SNP Links for Gene (Select 1673) - SNP

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Select item 14902441911.

rs1490244191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:7893324 (GRCh38)
8:7750846 (GRCh37)
Canonical SPDI:: NC_000008.11:7893323:A:G,NC_000008.11:7893323:A:T
Gene:: DEFB4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7893324A>G, NC_000008.11:g.7893324A>T, NC_000008.10:g.7750846A>G, NC_000008.10:g.7750846A>T, NG_023301.1:g.3648A>G, NG_023301.1:g.3648A>T, NW_018654717.1:g.801149A>G, NW_018654717.1:g.801149A>T

Select item 14892731132.

rs1489273113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7895083 (GRCh38)
8:7752605 (GRCh37)
Canonical SPDI:: NC_000008.11:7895082:A:G
Gene:: DEFB4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000011/1 (GnomAD)
HGVS:: NC_000008.11:g.7895083A>G, NC_000008.10:g.7752605A>G, NG_023301.1:g.5407A>G, NW_018654717.1:g.802900A>G

Select item 14891441273.

rs1489144127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:7893928 (GRCh38)
8:7751450 (GRCh37)
Canonical SPDI:: NC_000008.11:7893927:G:T
Gene:: DEFB4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7893928G>T, NC_000008.10:g.7751450G>T, NG_023301.1:g.4252G>T, NW_018654717.1:g.801753G>T

Select item 14883795404.

rs1488379540 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14881661585.

rs1488166158 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14873926346.

rs1487392634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7894182 (GRCh38)
8:7751704 (GRCh37)
Canonical SPDI:: NC_000008.11:7894181:C:T
Gene:: DEFB4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00051/6 (ALFA)
T=0.00034/32 (GnomAD)
HGVS:: NC_000008.11:g.7894182C>T, NC_000008.10:g.7751704C>T, NG_023301.1:g.4506C>T, NW_018654717.1:g.802007C>T

Select item 14871945947.

rs1487194594 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:7893695 (GRCh38)
8:7751217 (GRCh37)
Canonical SPDI:: NC_000008.11:7893694:GGG:GG
Gene:: DEFB4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7893697del, NC_000008.10:g.7751219del, NG_023301.1:g.4021del, NW_018654717.1:g.801522del

Select item 14871382598.

rs1487138259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7896904 (GRCh38)
8:7754426 (GRCh37)
Canonical SPDI:: NC_000008.11:7896903:C:T
Gene:: DEFB4A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00012/7 (GnomAD)
HGVS:: NC_000008.11:g.7896904C>T, NC_000008.10:g.7754426C>T, NG_023301.1:g.7228C>T, NW_018654717.1:g.804707C>T

Select item 14867726189.

rs1486772618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7894601 (GRCh38)
8:7752123 (GRCh37)
Canonical SPDI:: NC_000008.11:7894600:C:G
Gene:: DEFB4A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7894601C>G, NC_000008.10:g.7752123C>G, NG_023301.1:g.4925C>G, NW_018654717.1:g.802427C>G, NM_004942.3:c.-112C>G

Select item 148665964610.

rs1486659646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7895236 (GRCh38)
8:7752758 (GRCh37)
Canonical SPDI:: NC_000008.11:7895235:A:C
Gene:: DEFB4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7895236A>C, NC_000008.10:g.7752758A>C, NG_023301.1:g.5560A>C, NW_018654717.1:g.803053A>C

Select item 148608425011.

rs1486084250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:7894551 (GRCh38)
8:7752073 (GRCh37)
Canonical SPDI:: NC_000008.11:7894550:G:C
Gene:: DEFB4A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7894551G>C, NC_000008.10:g.7752073G>C, NG_023301.1:g.4875G>C, NW_018654717.1:g.802377G>C

Select item 148523710512.

rs1485237105 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:7893091 (GRCh38)
8:7750613 (GRCh37)
Canonical SPDI:: NC_000008.11:7893090:C:
Gene:: DEFB4A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7893091del, NC_000008.10:g.7750613del, NG_023301.1:g.3415del, NW_018654717.1:g.800916del

Select item 148502833613.

