SNP Links for Gene (Select 6046) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14914715551.

rs1491471555 has merged into rs372968072 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:32979047 (GRCh38)
6:32946824 (GRCh37)
Canonical SPDI:: NC_000006.12:32979045:TGT:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00009/6 (GnomAD)
HGVS:: NC_000006.12:g.32979047_32979048del, NC_000006.11:g.32946824_32946825del, NG_042801.1:g.15388_15389del, NT_167248.2:g.4173363_4173364del, NT_167248.1:g.4178959_4178960del, NT_167246.2:g.4398426_4398427insG, NT_167246.2:g.4398431del, NT_167245.2:g.4222578_4222579del, NT_167245.1:g.4228163_4228164del, NT_167246.1:g.4404046_4404047insG, NT_167246.1:g.4404051del

Select item 14914712972.

rs1491471297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:32979059 (GRCh38)
6:32946837 (GRCh37)
Canonical SPDI:: NC_000006.12:32979059:A:AA
Gene:: BRD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000006.12:g.32979060dup, NC_000006.11:g.32946837dup, NG_042801.1:g.15401dup, NT_113891.3:g.4391273dup, NT_113891.2:g.4391379dup, NT_167248.2:g.4173376T>A, NT_167248.2:g.4173376delinsAA, NT_167248.1:g.4178972T>A, NT_167248.1:g.4178972delinsAA, NT_167247.2:g.4278121dup, NT_167247.1:g.4283706dup, NT_167245.2:g.4222591dup, NT_167245.1:g.4228176dup, NT_167249.2:g.4428315dup, NT_167249.1:g.4427613dup

Select item 14910412613.

rs1491041261 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:32979057 (GRCh38)
6:32946834 (GRCh37)
Canonical SPDI:: NC_000006.12:32979055:TGT:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.32979057_32979058del, NC_000006.11:g.32946834_32946835del, NG_042801.1:g.15398_15399del, NT_113891.3:g.4391270_4391271del, NT_113891.2:g.4391376_4391377del, NT_167248.2:g.4173373_4173374del, NT_167248.1:g.4178969_4178970del, NT_167246.2:g.4398436_4398437del, NT_167246.1:g.4404056_4404057del, NT_167247.2:g.4278118_4278119del, NT_167247.1:g.4283703_4283704del, NT_167245.2:g.4222588_4222589del, NT_167245.1:g.4228173_4228174del, NT_167249.2:g.4428312_4428313del, NT_167249.1:g.4427610_4427611del

Select item 14909747874.

rs1490974787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32975002 (GRCh38)
6:32942779 (GRCh37)
Canonical SPDI:: NC_000006.12:32975001:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000264/4 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000006.12:g.32975002C>T, NC_000006.11:g.32942779C>T, NG_042801.1:g.11343C>T, NT_113891.3:g.4387211C>T, NT_113891.2:g.4387317C>T, NT_167248.2:g.4169327C>T, NT_167248.1:g.4174923C>T, NT_167246.2:g.4394386C>T, NT_167246.1:g.4400006C>T, NT_167247.2:g.4274059C>T, NT_167247.1:g.4279644C>T, NT_167249.2:g.4424253C>T, NT_167249.1:g.4423551C>T

Select item 14907997055.

rs1490799705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:32975756 (GRCh38)
6:32943533 (GRCh37)
Canonical SPDI:: NC_000006.12:32975755:G:C,NC_000006.12:32975755:G:T
Gene:: BRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32975756G>C, NC_000006.12:g.32975756G>T, NC_000006.11:g.32943533G>C, NC_000006.11:g.32943533G>T, NG_042801.1:g.12097G>C, NG_042801.1:g.12097G>T, NT_113891.3:g.4387967G>C, NT_113891.3:g.4387967G>T, NT_113891.2:g.4388073G>C, NT_113891.2:g.4388073G>T, NT_167248.2:g.4170077G>C, NT_167248.2:g.4170077G>T, NT_167248.1:g.4175673G>C, NT_167248.1:g.4175673G>T, NT_167246.2:g.4395136G>C, NT_167246.2:g.4395136G>T, NT_167246.1:g.4400756G>C, NT_167246.1:g.4400756G>T, NT_167247.2:g.4274815G>C, NT_167247.2:g.4274815G>T, NT_167247.1:g.4280400G>C, NT_167247.1:g.4280400G>T, NT_167249.2:g.4425009G>C, NT_167249.2:g.4425009G>T, NT_167249.1:g.4424307G>C, NT_167249.1:g.4424307G>T

