DEFB114 - SNP

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Select item 15381931.

rs1538193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49963262 (GRCh38)
6:49930975 (GRCh37)
Canonical SPDI:: NC_000006.12:49963261:T:A
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.442827/8365 (ALFA)
T=0.305556/11 (Siberian)
T=0.323256/139 (SGDP_PRJ)
T=0.401606/106301 (TOPMED)
T=0.402439/132 (HapMap)
T=0.406542/87 (Vietnamese)
T=0.408495/2046 (1000Genomes)
T=0.41553/57418 (GnomAD)
A=0.425/17 (GENOME_DK)
T=0.448052/1311 (KOREAN)
T=0.449074/97 (Qatari)
T=0.459044/7693 (TOMMO)
T=0.459061/841 (Korea1K)
T=0.469643/2104 (Estonian)
T=0.485/291 (NorthernSweden)
A=0.487594/1808 (TWINSUK)
A=0.487976/487 (GoNL)
A=0.491956/1896 (ALSPAC)
HGVS:: NC_000006.12:g.49963262T>A, NC_000006.11:g.49930975T>A

Select item 47119372.

rs4711937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:49964327 (GRCh38)
6:49932040 (GRCh37)
Canonical SPDI:: NC_000006.12:49964326:A:C,NC_000006.12:49964326:A:G,NC_000006.12:49964326:A:T
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.478772/9044 (ALFA)
T=0./0 (KOREAN)
A=0.315789/12 (Siberian)
A=0.335784/137 (SGDP_PRJ)
A=0.419811/89 (Vietnamese)
G=0.425/17 (GENOME_DK)
A=0.458779/7687 (TOMMO)
A=0.459061/841 (Korea1K)
A=0.470089/2106 (Estonian)
A=0.473875/125430 (TOPMED)
A=0.4797/2402 (1000Genomes)
A=0.481481/104 (Qatari)
A=0.484831/67024 (GnomAD)
A=0.486667/292 (NorthernSweden)
G=0.486785/1805 (TWINSUK)
G=0.488978/488 (GoNL)
G=0.491178/1893 (ALSPAC)
HGVS:: NC_000006.12:g.49964327A>C, NC_000006.12:g.49964327A>G, NC_000006.12:g.49964327A>T, NC_000006.11:g.49932040A>C, NC_000006.11:g.49932040A>G, NC_000006.11:g.49932040A>T

Select item 47119383.

rs4711938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:49964685 (GRCh38)
6:49932398 (GRCh37)
Canonical SPDI:: NC_000006.12:49964684:A:C,NC_000006.12:49964684:A:G,NC_000006.12:49964684:A:T
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.47946/9057 (ALFA)
T=0./0 (KOREAN)
A=0.305556/11 (Siberian)
A=0.336585/138 (SGDP_PRJ)
A=0.4/84 (Vietnamese)
G=0.425/17 (GENOME_DK)
A=0.458434/7682 (TOMMO)
A=0.459061/841 (Korea1K)
A=0.469866/2105 (Estonian)
A=0.473875/125430 (TOPMED)
A=0.4797/2402 (1000Genomes)
A=0.481481/104 (Qatari)
A=0.485192/67004 (GnomAD)
A=0.486667/292 (NorthernSweden)
G=0.486785/1805 (TWINSUK)
G=0.488978/488 (GoNL)
G=0.4904/1890 (ALSPAC)
HGVS:: NC_000006.12:g.49964685A>C, NC_000006.12:g.49964685A>G, NC_000006.12:g.49964685A>T, NC_000006.11:g.49932398A>C, NC_000006.11:g.49932398A>G, NC_000006.11:g.49932398A>T

Select item 47151654.

