SNP Links for Gene (Select 29117) - SNP

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Select item 14915749941.

rs1491574994 has merged into rs749145071 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 16:50356751 (GRCh38)
16:50390662 (GRCh37)
Canonical SPDI:: NC_000016.10:50356739:ACACACACACACACACA:ACACACACACA,NC_000016.10:50356739:ACACACACACACACACA:ACACACACACACA,NC_000016.10:50356739:ACACACACACACACACA:ACACACACACACACA,NC_000016.10:50356739:ACACACACACACACACA:ACACACACACACACACACA,NC_000016.10:50356739:ACACACACACACACACA:ACACACACACACACACACACA,NC_000016.10:50356739:ACACACACACACACACA:ACACACACACACACACACACACA
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000038/10 (TOPMED)
HGVS:: NC_000016.10:g.50356741CA[5], NC_000016.10:g.50356741CA[6], NC_000016.10:g.50356741CA[7], NC_000016.10:g.50356741CA[9], NC_000016.10:g.50356741CA[10], NC_000016.10:g.50356741CA[11], NC_000016.9:g.50390652CA[5], NC_000016.9:g.50390652CA[6], NC_000016.9:g.50390652CA[7], NC_000016.9:g.50390652CA[9], NC_000016.9:g.50390652CA[10], NC_000016.9:g.50390652CA[11], NG_023418.1:g.17180GT[5], NG_023418.1:g.17180GT[6], NG_023418.1:g.17180GT[7], NG_023418.1:g.17180GT[9], NG_023418.1:g.17180GT[10], NG_023418.1:g.17180GT[11]

Select item 14915692582.

rs1491569258 has merged into rs375525112 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 16:50363641 (GRCh38)
16:50397552 (GRCh37)
Canonical SPDI:: NC_000016.10:50363639:TTT:T,NC_000016.10:50363639:TTT:TTTTT
Gene:: BRD7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000016.10:g.50363641_50363642del, NC_000016.10:g.50363641_50363642dup, NC_000016.9:g.50397552_50397553del, NC_000016.9:g.50397552_50397553dup, NG_023418.1:g.10294_10295del, NG_023418.1:g.10294_10295dup

Select item 14915630833.

rs1491563083 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:50329882 (GRCh38)
16:50363794 (GRCh37)
Canonical SPDI:: NC_000016.10:50329882:T:TT
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.50329883dup, NC_000016.9:g.50363794dup, NG_023418.1:g.44052dup

Select item 14915598754.

rs1491559875 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:50330337 (GRCh38)
16:50364248 (GRCh37)
Canonical SPDI:: NC_000016.10:50330336:CT:
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.002892/40 (ALFA)
-=0.001726/222 (GnomAD)
-=0.004142/69 (TOMMO)
HGVS:: NC_000016.10:g.50330337_50330338del, NC_000016.9:g.50364248_50364249del, NG_023418.1:g.43597_43598del

Select item 14915369105.

rs1491536910 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 16:50363633 (GRCh38)
16:50397544 (GRCh37)
Canonical SPDI:: NC_000016.10:50363632:TT:
Gene:: BRD7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000055/6 (GnomAD)
-=0.001405/9 (1000Genomes)
HGVS:: NC_000016.10:g.50363633_50363634del, NC_000016.9:g.50397544_50397545del, NG_023418.1:g.10301_10302del

Select item 14914803916.

rs1491480391 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:50321566 (GRCh38)
16:50355477 (GRCh37)
Canonical SPDI:: NC_000016.10:50321565:CA:
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000016.10:g.50321566_50321567del, NC_000016.9:g.50355477_50355478del, NG_023418.1:g.52368_52369del

Select item 14914474097.

rs1491447409 [Homo sapiens]

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

Select item 14914301758.