Select item 14906599216.

rs1490659921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:32980095 (GRCh38)
6:32947872 (GRCh37)
Canonical SPDI:: NC_000006.12:32980094:C:G,NC_000006.12:32980094:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32980095C>G, NC_000006.12:g.32980095C>T, NC_000006.11:g.32947872C>G, NC_000006.11:g.32947872C>T, NG_042801.1:g.16436C>G, NG_042801.1:g.16436C>T, NM_005104.4:c.2109C>G, NM_005104.4:c.2109C>T, NM_005104.3:c.2109C>G, NM_005104.3:c.2109C>T, NM_001113182.3:c.2109C>G, NM_001113182.3:c.2109C>T, NM_001113182.2:c.2109C>G, NM_001113182.2:c.2109C>T, NM_001291986.2:c.1749C>G, NM_001291986.2:c.1749C>T, NM_001291986.1:c.1749C>G, NM_001291986.1:c.1749C>T, NM_001199456.2:c.1968C>G, NM_001199456.2:c.1968C>T, NM_001199456.1:c.1968C>G, NM_001199456.1:c.1968C>T, NM_001199455.1:c.2214C>G, NM_001199455.1:c.2214C>T, NT_113891.3:g.4392310C>G, NT_113891.3:g.4392310C>T, NT_113891.2:g.4392416C>G, NT_113891.2:g.4392416C>T, NT_167248.2:g.4174413C>G, NT_167248.2:g.4174413C>T, NT_167248.1:g.4180009C>G, NT_167248.1:g.4180009C>T, NT_167246.2:g.4399473C>G, NT_167246.2:g.4399473C>T, NT_167246.1:g.4405093C>G, NT_167246.1:g.4405093C>T, NT_167245.2:g.4223628C>G, NT_167245.2:g.4223628C>T, NT_167245.1:g.4229213C>G, NT_167245.1:g.4229213C>T, NT_167249.2:g.4429352C>G, NT_167249.2:g.4429352C>T, NT_167249.1:g.4428650C>G, NT_167249.1:g.4428650C>T, NR_037625.1:n.3815C>G, NR_037625.1:n.3815C>T

Select item 14905937797.

rs1490593779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32971635 (GRCh38)
6:32939412 (GRCh37)
Canonical SPDI:: NC_000006.12:32971634:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.32971635C>T, NC_000006.11:g.32939412C>T, NG_042801.1:g.7976C>T, NM_005104.4:c.-1264C>T, NM_005104.3:c.-1264C>T, NM_001113182.3:c.-1264C>T, NM_001113182.2:c.-1264C>T, NM_001291986.2:c.-1716C>T, NM_001291986.1:c.-1716C>T, NM_001199455.1:c.-1264C>T, NT_113891.3:g.4383844C>T, NT_113891.2:g.4383950C>T, NT_167248.2:g.4165960C>T, NT_167248.1:g.4171556C>T, NT_167246.2:g.4391019C>T, NT_167246.1:g.4396639C>T, NT_167247.2:g.4270692C>T, NT_167247.1:g.4276277C>T, NT_167249.2:g.4370882C>T, NT_167249.1:g.4370180C>T, NR_037625.1:n.351C>T, XM_047419222.1:c.-1264C>T, XM_047419223.1:c.-1264C>T

Select item 14905623448.

rs1490562344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32974110 (GRCh38)
6:32941887 (GRCh37)
Canonical SPDI:: NC_000006.12:32974109:T:C
Gene:: BRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32974110T>C, NC_000006.11:g.32941887T>C, NG_042801.1:g.10451T>C, NT_113891.3:g.4386319T>C, NT_113891.2:g.4386425T>C, NT_167248.2:g.4168435T>C, NT_167248.1:g.4174031T>C, NT_167246.2:g.4393494T>C, NT_167246.1:g.4399114T>C, NT_167247.2:g.4273167T>C, NT_167247.1:g.4278752T>C, NT_167249.2:g.4423361T>C, NT_167249.1:g.4422659T>C