rs1485028336 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGA>- [Show Flanks]
Chromosome:: 8:7895821 (GRCh38)
8:7753343 (GRCh37)
Canonical SPDI:: NC_000008.11:7895804:GGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGA:GGGAGGGAGGGAGGGA
Gene:: DEFB4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAGGGAGGGAGGGA=0.00093/11 (ALFA)
-=0.00113/6 (TOMMO)
HGVS:: NC_000008.11:g.7895821_7895852del, NC_000008.10:g.7753343_7753374del, NG_023301.1:g.6145_6176del, NW_018654717.1:g.803615_803657delinsGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGA, NW_018654717.1:g.803615_803657delinsGGGAGGGAGGGAGGGA

Select item 148382695814.

rs1483826958 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:7893642 (GRCh38)
8:7751164 (GRCh37)
Canonical SPDI:: NC_000008.11:7893641:C:
Gene:: DEFB4A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000008.11:g.7893642del, NC_000008.10:g.7751164del, NG_023301.1:g.3966del, NW_018654717.1:g.801467del

Select item 148355183715.

rs1483551837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:7893783 (GRCh38)
8:7751305 (GRCh37)
Canonical SPDI:: NC_000008.11:7893782:G:A,NC_000008.11:7893782:G:C,NC_000008.11:7893782:G:T
Gene:: DEFB4A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0./0 (SGDP_PRJ)
HGVS:: NC_000008.11:g.7893783G>A, NC_000008.11:g.7893783G>C, NC_000008.11:g.7893783G>T, NC_000008.10:g.7751305G>A, NC_000008.10:g.7751305G>C, NC_000008.10:g.7751305G>T, NG_023301.1:g.4107G>A, NG_023301.1:g.4107G>C, NG_023301.1:g.4107G>T, NW_018654717.1:g.801608G>A, NW_018654717.1:g.801608G>C, NW_018654717.1:g.801608G>T

Select item 148257060316.

rs1482570603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:7893558 (GRCh38)
8:7751080 (GRCh37)
Canonical SPDI:: NC_000008.11:7893557:C:G,NC_000008.11:7893557:C:T
Gene:: DEFB4A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.7893558C>G, NC_000008.11:g.7893558C>T, NC_000008.10:g.7751080C>G, NC_000008.10:g.7751080C>T, NG_023301.1:g.3882C>G, NG_023301.1:g.3882C>T, NW_018654717.1:g.801383C>G, NW_018654717.1:g.801383C>T

Select item 148133948317.

rs1481339483 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:7894944 (GRCh38)
8:7752466 (GRCh37)
Canonical SPDI:: NC_000008.11:7894935:CTCTCTCTCT:CTCTCTCT
Gene:: DEFB4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCTCTCT=0./0 (ALFA)
HGVS:: NC_000008.11:g.7894936CT[4], NC_000008.10:g.7752458CT[4], NG_023301.1:g.5260CT[4], NW_018654717.1:g.802762CT[4]

Select item 148007437318.

rs1480074373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7892691 (GRCh38)
8:7750213 (GRCh37)
Canonical SPDI:: NC_000008.11:7892690:G:A
Gene:: DEFB4A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7892691G>A, NC_000008.10:g.7750213G>A, NG_001146.9:g.167C>T, NW_018654717.1:g.5489979G>A, NG_023301.1:g.3015G>A

Select item 147902031019.

rs1479020310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 8:7895802 (GRCh38)
8:7753324 (GRCh37)
Canonical SPDI:: NC_000008.11:7895801:A:C,NC_000008.11:7895801:A:G,NC_000008.11:7895801:A:T
Gene:: DEFB4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.04348/8 (GnomAD)
T=0.16667/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.7895802A>C, NC_000008.11:g.7895802A>G, NC_000008.11:g.7895802A>T, NC_000008.10:g.7753324A>C, NC_000008.10:g.7753324A>G, NC_000008.10:g.7753324A>T, NG_023301.1:g.6126A>C, NG_023301.1:g.6126A>G, NG_023301.1:g.6126A>T, NW_018654717.1:g.803612A>C, NW_018654717.1:g.803612A>G, NW_018654717.1:g.803612A>T

Select item 147894076720.

rs1478940767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7895775 (GRCh38)
8:7753297 (GRCh37)
Canonical SPDI:: NC_000008.11:7895774:A:G
Gene:: DEFB4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/2 (GnomAD)
HGVS:: NC_000008.11:g.7895775A>G, NC_000008.10:g.7753297A>G, NG_023301.1:g.6099A>G, NW_018654717.1:g.803592A>G

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