rs1491430175 has merged into rs60824563 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:50321576 (GRCh38)
16:50355487 (GRCh37)
Canonical SPDI:: NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:50321566:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.50321576_50321595del, NC_000016.10:g.50321578_50321595del, NC_000016.10:g.50321581_50321595del, NC_000016.10:g.50321582_50321595del, NC_000016.10:g.50321583_50321595del, NC_000016.10:g.50321584_50321595del, NC_000016.10:g.50321585_50321595del, NC_000016.10:g.50321586_50321595del, NC_000016.10:g.50321587_50321595del, NC_000016.10:g.50321588_50321595del, NC_000016.10:g.50321589_50321595del, NC_000016.10:g.50321590_50321595del, NC_000016.10:g.50321592_50321595del, NC_000016.10:g.50321593_50321595del, NC_000016.10:g.50321594_50321595del, NC_000016.10:g.50321595del, NC_000016.10:g.50321595dup, NC_000016.10:g.50321594_50321595dup, NC_000016.10:g.50321593_50321595dup, NC_000016.10:g.50321592_50321595dup, NC_000016.10:g.50321591_50321595dup, NC_000016.10:g.50321590_50321595dup, NC_000016.10:g.50321589_50321595dup, NC_000016.10:g.50321588_50321595dup, NC_000016.10:g.50321587_50321595dup, NC_000016.10:g.50321585_50321595dup, NC_000016.10:g.50321583_50321595dup, NC_000016.10:g.50321569_50321595dup, NC_000016.10:g.50321595_50321596insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.50355487_50355506del, NC_000016.9:g.50355489_50355506del, NC_000016.9:g.50355492_50355506del, NC_000016.9:g.50355493_50355506del, NC_000016.9:g.50355494_50355506del, NC_000016.9:g.50355495_50355506del, NC_000016.9:g.50355496_50355506del, NC_000016.9:g.50355497_50355506del, NC_000016.9:g.50355498_50355506del, NC_000016.9:g.50355499_50355506del, NC_000016.9:g.50355500_50355506del, NC_000016.9:g.50355501_50355506del, NC_000016.9:g.50355503_50355506del, NC_000016.9:g.50355504_50355506del, NC_000016.9:g.50355505_50355506del, NC_000016.9:g.50355506del, NC_000016.9:g.50355506dup, NC_000016.9:g.50355505_50355506dup, NC_000016.9:g.50355504_50355506dup, NC_000016.9:g.50355503_50355506dup, NC_000016.9:g.50355502_50355506dup, NC_000016.9:g.50355501_50355506dup, NC_000016.9:g.50355500_50355506dup, NC_000016.9:g.50355499_50355506dup, NC_000016.9:g.50355498_50355506dup, NC_000016.9:g.50355496_50355506dup, NC_000016.9:g.50355494_50355506dup, NC_000016.9:g.50355480_50355506dup, NC_000016.9:g.50355506_50355507insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_023418.1:g.52349_52368del, NG_023418.1:g.52351_52368del, NG_023418.1:g.52354_52368del, NG_023418.1:g.52355_52368del, NG_023418.1:g.52356_52368del, NG_023418.1:g.52357_52368del, NG_023418.1:g.52358_52368del, NG_023418.1:g.52359_52368del, NG_023418.1:g.52360_52368del, NG_023418.1:g.52361_52368del, NG_023418.1:g.52362_52368del, NG_023418.1:g.52363_52368del, NG_023418.1:g.52365_52368del, NG_023418.1:g.52366_52368del, NG_023418.1:g.52367_52368del, NG_023418.1:g.52368del, NG_023418.1:g.52368dup, NG_023418.1:g.52367_52368dup, NG_023418.1:g.52366_52368dup, NG_023418.1:g.52365_52368dup, NG_023418.1:g.52364_52368dup, NG_023418.1:g.52363_52368dup, NG_023418.1:g.52362_52368dup, NG_023418.1:g.52361_52368dup, NG_023418.1:g.52360_52368dup, NG_023418.1:g.52358_52368dup, NG_023418.1:g.52356_52368dup, NG_023418.1:g.52342_52368dup, NG_023418.1:g.52368_52369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914086989.

rs1491408698 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:50364660 (GRCh38)
16:50398571 (GRCh37)
Canonical SPDI:: NC_000016.10:50364659:AG:
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.50364660_50364661del, NC_000016.9:g.50398571_50398572del, NG_023418.1:g.9274_9275del

Select item 149140758310.

