SNP Links for Gene (Select 101929897) - SNP

Links from Gene

Items: 1 to 20 of 4357

<< First< Prev

Page of 218

Next >Last >>

Select item 14915745161.

rs1491574516 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:42256408 (GRCh38)
8:42113927 (GRCh37)
Canonical SPDI:: NC_000008.11:42256408::C
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.42256408_42256409insC, NC_000008.10:g.42113926_42113927insC

Select item 14915692712.

rs1491569271 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 8:42269467 (GRCh38)
8:42126985 (GRCh37)
Canonical SPDI:: NC_000008.11:42269465:GAG:G
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0005/3 (1000Genomes)
HGVS:: NC_000008.11:g.42269467_42269468del, NC_000008.10:g.42126985_42126986del, NG_041793.1:g.3166_3167del

Select item 14914015743.

rs1491401574 has merged into rs527900913 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:42267013 (GRCh38)
8:42124531 (GRCh37)
Canonical SPDI:: NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42267004:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTT=0.00503/3 (NorthernSweden)
-=0.23762/1190 (1000Genomes)
HGVS:: NC_000008.11:g.42267013_42267018del, NC_000008.11:g.42267017_42267018del, NC_000008.11:g.42267018del, NC_000008.11:g.42267018dup, NC_000008.11:g.42267017_42267018dup, NC_000008.11:g.42267016_42267018dup, NC_000008.11:g.42267014_42267018dup, NC_000008.11:g.42267009_42267018dup, NC_000008.11:g.42267008_42267018dup, NC_000008.11:g.42267007_42267018dup, NC_000008.11:g.42267006_42267018dup, NC_000008.11:g.42267005_42267018dup, NC_000008.11:g.42267018_42267019insTTTTTTTTTTTTTTT, NC_000008.10:g.42124531_42124536del, NC_000008.10:g.42124535_42124536del, NC_000008.10:g.42124536del, NC_000008.10:g.42124536dup, NC_000008.10:g.42124535_42124536dup, NC_000008.10:g.42124534_42124536dup, NC_000008.10:g.42124532_42124536dup, NC_000008.10:g.42124527_42124536dup, NC_000008.10:g.42124526_42124536dup, NC_000008.10:g.42124525_42124536dup, NC_000008.10:g.42124524_42124536dup, NC_000008.10:g.42124523_42124536dup, NC_000008.10:g.42124536_42124537insTTTTTTTTTTTTTTT, NG_041793.1:g.712_717del, NG_041793.1:g.716_717del, NG_041793.1:g.717del, NG_041793.1:g.717dup, NG_041793.1:g.716_717dup, NG_041793.1:g.715_717dup, NG_041793.1:g.713_717dup, NG_041793.1:g.708_717dup, NG_041793.1:g.707_717dup, NG_041793.1:g.706_717dup, NG_041793.1:g.705_717dup, NG_041793.1:g.704_717dup, NG_041793.1:g.717_718insTTTTTTTTTTTTTTT

Select item 14913876904.

rs1491387690 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:42260668 (GRCh38)
8:42118186 (GRCh37)
Canonical SPDI:: NC_000008.11:42260667:CA:
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00185/22 (ALFA)
HGVS:: NC_000008.11:g.42260668_42260669del, NC_000008.10:g.42118186_42118187del

Select item 14913861545.

rs1491386154 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:42267005 (GRCh38)
8:42124524 (GRCh37)
Canonical SPDI:: NC_000008.11:42267005::G
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/3 (GnomAD)
HGVS:: NC_000008.11:g.42267005_42267006insG, NC_000008.10:g.42124523_42124524insG, NG_041793.1:g.704_705insG

Select item 14911561456.

rs1491156145 has merged into rs111851763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 8:42256421 (GRCh38)
8:42113939 (GRCh37)
Canonical SPDI:: NC_000008.11:42256407:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:42256407:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:42256407:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:42256407:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:42256407:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:42256407:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000008.11:g.42256421_42256423del, NC_000008.11:g.42256422_42256423del, NC_000008.11:g.42256423del, NC_000008.11:g.42256423dup, NC_000008.11:g.42256422_42256423dup, NC_000008.11:g.42256421_42256423dup, NC_000008.10:g.42113939_42113941del, NC_000008.10:g.42113940_42113941del, NC_000008.10:g.42113941del, NC_000008.10:g.42113941dup, NC_000008.10:g.42113940_42113941dup, NC_000008.10:g.42113939_42113941dup

Select item 14911128537.

