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GJB2

From SNPedia

is agene
is mentioned by
Full namegap junction protein, beta 2, 26kDa
EntrezGene2706
PheGenI2706
VariationViewer2706
ClinVarGJB2
GeneCardsGJB2
dbSNP2706
SADR2706
HugeNav2706
wikipediaGJB2
googleGJB2
gopubmedGJB2
EVSGJB2
HEFalMpGJB2
MyGene2GJB2
23andMeGJB2
UniProtP29033
EnsemblENSG00000165474
OMIM121011
# SNPs131
 Max MagnitudeChromosome positionSummary
i400043420,763,691
i400043520,763,554
i5000064
i5001987
i5001991
i5001992
i5001995
i5001996
i5001997
i5001998
i5002001
i5002002
i5002003
i5004479
i5012697
i5012698
i5012707
i5012709
i6011292
i6011293
i6011302
i6011303
i6011309
i6011314
i6011319
i6011325
i6011362
i6011363
i6011365
i6011369
i6011385
i6011412
i6011417
i6011452
i6011458
i6011464
i6011465
i6011476
i6011479
i6011481
i6011483
i6011485
rs104894395020,189,352
rs104894396320,189,511
rs104894397320,189,353
rs104894398320,189,443
rs104894401020,189,154
rs104894402020,189,359
rs104894403020,189,386
rs104894404620,189,406
... further results

Associated with deafness:

  • DFNB1A (autosomal recessive deafness-1A), and,
  • DFNA3A (autosomal dominant deafness-3A)
DFNA3A (dominantly inherited)
rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs104894413 i5001987, i6011479 c.131G>C, (p.Trp44Ser) 121011.0031 Ancestry v2
rs104894407 i6011485 c.132G>C (p.Trp44Cys) 121011.0019
rs28931594 i6011365 c.148G>A (p.Asp50Asn); c.148G>T (p.Asp50Tyr) 121011.0020 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4
rs104894402 i5001995 c.223C>T (p.Arg75Trp) 121011.0011 Ancestry v2
rs28931593 rs28931593 c.224G>A (p.Arg75Gln) 121011.0026 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2
rs104894401 i5001992 c.428G>A (p.Arg143Gln) 121011.0017 Ancestry v2
rs28931595 rs28931595 c.535G>A (p.Asp179Asn) 121011.0028 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2
rs80338950 i5001997 c.551G>A (p.Arg184Gln) 121011.0039
rs104894406 i5001991 c.605G>T (p.Cys202Phe) 121011.0018 Ancestry v2
DFNB1A (recessively inherited)
rsid 23andMe term synonyms (c. or p.) OMIM On chip?
rs786204734 c.-23G>T
rs80338940 c.-23+1G>A 121011.0029
rs111033293 i6011412 c.1A>G (p.Met1Val) Ancestry v2
rs111033401 i6011483 c.9G>A (p.Trp3Ter) Ancestry v2
rs111033451 i6011417 c.19C>T (p.Gln7Ter) Ancestry v2
rs529500747 i6011309 c.23C>T (p.Thr8Met)
rs80338939 c.35delG (p.Gly12Valfs) 121011.0005 Ancestry v2
rs1801002 c.35G>T (p.Gly12Val) 23andMe v3, 23andMe v4, Ancestry v2
rs398123814 i5012697 c.35dupG (p.Val13Cysfs) Ancestry v2
rs111033217 c.44A>C (p.Lys15Thr) Ancestry v2
rs80338941 i6011314 c.56G>C (p.Ser19Thr) Ancestry v2
rs104894396 i5002001 c.71G>A (p.Trp24Ter) 121011.0003 Ancestry v2
rs371024165 i6011464 c.94C>T (p.Arg32Cys) Ancestry v2
rs111033190 c.95G>A (p.Arg32His) Ancestry v2
rs35887622 i5012709, rs35887622 c.101T>C (p.Met34Thr) 121011.0001 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2
rs35887622 c.101T>G (p.Met34Arg) 121011.0001 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4, Ancestry v2
rs72474224 c.109G>A (p.Val37Ile) 121011.0023 23andMe v3, 23andMe v4, Ancestry v2
rs111033296 c.119C>G (p.Ala40Gly) Ancestry v2
rs104894413 c.131G>A (p.Trp44Ter) 121011.0040 Ancestry v2
rs104894407 c.132G>A (p.Trp44Cys)
rs72561723 c.134G>A (p.Gly45Glu) 121011.0033 23andMe v3, 23andMe v4, Ancestry v2
rs104894398 i5001998 c.139G>T (p.Glu47Ter) 121011.0006 Ancestry v2
rs80338942 i4000435, i5012698 c.167delT (p.Leu56Argfs) 121011.0010 Ancestry v2
rs111033297 c.169C>T (p.Gln57Ter) Ancestry v2
rs200023879 c.208C>G (p.Pro70Ala) Ancestry v2
rs104894397 c.229T>C (p.Trp77Arg) 121011.0004 Ancestry v2
rs104894395 i5002003, i6011476 c.230G>A (p.Trp77Ter)
rs80338944 i5002002 c.231G>A (p.Trp77Ter) 121011.0002 Ancestry v2
rs80338943 i5004479 c.235delC (p.Leu79Cysfs) 121011.0014 Ancestry v2
rs781534323 i6011325 c.246C>G (p.Ile82Met) Ancestry v2
rs104894409 c.250G>C (p.Val84Leu) 121011.0032
rs104894409 i6011385 c.250G>A (p.Val84Met) 121011.0037
rs104894409 c.250G>T (p.Val84Leu)
rs80338945 i5000064 c.269T>C (p.Leu90Pro) 121011.0016 Ancestry v2
rs730880338 c.269dupT (p.Val91Serfs)
rs111033299 c.283G>A (p.Val95Met) Ancestry v2
rs786204491 c.290dupA (p.Tyr97Terfs)
rs143343083 i6011303 c.298C>T (p.His100Tyr) Ancestry v2
rs111033204 c.299_300delAT (p.His100Argfs) Ancestry v2
rs111033253 c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) Ancestry v2
rs797045596 c.312_327del16 (p.Lys105Argfs)
rs756484720 c.334_335delAA (p.Lys112Glufs)
rs80338946 i6011319 c.339T>G (p.Ser113Arg) Ancestry v2
rs150529554 i6011369 c.355G>A (p.Glu119Lys) Ancestry v2
rs80338947 c.358_360delGAG (p.Glu120del) 121011.0007 Ancestry v2
rs111033295 i6011292 c.365A>T (p.Lys122Ile) Ancestry v2
rs397516874 i5012707 c.370C>T (p.Gln124Ter) Ancestry v2
rs397516875 i6011362 c.385G>A (p.Glu129Lys)
rs786204690 i6011452 c.408C>A (p.Tyr136Ter)
rs80338948 i5001996 c.427C>T (p.Arg143Trp) 121011.0009 Ancestry v2
rs104894401 i5001992 c.428G>A (p.Arg143Gln) 121011.0017 Ancestry v2
rs767178508 i6011363 c.439G>A (p.Glu147Lys)
rs767178508 c.439G>T (p.Glu147Ter)
rs772264564 i6011458 c.465T>A (p.Tyr155Ter)
rs28931592 rs28931592 c.476A>T (p.Asp159Val) 121011.0024 23andMe v1, 23andMe v2, 23andMe v3, 23andMe v4
rs80338949 c.487A>G (p.Met163Val) Ancestry v2
rs773528125 c.508_511dupAACG (p.Ala171Glufs)
rs80338950 i5001997 c.551G>C (p.Arg184Pro) 121011.0008
rs532203068 c.583A>G (p.Met195Val)
rs771748289 i6011465 c.596C>T (p.Ser199Phe) Ancestry v2
rs786204597 i6011481 c.598G>T (p.Gly200Ter)
rs786204597 c.598G>A (p.Gly200Arg)
rs111033335 c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs)
rs111033294 i6011302 c.617A>G (p.Asn206Ser) Ancestry v2
rs587783646 c.632_633delGT (p.Cys211Leufs)
rs587783647 c.647_650delGATA (p.Arg216Ilefs) Ancestry v2
rs111033194 i6011293 c.670A>C (p.Lys224Gln)