rs1491407583 has merged into rs60550754 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 16:50330909 (GRCh38)
16:50364820 (GRCh37)
Canonical SPDI:: NC_000016.10:50330906:ATAT:AT,NC_000016.10:50330906:ATAT:ATATAT
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.097156/1305 (ALFA)
-=0.173948/645 (TWINSUK)
-=0.178775/689 (ALSPAC)
-=0.195312/875 (Estonian)
-=0.201403/201 (GoNL)
-=0.201667/121 (NorthernSweden)
-=0.25/10 (GENOME_DK)
-=0.268519/58 (Vietnamese)
-=0.270399/71572 (TOPMED)
AT=0.319289/1599 (1000Genomes)
-=0.340066/623 (Korea1K)
-=0.411176/6891 (TOMMO)
HGVS:: NC_000016.10:g.50330907AT[1], NC_000016.10:g.50330907AT[3], NC_000016.9:g.50364818AT[1], NC_000016.9:g.50364818AT[3], NG_023418.1:g.43025AT[1], NG_023418.1:g.43025AT[3]

Select item 149134753511.

rs1491347535 has merged into rs11360309 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:50330348 (GRCh38)
16:50364259 (GRCh37)
Canonical SPDI:: NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:50330337:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTTTT=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.50330348_50330358del, NC_000016.10:g.50330352_50330358del, NC_000016.10:g.50330355_50330358del, NC_000016.10:g.50330356_50330358del, NC_000016.10:g.50330357_50330358del, NC_000016.10:g.50330358del, NC_000016.10:g.50330358dup, NC_000016.10:g.50330357_50330358dup, NC_000016.10:g.50330356_50330358dup, NC_000016.10:g.50330355_50330358dup, NC_000016.10:g.50330354_50330358dup, NC_000016.10:g.50330343_50330358dup, NC_000016.9:g.50364259_50364269del, NC_000016.9:g.50364263_50364269del, NC_000016.9:g.50364266_50364269del, NC_000016.9:g.50364267_50364269del, NC_000016.9:g.50364268_50364269del, NC_000016.9:g.50364269del, NC_000016.9:g.50364269dup, NC_000016.9:g.50364268_50364269dup, NC_000016.9:g.50364267_50364269dup, NC_000016.9:g.50364266_50364269dup, NC_000016.9:g.50364265_50364269dup, NC_000016.9:g.50364254_50364269dup, NG_023418.1:g.43587_43597del, NG_023418.1:g.43591_43597del, NG_023418.1:g.43594_43597del, NG_023418.1:g.43595_43597del, NG_023418.1:g.43596_43597del, NG_023418.1:g.43597del, NG_023418.1:g.43597dup, NG_023418.1:g.43596_43597dup, NG_023418.1:g.43595_43597dup, NG_023418.1:g.43594_43597dup, NG_023418.1:g.43593_43597dup, NG_023418.1:g.43582_43597dup

Select item 149133588112.

rs1491335881 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:50343069 (GRCh38)
16:50376981 (GRCh37)
Canonical SPDI:: NC_000016.10:50343069:A:AA
Gene:: BRD7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.50343070dup, NC_000016.9:g.50376981dup, NG_023418.1:g.30865dup

Select item 149130363013.

rs1491303630 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:50364660 (GRCh38)
16:50398572 (GRCh37)
Canonical SPDI:: NC_000016.10:50364660:GGGGGG:GGGGGGG
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.50364666dup, NC_000016.9:g.50398577dup, NG_023418.1:g.9274dup

Select item 149129314914.

rs1491293149 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:50333721 (GRCh38)
16:50367633 (GRCh37)
Canonical SPDI:: NC_000016.10:50333721::A
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.50333721_50333722insA, NC_000016.9:g.50367632_50367633insA, NG_023418.1:g.40213_40214insT

Select item 149121403415.

rs1491214034 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:50333721 (GRCh38)
16:50367632 (GRCh37)
Canonical SPDI:: NC_000016.10:50333720:GT:
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.50333721_50333722del, NC_000016.9:g.50367632_50367633del, NG_023418.1:g.40213_40214del

Select item 149117612116.

rs1491176121 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:50363640 (GRCh38)
16:50397552 (GRCh37)
Canonical SPDI:: NC_000016.10:50363640::G
Gene:: BRD7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
G=0.00295/137 (GnomAD)
HGVS:: NC_000016.10:g.50363640_50363641insG, NC_000016.9:g.50397551_50397552insG, NG_023418.1:g.10294_10295insC

Select item 149115378117.