rs4715165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:49964398 (GRCh38)
6:49932111 (GRCh37)
Canonical SPDI:: NC_000006.12:49964397:T:A,NC_000006.12:49964397:T:C
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.45485/12230 (ALFA)
T=0.315789/12 (Siberian)
T=0.335784/137 (SGDP_PRJ)
C=0.425/17 (GENOME_DK)
T=0.425234/91 (Vietnamese)
T=0.446306/1305 (KOREAN)
T=0.458637/7685 (TOMMO)
T=0.459061/841 (Korea1K)
T=0.469866/2105 (Estonian)
T=0.474068/125481 (TOPMED)
T=0.477778/903 (HapMap)
T=0.479856/2403 (1000Genomes)
T=0.481481/104 (Qatari)
T=0.483333/290 (NorthernSweden)
C=0.486785/1805 (TWINSUK)
C=0.488978/488 (GoNL)
C=0.490919/1892 (ALSPAC)
HGVS:: NC_000006.12:g.49964398T>A, NC_000006.12:g.49964398T>C, NC_000006.11:g.49932111T>A, NC_000006.11:g.49932111T>C

Select item 93495095.

rs9349509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:49962216 (GRCh38)
6:49929929 (GRCh37)
Canonical SPDI:: NC_000006.12:49962215:A:C,NC_000006.12:49962215:A:G
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.474691/12135 (ALFA)
A=0.315789/12 (Siberian)
A=0.336585/138 (SGDP_PRJ)
A=0.398058/82 (Vietnamese)
C=0.425/17 (GENOME_DK)
A=0.446758/1309 (KOREAN)
A=0.459061/841 (Korea1K)
A=0.459106/7694 (TOMMO)
A=0.469866/2105 (Estonian)
A=0.474276/125536 (TOPMED)
A=0.476852/103 (Qatari)
A=0.4797/2402 (1000Genomes)
A=0.480277/901 (HapMap)
A=0.48495/290 (NorthernSweden)
A=0.48522/67169 (GnomAD)
C=0.486246/1803 (TWINSUK)
C=0.488978/488 (GoNL)
C=0.490919/1892 (ALSPAC)
HGVS:: NC_000006.12:g.49962216A>C, NC_000006.12:g.49962216A>G, NC_000006.11:g.49929929A>C, NC_000006.11:g.49929929A>G

Select item 93576396.

rs9357639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:49962501 (GRCh38)
6:49930214 (GRCh37)
Canonical SPDI:: NC_000006.12:49962500:A:C,NC_000006.12:49962500:A:G,NC_000006.12:49962500:A:T
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.315789/12 (Siberian)
A=0.316279/136 (SGDP_PRJ)
A=0.395706/129 (HapMap)
A=0.400997/106140 (TOPMED)
A=0.406933/2038 (1000Genomes)
A=0.410377/87 (Vietnamese)
A=0.414899/57339 (GnomAD)
G=0.425/17 (GENOME_DK)
A=0.446721/1308 (KOREAN)
A=0.449074/97 (Qatari)
A=0.458971/7692 (TOMMO)
A=0.459061/841 (Korea1K)
A=0.469196/2102 (Estonian)
A=0.485/291 (NorthernSweden)
G=0.487864/1809 (TWINSUK)
G=0.488978/488 (GoNL)
G=0.491956/1896 (ALSPAC)
HGVS:: NC_000006.12:g.49962501A>C, NC_000006.12:g.49962501A>G, NC_000006.12:g.49962501A>T, NC_000006.11:g.49930214A>C, NC_000006.11:g.49930214A>G, NC_000006.11:g.49930214A>T

Select item 93673807.

rs9367380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49961916 (GRCh38)
6:49929629 (GRCh37)
Canonical SPDI:: NC_000006.12:49961915:G:A
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.367125/6935 (ALFA)
A=0.342105/104 (HapMap)
A=0.344643/1544 (Estonian)
A=0.35/14 (GENOME_DK)
A=0.360302/1336 (TWINSUK)
A=0.360978/50051 (GnomAD)
A=0.365741/79 (Qatari)
G=0.367232/130 (SGDP_PRJ)
A=0.367735/367 (GoNL)
A=0.368967/1422 (ALSPAC)
A=0.381008/100849 (TOPMED)
G=0.388889/14 (Siberian)
A=0.402092/2014 (1000Genomes)
A=0.403333/242 (NorthernSweden)
G=0.439252/94 (Vietnamese)
G=0.453584/1329 (KOREAN)
G=0.462336/847 (Korea1K)
G=0.46698/7827 (TOMMO)
HGVS:: NC_000006.12:g.49961916G>A, NC_000006.11:g.49929629G>A

Select item 93699288.

