SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS111033306 SLC26A4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pendred syndrome
RS111033307 SLC26A4 Health Risk Pathogenic Pendred syndrome, Rare genetic deafness
RS111033308 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Pendred syndrome
RS111033309 SLC26A4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pendred syndrome
RS111033310 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS111033311 SLC26A4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pendred syndrome
RS111033312 SLC26A4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4
RS111033313 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS111033314 SLC26A4 Health Risk Pathogenic Rare genetic deafness, Pendred syndrome
RS111033316 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Pendred syndrome
RS111033317 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033318 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Pendred syndrome
RS111033319 MT-TS1 Health Risk Pathogenic Mitochondrial cytochrome c oxidase deficiency, Deafness
RS111033327 GJB2 Health Risk Conflicting classifications of pathogenicity Ichthyosis, hystrix-like
RS111033329 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS111033330 OTOF Health Risk Conflicting classifications of pathogenicity Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 9
RS111033334 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS111033335 GJB2 Health Risk Pathogenic/Likely pathogenic Hearing loss, Rare genetic deafness
RS111033337 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Usher syndrome type 1B
RS111033341 OTOF Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033342 OTOF Health Risk Likely pathogenic Rare genetic deafness, Nonsyndromic genetic hearing loss
RS111033343 POU3F4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033344 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS111033345 POU3F4 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS111033347 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS111033348 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS111033349 OTOF Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 9
RS111033351 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS111033352 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS111033360 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, 8 conditions
RS111033361 GJB2 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Autosomal dominant nonsyndromic hearing loss 3A
RS111033363 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1F
RS111033364 USH2A Health Risk Pathogenic Usher syndrome type 2A, Hearing impairment
RS111033366 OTOF Health Risk Conflicting classifications of pathogenicity —
RS111033367 USH2A Health Risk Pathogenic Usher syndrome type 2A, USH2A-related disorder
RS111033369 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS111033370 OTOF Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033373 OTOF Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 9
RS111033375 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS111033376 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS111033379 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS111033380 SLC26A4 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4
RS111033382 USH2A Health Risk Likely pathogenic Rare genetic deafness, Usher syndrome type 2A
RS111033383 OTOF Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 9
RS111033384 OTOF Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033385 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS111033386 USH2A Health Risk Pathogenic Rare genetic deafness, Retinal dystrophy
RS111033389 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033390 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033393 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS111033395 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Retinitis pigmentosa 39
RS111033396 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS111033400 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033401 GJB2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A
RS111033402 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS111033403 MYO7A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1
RS111033404 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033405 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness
RS111033407 SLC26A4 Health Risk Pathogenic Rare genetic deafness, Pendred syndrome
RS111033408 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS111033412 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS111033414 USH2A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS111033415 MYO7A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 1
RS111033416 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS111033417 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinal dystrophy
RS111033418 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 2A
RS111033419 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS111033420 GJB2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 1A
RS111033423 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS111033424 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS111033426 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Usher syndrome type 1
RS111033431 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS111033433 MYO7A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS111033434 CLRN1 Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 3A
RS111033436 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS111033437 MYO7A Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS111033439 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS111033443 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Pendred syndrome
RS111033445 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS111033446 OTOF Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033447 OTOF Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS111033448 MYO7A Health Risk Pathogenic Rare genetic deafness, Hearing loss
RS111033449 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS111033450 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, USH2A-related disorder
RS111033451 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness
RS111033453 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111033454 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Pendred syndrome
RS111033455 OTOF Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033456 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS111033457 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111033458 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111033459 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS111033461 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111033472 USH2A Health Risk Pathogenic —
RS111033473 CDH23 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033475 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111033477 MYO7A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Ear malformation
RS111033478 OTOF Health Risk Pathogenic —
RS111033479 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS111033480 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome
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