rs1491153781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGT,ATGTGT,ATGTGTGT [Show Flanks]
Chromosome:: 16:50363641 (GRCh38)
16:50397553 (GRCh37)
Canonical SPDI:: NC_000016.10:50363641:TGT:TGTATGT,NC_000016.10:50363641:TGT:TGTATGTGT,NC_000016.10:50363641:TGT:TGTATGTGTGT
Gene:: BRD7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTATGTGTGT=0./0 (ALFA)
TGTA=0.005/3 (NorthernSweden)
HGVS:: NC_000016.10:g.50363644_50363645insATGT, NC_000016.10:g.50363644_50363645insATGTGT, NC_000016.10:g.50363644_50363645insATGTGTGT, NC_000016.9:g.50397555_50397556insATGT, NC_000016.9:g.50397555_50397556insATGTGT, NC_000016.9:g.50397555_50397556insATGTGTGT, NG_023418.1:g.10293_10294insTACA, NG_023418.1:g.10291_10293AC[2]ATACA[1], NG_023418.1:g.10291_10293AC[3]ATACA[1]

Select item 149113142318.

rs1491131423 has merged into rs1446884393 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:50363639 (GRCh38)
16:50397550 (GRCh37)
Canonical SPDI:: NC_000016.10:50363633:TGTGTGT:TGTGT,NC_000016.10:50363633:TGTGTGT:TGTGTGTGT,NC_000016.10:50363633:TGTGTGT:TGTGTGTGTGT,NC_000016.10:50363633:TGTGTGT:TGTGTGTGTGTGT,NC_000016.10:50363633:TGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:50363633:TGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.50363635GT[2], NC_000016.10:g.50363635GT[4], NC_000016.10:g.50363635GT[5], NC_000016.10:g.50363635GT[6], NC_000016.10:g.50363635GT[7], NC_000016.10:g.50363635GT[8], NC_000016.9:g.50397546GT[2], NC_000016.9:g.50397546GT[4], NC_000016.9:g.50397546GT[5], NC_000016.9:g.50397546GT[6], NC_000016.9:g.50397546GT[7], NC_000016.9:g.50397546GT[8], NG_023418.1:g.10296CA[2], NG_023418.1:g.10296CA[4], NG_023418.1:g.10296CA[5], NG_023418.1:g.10296CA[6], NG_023418.1:g.10296CA[7], NG_023418.1:g.10296CA[8]

Select item 149111754619.

rs1491117546 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 16:50346533 (GRCh38)
16:50380444 (GRCh37)
Canonical SPDI:: NC_000016.10:50346531:AGA:A
Gene:: BRD7 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.50346533_50346534del, NC_000016.9:g.50380444_50380445del, NG_023418.1:g.27402_27403del

Select item 149110506120.

rs1491105061 has merged into rs1555472868 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCGCGCG>-,CG,CGCG,CGCGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG [Show Flanks]
Chromosome:: 16:50363662 (GRCh38)
16:50397573 (GRCh37)
Canonical SPDI:: NC_000016.10:50363660:GCGCGCGCGCGCG:G,NC_000016.10:50363660:GCGCGCGCGCGCG:GCG,NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCG,NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCG,NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCG,NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCG,NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCG,NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000016.10:50363660:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG
Gene:: BRD7 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
-=0.01249/203 (TOMMO)
HGVS:: NC_000016.10:g.50363662_50363673del, NC_000016.10:g.50363662CG[1], NC_000016.10:g.50363662CG[2], NC_000016.10:g.50363662CG[3], NC_000016.10:g.50363662CG[4], NC_000016.10:g.50363662CG[5], NC_000016.10:g.50363662CG[7], NC_000016.10:g.50363662CG[8], NC_000016.10:g.50363662CG[9], NC_000016.9:g.50397573_50397584del, NC_000016.9:g.50397573CG[1], NC_000016.9:g.50397573CG[2], NC_000016.9:g.50397573CG[3], NC_000016.9:g.50397573CG[4], NC_000016.9:g.50397573CG[5], NC_000016.9:g.50397573CG[7], NC_000016.9:g.50397573CG[8], NC_000016.9:g.50397573CG[9], NG_023418.1:g.10263_10274del, NG_023418.1:g.10263GC[1], NG_023418.1:g.10263GC[2], NG_023418.1:g.10263GC[3], NG_023418.1:g.10263GC[4], NG_023418.1:g.10263GC[5], NG_023418.1:g.10263GC[7], NG_023418.1:g.10263GC[8], NG_023418.1:g.10263GC[9]

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