rs9369928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:49960775 (GRCh38)
6:49928488 (GRCh37)
Canonical SPDI:: NC_000006.12:49960774:A:G,NC_000006.12:49960774:A:T
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.486539/8747 (ALFA)
A=0.315789/12 (Siberian)
A=0.330097/136 (SGDP_PRJ)
G=0.425/17 (GENOME_DK)
A=0.447404/1310 (KOREAN)
A=0.458723/7688 (TOMMO)
A=0.459607/842 (Korea1K)
A=0.471429/2112 (Estonian)
A=0.472009/124936 (TOPMED)
A=0.476852/103 (Qatari)
A=0.477983/2394 (1000Genomes)
G=0.483279/1792 (TWINSUK)
A=0.48413/66961 (GnomAD)
G=0.484691/1868 (ALSPAC)
A=0.485/291 (NorthernSweden)
G=0.487976/487 (GoNL)
HGVS:: NC_000006.12:g.49960775A>G, NC_000006.12:g.49960775A>T, NC_000006.11:g.49928488A>G, NC_000006.11:g.49928488A>T

Select item 93818339.

rs9381833 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:49960767 (GRCh38)
6:49928480 (GRCh37)
Canonical SPDI:: NC_000006.12:49960766:C:G,NC_000006.12:49960766:C:T
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.378308/7147 (ALFA)
T=0.343304/1538 (Estonian)
T=0.35/14 (GENOME_DK)
T=0.358684/1330 (TWINSUK)
T=0.364037/1403 (ALSPAC)
C=0.366848/135 (SGDP_PRJ)
T=0.367735/367 (GoNL)
T=0.380281/52618 (GnomAD)
C=0.388889/14 (Siberian)
T=0.402335/106494 (TOPMED)
T=0.402778/87 (Qatari)
T=0.403333/242 (NorthernSweden)
T=0.422392/2115 (1000Genomes)
T=0.449324/532 (HapMap)
C=0.45321/1327 (KOREAN)
C=0.462882/848 (Korea1K)
C=0.466936/7826 (TOMMO)
HGVS:: NC_000006.12:g.49960767C>G, NC_000006.12:g.49960767C>T, NC_000006.11:g.49928480C>G, NC_000006.11:g.49928480C>T

Select item 947370310.

rs9473703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49964703 (GRCh38)
6:49932416 (GRCh37)
Canonical SPDI:: NC_000006.12:49964702:G:A
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0./0 (HapMap)
HGVS:: NC_000006.12:g.49964703G>A, NC_000006.11:g.49932416G>A

Select item 1196244411.

rs11962444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49965258 (GRCh38)
6:49932971 (GRCh37)
Canonical SPDI:: NC_000006.12:49965257:T:G
Gene:: DEFB114 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (HapMap)
HGVS:: NC_000006.12:g.49965258T>G, NC_000006.11:g.49932971T>G

Select item 1220012412.

rs12200124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:49965442 (GRCh38)
6:49933155 (GRCh37)
Canonical SPDI:: NC_000006.12:49965441:A:C
Gene:: DEFB114 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.412694/17783 (ALFA)
C=0.344643/1544 (Estonian)
C=0.35/14 (GENOME_DK)
C=0.36246/1344 (TWINSUK)
A=0.363158/138 (SGDP_PRJ)
C=0.367735/367 (GoNL)
C=0.370265/1427 (ALSPAC)
A=0.382353/13 (Siberian)
C=0.40301/241 (NorthernSweden)
C=0.414759/57109 (GnomAD)
C=0.435185/94 (Qatari)
C=0.437338/115759 (TOPMED)
C=0.439394/145 (HapMap)
A=0.452218/1325 (KOREAN)
A=0.453704/98 (Vietnamese)
C=0.455965/2283 (1000Genomes)
A=0.460699/844 (Korea1K)
A=0.467321/7832 (TOMMO)
HGVS:: NC_000006.12:g.49965442A>C, NC_000006.11:g.49933155A>C

Select item 1220101513.

rs12201015 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49960990 (GRCh38)
6:49928703 (GRCh37)
Canonical SPDI:: NC_000006.12:49960989:A:G
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.004553/86 (ALFA)
G=0./0 (HapMap)
G=0.001563/7 (Estonian)
G=0.001718/9 (1000Genomes)
G=0.003892/15 (ALSPAC)
G=0.00433/1146 (TOPMED)
G=0.004435/616 (GnomAD)
G=0.00463/1 (Qatari)
G=0.006203/23 (TWINSUK)
G=0.014028/14 (GoNL)
A=0.5/4 (SGDP_PRJ)
HGVS:: NC_000006.12:g.49960990A>G, NC_000006.11:g.49928703A>G

Select item 1773678214.

rs17736782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49960403 (GRCh38)
6:49928116 (GRCh37)
Canonical SPDI:: NC_000006.12:49960402:G:A
Gene:: DEFB114 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.110899/14494 (ALFA)
A=0.005822/17 (KOREAN)
A=0.008884/149 (TOMMO)
A=0.009804/6 (Vietnamese)
A=0.049521/31 (Chileans)
A=0.051268/97 (HapMap)
A=0.058089/291 (1000Genomes)
A=0.06338/72 (Daghestan)
A=0.075/3 (GENOME_DK)
A=0.084174/22280 (TOPMED)
A=0.087963/19 (Qatari)
A=0.095493/23491 (GnomAD_exomes)
A=0.095935/11492 (ExAC)
A=0.096689/13443 (GnomAD)
A=0.1012/1316 (GoESP)
A=0.104869/56 (MGP)
A=0.11/66 (NorthernSweden)
A=0.121173/467 (ALSPAC)
A=0.122244/122 (GoNL)
A=0.125135/464 (TWINSUK)
A=0.161184/49 (FINRISK)
A=0.184821/828 (Estonian)
G=0.48/24 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000006.12:g.49960403G>A, NC_000006.11:g.49928116G>A, NM_001037499.2:c.99C>T, NM_001037499.1:c.99C>T

Select item 3406683615.

rs34066836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49962719 (GRCh38)
6:49930432 (GRCh37)
Canonical SPDI:: NC_000006.12:49962718:G:A
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.49962719G>A, NC_000006.11:g.49930432G>A

Select item 3501764416.

rs35017644 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:49960922 (GRCh38)
6:49928636 (GRCh37)
Canonical SPDI:: NC_000006.12:49960922:TTTTT:TTTTTT
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.49960927dup, NC_000006.11:g.49928640dup

Select item 3537341917.

rs35373419 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:49962702 (GRCh38)
6:49930416 (GRCh37)
Canonical SPDI:: NC_000006.12:49962702:CC:CCC
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.49962704dup, NC_000006.11:g.49930417dup

Select item 5617125018.

rs56171250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49962094 (GRCh38)
6:49929807 (GRCh37)
Canonical SPDI:: NC_000006.12:49962093:T:G
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.49962094T>G, NC_000006.11:g.49929807T>G

Select item 7373727019.

rs73737270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49959910 (GRCh38)
6:49927623 (GRCh37)
Canonical SPDI:: NC_000006.12:49959909:C:T
Gene:: DEFB114 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.119164/2251 (ALFA)
T=0.005818/17 (KOREAN)
T=0.008175/137 (TOMMO)
T=0.058089/291 (1000Genomes)
T=0.075/3 (GENOME_DK)
T=0.084159/22276 (TOPMED)
T=0.087963/19 (Qatari)
T=0.096739/13470 (GnomAD)
T=0.111667/67 (NorthernSweden)
T=0.121173/467 (ALSPAC)
T=0.121242/121 (GoNL)
T=0.124865/463 (TWINSUK)
T=0.184821/828 (Estonian)
C=0.48/24 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000006.12:g.49959910C>T, NC_000006.11:g.49927623C>T

Select item 7373727220.

rs73737272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:49961750 (GRCh38)
6:49929463 (GRCh37)
Canonical SPDI:: NC_000006.12:49961749:C:A,NC_000006.12:49961749:C:T
Gene:: DEFB114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000766/11 (ALFA)
T=0./0 (TWINSUK)
T=0.000142/2 (TOMMO)
T=0.000519/2 (ALSPAC)
T=0.001874/9 (1000Genomes)
T=0.002873/399 (GnomAD)
T=0.003068/812 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.49961750C>A, NC_000006.12:g.49961750C>T, NC_000006.11:g.49929463C>A, NC_000006.11:g.49929463C>T

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