Select item 14905387439.

rs1490538743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32970986 (GRCh38)
6:32938763 (GRCh37)
Canonical SPDI:: NC_000006.12:32970985:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.32970986C>T, NC_000006.11:g.32938763C>T, NG_042801.1:g.7327C>T, NM_001113182.3:c.-1516C>T, NM_001113182.2:c.-1516C>T, NM_001291986.2:c.-1968C>T, NM_001291986.1:c.-1968C>T, NT_113891.3:g.4383195C>T, NT_113891.2:g.4383301C>T, NT_167248.2:g.4165311C>T, NT_167248.1:g.4170907C>T, NT_167246.2:g.4390370C>T, NT_167246.1:g.4395990C>T, NT_167247.2:g.4270043C>T, NT_167247.1:g.4275628C>T, NT_167249.2:g.4370233C>T, NT_167249.1:g.4369531C>T, NR_037625.1:n.99C>T, XM_047419222.1:c.-1516C>T, XM_047419223.1:c.-1516C>T

Select item 149053477510.

rs1490534775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32981035 (GRCh38)
6:32948812 (GRCh37)
Canonical SPDI:: NC_000006.12:32981034:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.32981035C>T, NC_000006.11:g.32948812C>T, NG_042801.1:g.17376C>T, NM_005104.4:c.*317C>T, NM_005104.3:c.*317C>T, NM_001113182.3:c.*317C>T, NM_001113182.2:c.*317C>T, NM_001291986.2:c.*317C>T, NM_001291986.1:c.*317C>T, NM_001199456.2:c.*317C>T, NM_001199456.1:c.*317C>T, NM_001199455.1:c.*317C>T, NT_113891.3:g.4393250C>T, NT_113891.2:g.4393356C>T, NT_167248.2:g.4175353C>T, NT_167248.1:g.4180949C>T, NT_167246.2:g.4400413C>T, NT_167246.1:g.4406033C>T, NT_167245.2:g.4224569C>T, NT_167245.1:g.4230154C>T, NT_167249.2:g.4430292C>T, NT_167249.1:g.4429590C>T, NR_037625.1:n.4429C>T

Select item 149018984911.

rs1490189849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:32979537 (GRCh38)
6:32947314 (GRCh37)
Canonical SPDI:: NC_000006.12:32979536:C:G
Gene:: BRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32979537C>G, NC_000006.11:g.32947314C>G, NG_042801.1:g.15878C>G, NT_113891.3:g.4391750C>G, NT_113891.2:g.4391856C>G, NT_167248.2:g.4173853C>G, NT_167248.1:g.4179449C>G, NT_167246.2:g.4398913C>G, NT_167246.1:g.4404533C>G, NT_167247.2:g.4278598C>G, NT_167247.1:g.4284183C>G, NT_167245.2:g.4223068C>G, NT_167245.1:g.4228653C>G, NT_167249.2:g.4428792C>G, NT_167249.1:g.4428090C>G

Select item 148975604212.

rs1489756042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32971303 (GRCh38)
6:32939080 (GRCh37)
Canonical SPDI:: NC_000006.12:32971302:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.32971303C>T, NC_000006.11:g.32939080C>T, NG_042801.1:g.7644C>T, NT_113891.3:g.4383512C>T, NT_113891.2:g.4383618C>T, NT_167248.2:g.4165628C>T, NT_167248.1:g.4171224C>T, NT_167246.2:g.4390687C>T, NT_167246.1:g.4396307C>T, NT_167247.2:g.4270360C>T, NT_167247.1:g.4275945C>T, NT_167249.2:g.4370550C>T, NT_167249.1:g.4369848C>T

Select item 148967220713.