rs1491112853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:42269466 (GRCh38)
8:42126985 (GRCh37)
Canonical SPDI:: NC_000008.11:42269466:A:AA
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000008.11:g.42269467dup, NC_000008.10:g.42126985dup, NG_041793.1:g.3166dup

Select item 14909806858.

rs1490980685 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCCCCGC [Show Flanks]
Chromosome:: 8:42271510 (GRCh38)
8:42129029 (GRCh37)
Canonical SPDI:: NC_000008.11:42271510:GCCCCGCCGCCCCGC:GCCCCGCCGCCCCGCCGCCCCGC
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCCGCCGCCCCGCCGCCCCGC=0./0 (ALFA)
GCCCCGCC=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.42271518_42271525dup, NC_000008.10:g.42129036_42129043dup, NG_041793.1:g.5217_5224dup

Select item 14908357049.

rs1490835704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:42265480 (GRCh38)
8:42122998 (GRCh37)
Canonical SPDI:: NC_000008.11:42265479:G:C
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.42265480G>C, NC_000008.10:g.42122998G>C

Select item 149081124710.

rs1490811247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:42266604 (GRCh38)
8:42124122 (GRCh37)
Canonical SPDI:: NC_000008.11:42266603:G:T
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.42266604G>T, NC_000008.10:g.42124122G>T, NG_041793.1:g.303G>T

Select item 149075307311.

rs1490753073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:42262600 (GRCh38)
8:42120118 (GRCh37)
Canonical SPDI:: NC_000008.11:42262599:A:T
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
T=0.00011/3 (TOMMO)
T=0.00045/2 (Estonian)
HGVS:: NC_000008.11:g.42262600A>T, NC_000008.10:g.42120118A>T

Select item 149053616212.

rs1490536162 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 8:42272230 (GRCh38)
8:42129749 (GRCh37)
Canonical SPDI:: NC_000008.11:42272230:G:GCG
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.000021/3 (GnomAD)
GC=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.42272231_42272232insCG, NC_000008.10:g.42129749_42129750insCG, NG_041793.1:g.5930_5931insCG

Select item 149026300813.

rs1490263008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:42261800 (GRCh38)
8:42119318 (GRCh37)
Canonical SPDI:: NC_000008.11:42261799:G:A
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.42261800G>A, NC_000008.10:g.42119318G>A

Select item 148974518914.

rs1489745189 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:42271157 (GRCh38)
8:42128675 (GRCh37)
Canonical SPDI:: NC_000008.11:42271156:T:G
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.42271157T>G, NC_000008.10:g.42128675T>G, NG_041793.1:g.4856T>G

Select item 148961121115.

rs1489611211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:42272870 (GRCh38)
8:42130388 (GRCh37)
Canonical SPDI:: NC_000008.11:42272869:G:A
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.42272870G>A, NC_000008.10:g.42130388G>A, NG_041793.1:g.6569G>A

Select item 148927581316.

rs1489275813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:42267376 (GRCh38)
8:42124894 (GRCh37)
Canonical SPDI:: NC_000008.11:42267375:C:T
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.42267376C>T, NC_000008.10:g.42124894C>T, NG_041793.1:g.1075C>T

Select item 148922624517.

rs1489226245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:42268248 (GRCh38)
8:42125766 (GRCh37)
Canonical SPDI:: NC_000008.11:42268247:C:T
Gene:: IKBKB-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.42268248C>T, NC_000008.10:g.42125766C>T, NG_041793.1:g.1947C>T

Select item 148909022218.

rs1489090222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:42270348 (GRCh38)
8:42127866 (GRCh37)
Canonical SPDI:: NC_000008.11:42270347:G:A
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000008.11:g.42270348G>A, NC_000008.10:g.42127866G>A, NG_041793.1:g.4047G>A

Select item 148905896919.

rs1489058969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:42271208 (GRCh38)
8:42128726 (GRCh37)
Canonical SPDI:: NC_000008.11:42271207:G:C
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.42271208G>C, NC_000008.10:g.42128726G>C, NG_041793.1:g.4907G>C

Select item 148901948920.

rs1489019489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:42270689 (GRCh38)
8:42128207 (GRCh37)
Canonical SPDI:: NC_000008.11:42270688:A:G
Gene:: IKBKB (Varview), IKBKB-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.42270689A>G, NC_000008.10:g.42128207A>G, NG_041793.1:g.4388A>G, NR_125823.1:n.273T>C

<< First< Prev

Page of 218

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 4357

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity