 CHM Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2147667674 CHM Health Risk Pathogenic Choroideremia, Nonpapillary renal cell carcinoma
RS2147674472 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147674587 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147675220 OGT Health Risk Likely pathogenic —
RS2147675263 CHM Health Risk Pathogenic —
RS2147675445 CHM Health Risk Pathogenic —
RS2147675545 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147675634 CHM Health Risk Pathogenic —
RS2147676070 CHM Health Risk Pathogenic —
RS2147676177 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2147676302 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS2147676556 CHM Health Risk Pathogenic —
RS2147676806 JAK3 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147676896 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS2147678255 PCNT Health Risk Likely pathogenic See cases, See cases
RS2147678318 DYM Health Risk Pathogenic —
RS2147678364 BRWD3 Health Risk Likely pathogenic —
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