rs1489672207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:32972053 (GRCh38)
6:32939830 (GRCh37)
Canonical SPDI:: NC_000006.12:32972052:C:G,NC_000006.12:32972052:C:T
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.32972053C>G, NC_000006.12:g.32972053C>T, NC_000006.11:g.32939830C>G, NC_000006.11:g.32939830C>T, NG_042801.1:g.8394C>G, NG_042801.1:g.8394C>T, NM_005104.4:c.-846C>G, NM_005104.4:c.-846C>T, NM_005104.3:c.-846C>G, NM_005104.3:c.-846C>T, NM_001113182.3:c.-846C>G, NM_001113182.3:c.-846C>T, NM_001113182.2:c.-846C>G, NM_001113182.2:c.-846C>T, NM_001291986.2:c.-1298C>G, NM_001291986.2:c.-1298C>T, NM_001291986.1:c.-1298C>G, NM_001291986.1:c.-1298C>T, NM_001199455.1:c.-846C>G, NM_001199455.1:c.-846C>T, NT_113891.3:g.4384262C>G, NT_113891.3:g.4384262C>T, NT_113891.2:g.4384368C>G, NT_113891.2:g.4384368C>T, NT_167248.2:g.4166378C>G, NT_167248.2:g.4166378C>T, NT_167248.1:g.4171974C>G, NT_167248.1:g.4171974C>T, NT_167246.2:g.4391437C>G, NT_167246.2:g.4391437C>T, NT_167246.1:g.4397057C>G, NT_167246.1:g.4397057C>T, NT_167247.2:g.4271110C>G, NT_167247.2:g.4271110C>T, NT_167247.1:g.4276695C>G, NT_167247.1:g.4276695C>T, NT_167249.2:g.4421304C>G, NT_167249.2:g.4421304C>T, NT_167249.1:g.4420602C>G, NT_167249.1:g.4420602C>T, NR_037625.1:n.769C>G, NR_037625.1:n.769C>T, XM_047419222.1:c.-846C>G, XM_047419222.1:c.-846C>T, XM_047419223.1:c.-846C>G, XM_047419223.1:c.-846C>T

Select item 148964569214.

rs1489645692 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 6:32970693 (GRCh38)
6:32938470 (GRCh37)
Canonical SPDI:: NC_000006.12:32970692:GGGG:GGG,NC_000006.12:32970692:GGGG:GGGGG
Gene:: BRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32970696del, NC_000006.12:g.32970696dup, NC_000006.11:g.32938473del, NC_000006.11:g.32938473dup, NG_042801.1:g.7037del, NG_042801.1:g.7037dup, NT_113891.3:g.4382905del, NT_113891.3:g.4382905dup, NT_113891.2:g.4383011del, NT_113891.2:g.4383011dup, NT_167248.2:g.4165021del, NT_167248.2:g.4165021dup, NT_167248.1:g.4170617del, NT_167248.1:g.4170617dup, NT_167246.2:g.4390080del, NT_167246.2:g.4390080dup, NT_167246.1:g.4395700del, NT_167246.1:g.4395700dup, NT_167247.2:g.4269753del, NT_167247.2:g.4269753dup, NT_167247.1:g.4275338del, NT_167247.1:g.4275338dup, NT_167249.2:g.4369943del, NT_167249.2:g.4369943dup, NT_167249.1:g.4369241del, NT_167249.1:g.4369241dup

Select item 148964093115.

rs1489640931 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGGCGGCTCGGCTA [Show Flanks]
Chromosome:: 6:32973092 (GRCh38)
6:32940870 (GRCh37)
Canonical SPDI:: NC_000006.12:32973092:GTGGCGGCTCGGCTA:GTGGCGGCTCGGCTAGTGGCGGCTCGGCTA
Gene:: BRD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: GTGGCGGCTCGGCTA=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.32973093_32973107dup, NC_000006.11:g.32940870_32940884dup, NG_042801.1:g.9434_9448dup, NM_001199456.2:c.-149_-135dup, NM_001199456.1:c.-149_-135dup, NT_113891.3:g.4385302_4385316dup, NT_113891.2:g.4385408_4385422dup, NT_167248.2:g.4167418_4167432dup, NT_167248.1:g.4173014_4173028dup, NT_167246.2:g.4392477_4392491dup, NT_167246.1:g.4398097_4398111dup, NT_167247.2:g.4272150_4272164dup, NT_167247.1:g.4277735_4277749dup, NT_167249.2:g.4422344_4422358dup, NT_167249.1:g.4421642_4421656dup

Select item 148958035316.

rs1489580353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32974290 (GRCh38)
6:32942067 (GRCh37)
Canonical SPDI:: NC_000006.12:32974289:G:A
Gene:: BRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32974290G>A, NC_000006.11:g.32942067G>A, NG_042801.1:g.10631G>A, NT_113891.3:g.4386499G>A, NT_113891.2:g.4386605G>A, NT_167248.2:g.4168615G>A, NT_167248.1:g.4174211G>A, NT_167246.2:g.4393674G>A, NT_167246.1:g.4399294G>A, NT_167247.2:g.4273347G>A, NT_167247.1:g.4278932G>A, NT_167249.2:g.4423541G>A, NT_167249.1:g.4422839G>A

Select item 148952164717.

rs1489521647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:32981659 (GRCh38)
6:32949436 (GRCh37)
Canonical SPDI:: NC_000006.12:32981658:A:C
Gene:: BRD2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.32981659A>C, NC_000006.11:g.32949436A>C, NG_042801.1:g.18000A>C, NT_113891.3:g.4393874A>C, NT_113891.2:g.4393980A>C, NT_167248.2:g.4175977A>C, NT_167248.1:g.4181573A>C, NT_167246.2:g.4401037A>C, NT_167246.1:g.4406657A>C, NT_167245.2:g.4225193A>C, NT_167245.1:g.4230778A>C, NT_167249.2:g.4430916A>C, NT_167249.1:g.4430214A>C

Select item 148935357618.

rs1489353576 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32975668 (GRCh38)
6:32943445 (GRCh37)
Canonical SPDI:: NC_000006.12:32975667:T:C
Gene:: BRD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.32975668T>C, NC_000006.11:g.32943445T>C, NG_042801.1:g.12009T>C, NT_113891.3:g.4387879T>C, NT_113891.2:g.4387985T>C, NT_167248.2:g.4169989T>C, NT_167248.1:g.4175585T>C, NT_167246.2:g.4395048T>C, NT_167246.1:g.4400668T>C, NT_167247.2:g.4274727T>C, NT_167247.1:g.4280312T>C, NT_167249.2:g.4424921T>C, NT_167249.1:g.4424219T>C

Select item 148921175819.

rs1489211758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32967642 (GRCh38)
6:32935419 (GRCh37)
Canonical SPDI:: NC_000006.12:32967641:T:C
Gene:: BRD2 (Varview), LOC124901302 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.32967642T>C, NC_000006.11:g.32935419T>C, NG_042801.1:g.3983T>C, NT_113891.3:g.4379851T>C, NT_113891.2:g.4379957T>C, NT_167248.2:g.4161967T>C, NT_167248.1:g.4167563T>C, NT_167246.2:g.4387026T>C, NT_167246.1:g.4392646T>C, NT_167247.2:g.4266699T>C, NT_167247.1:g.4272284T>C, NT_167249.2:g.4366889T>C, NT_167249.1:g.4366187T>C

Select item 148911030320.

rs1489110303 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32970114 (GRCh38)
6:32937891 (GRCh37)
Canonical SPDI:: NC_000006.12:32970113:T:C
Gene:: BRD2 (Varview), LOC124901302 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32970114T>C, NC_000006.11:g.32937891T>C, NG_042801.1:g.6455T>C, NT_113891.3:g.4382323T>C, NT_113891.2:g.4382429T>C, NT_167248.2:g.4164439T>C, NT_167248.1:g.4170035T>C, NT_167246.2:g.4389498T>C, NT_167246.1:g.4395118T>C, NT_167247.2:g.4269171T>C, NT_167247.1:g.4274756T>C, NT_167249.2:g.4369361T>C, NT_167249.1:g.4368659T>C

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity