SNP Links for Nucleotide (Select 723428434) - SNP

Links from Nucleotide

Items: 1 to 20 of 15328

<< First< Prev

Page of 767

Next >Last >>

Select item 14915692711.

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 14915316782.

rs1491531678 has merged into rs903163193 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:42295126 (GRCh38)
8:42152644 (GRCh37)
Canonical SPDI:: NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42295116:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IKBKB (Varview), LOC105379395 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.42295126_42295136del, NC_000008.11:g.42295128_42295136del, NC_000008.11:g.42295130_42295136del, NC_000008.11:g.42295133_42295136del, NC_000008.11:g.42295135_42295136del, NC_000008.11:g.42295136del, NC_000008.11:g.42295136dup, NC_000008.11:g.42295135_42295136dup, NC_000008.11:g.42295134_42295136dup, NC_000008.11:g.42295133_42295136dup, NC_000008.11:g.42295132_42295136dup, NC_000008.11:g.42295131_42295136dup, NC_000008.11:g.42295130_42295136dup, NC_000008.11:g.42295129_42295136dup, NC_000008.11:g.42295128_42295136dup, NC_000008.11:g.42295117_42295136T[49]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.42295136_42295137insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.42152644_42152654del, NC_000008.10:g.42152646_42152654del, NC_000008.10:g.42152648_42152654del, NC_000008.10:g.42152651_42152654del, NC_000008.10:g.42152653_42152654del, NC_000008.10:g.42152654del, NC_000008.10:g.42152654dup, NC_000008.10:g.42152653_42152654dup, NC_000008.10:g.42152652_42152654dup, NC_000008.10:g.42152651_42152654dup, NC_000008.10:g.42152650_42152654dup, NC_000008.10:g.42152649_42152654dup, NC_000008.10:g.42152648_42152654dup, NC_000008.10:g.42152647_42152654dup, NC_000008.10:g.42152646_42152654dup, NC_000008.10:g.42152635_42152654T[49]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.42152654_42152655insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041793.1:g.28825_28835del, NG_041793.1:g.28827_28835del, NG_041793.1:g.28829_28835del, NG_041793.1:g.28832_28835del, NG_041793.1:g.28834_28835del, NG_041793.1:g.28835del, NG_041793.1:g.28835dup, NG_041793.1:g.28834_28835dup, NG_041793.1:g.28833_28835dup, NG_041793.1:g.28832_28835dup, NG_041793.1:g.28831_28835dup, NG_041793.1:g.28830_28835dup, NG_041793.1:g.28829_28835dup, NG_041793.1:g.28828_28835dup, NG_041793.1:g.28827_28835dup, NG_041793.1:g.28816_28835T[49]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_041793.1:g.28835_28836insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914862263.

rs1491486226 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:42274787 (GRCh38)
8:42132306 (GRCh37)
Canonical SPDI:: NC_000008.11:42274787::G
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00064/8 (GnomAD)
HGVS:: NC_000008.11:g.42274787_42274788insG, NC_000008.10:g.42132305_42132306insG, NG_041793.1:g.8486_8487insG

Select item 14914548144.

rs1491454814 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:42303147 (GRCh38)
8:42160665 (GRCh37)
Canonical SPDI:: NC_000008.11:42303146:TG:
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000008.11:g.42303147_42303148del, NC_000008.10:g.42160665_42160666del, NG_041793.1:g.36846_36847del

Select item 14914476615.

rs1491447661 has merged into rs397767670 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:42327339 (GRCh38)
8:42184857 (GRCh37)
Canonical SPDI:: NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:42327330:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.42327339_42327351del, NC_000008.11:g.42327340_42327351del, NC_000008.11:g.42327341_42327351del, NC_000008.11:g.42327342_42327351del, NC_000008.11:g.42327346_42327351del, NC_000008.11:g.42327347_42327351del, NC_000008.11:g.42327349_42327351del, NC_000008.11:g.42327350_42327351del, NC_000008.11:g.42327351del, NC_000008.11:g.42327351dup, NC_000008.11:g.42327350_42327351dup, NC_000008.11:g.42327349_42327351dup, NC_000008.11:g.42327348_42327351dup, NC_000008.11:g.42327347_42327351dup, NC_000008.11:g.42327346_42327351dup, NC_000008.11:g.42327345_42327351dup, NC_000008.11:g.42327344_42327351dup, NC_000008.10:g.42184857_42184869del, NC_000008.10:g.42184858_42184869del, NC_000008.10:g.42184859_42184869del, NC_000008.10:g.42184860_42184869del, NC_000008.10:g.42184864_42184869del, NC_000008.10:g.42184865_42184869del, NC_000008.10:g.42184867_42184869del, NC_000008.10:g.42184868_42184869del, NC_000008.10:g.42184869del, NC_000008.10:g.42184869dup, NC_000008.10:g.42184868_42184869dup, NC_000008.10:g.42184867_42184869dup, NC_000008.10:g.42184866_42184869dup, NC_000008.10:g.42184865_42184869dup, NC_000008.10:g.42184864_42184869dup, NC_000008.10:g.42184863_42184869dup, NC_000008.10:g.42184862_42184869dup, NG_041793.1:g.61038_61050del, NG_041793.1:g.61039_61050del, NG_041793.1:g.61040_61050del, NG_041793.1:g.61041_61050del, NG_041793.1:g.61045_61050del, NG_041793.1:g.61046_61050del, NG_041793.1:g.61048_61050del, NG_041793.1:g.61049_61050del, NG_041793.1:g.61050del, NG_041793.1:g.61050dup, NG_041793.1:g.61049_61050dup, NG_041793.1:g.61048_61050dup, NG_041793.1:g.61047_61050dup, NG_041793.1:g.61046_61050dup, NG_041793.1:g.61045_61050dup, NG_041793.1:g.61044_61050dup, NG_041793.1:g.61043_61050dup

Select item 14914015746.

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 14913905987.

rs1491390598 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:42317208 (GRCh38)
8:42174727 (GRCh37)
Canonical SPDI:: NC_000008.11:42317208:T:TT
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00013/4 (GnomAD)
HGVS:: NC_000008.11:g.42317209dup, NC_000008.10:g.42174727dup, NG_041793.1:g.50908dup, NM_001190722.1:c.*167dup

Select item 14913861548.

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 14913238099.

rs1491323809 has merged into rs1224930652 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 8:42274793 (GRCh38)
8:42132311 (GRCh37)
Canonical SPDI:: NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000008.11:42274786:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.03478/8 (NorthernSweden)
HGVS:: NC_000008.11:g.42274793_42274801del, NC_000008.11:g.42274794_42274801del, NC_000008.11:g.42274795_42274801del, NC_000008.11:g.42274796_42274801del, NC_000008.11:g.42274797_42274801del, NC_000008.11:g.42274798_42274801del, NC_000008.11:g.42274799_42274801del, NC_000008.11:g.42274800_42274801del, NC_000008.11:g.42274801del, NC_000008.11:g.42274801dup, NC_000008.11:g.42274800_42274801dup, NC_000008.11:g.42274799_42274801dup, NC_000008.11:g.42274798_42274801dup, NC_000008.11:g.42274801_42274802insCCCCCCCCCCCCCCCCCCC, NC_000008.11:g.42274801_42274802insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000008.10:g.42132311_42132319del, NC_000008.10:g.42132312_42132319del, NC_000008.10:g.42132313_42132319del, NC_000008.10:g.42132314_42132319del, NC_000008.10:g.42132315_42132319del, NC_000008.10:g.42132316_42132319del, NC_000008.10:g.42132317_42132319del, NC_000008.10:g.42132318_42132319del, NC_000008.10:g.42132319del, NC_000008.10:g.42132319dup, NC_000008.10:g.42132318_42132319dup, NC_000008.10:g.42132317_42132319dup, NC_000008.10:g.42132316_42132319dup, NC_000008.10:g.42132319_42132320insCCCCCCCCCCCCCCCCCCC, NC_000008.10:g.42132319_42132320insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_041793.1:g.8492_8500del, NG_041793.1:g.8493_8500del, NG_041793.1:g.8494_8500del, NG_041793.1:g.8495_8500del, NG_041793.1:g.8496_8500del, NG_041793.1:g.8497_8500del, NG_041793.1:g.8498_8500del, NG_041793.1:g.8499_8500del, NG_041793.1:g.8500del, NG_041793.1:g.8500dup, NG_041793.1:g.8499_8500dup, NG_041793.1:g.8498_8500dup, NG_041793.1:g.8497_8500dup, NG_041793.1:g.8500_8501insCCCCCCCCCCCCCCCCCCC, NG_041793.1:g.8500_8501insCCCCCCCCCCCCCCCCCCCCCCCCCCC

Select item 149122080010.

rs1491220800 has merged into rs968601948 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 8:42303154 (GRCh38)
8:42160672 (GRCh37)
Canonical SPDI:: NC_000008.11:42303147:GAGAGAGAGA:GAGAGA,NC_000008.11:42303147:GAGAGAGAGA:GAGAGAGA,NC_000008.11:42303147:GAGAGAGAGA:GAGAGAGAGAGA
Gene:: IKBKB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGA=0./0 (ALFA)
-=0.00011/2 (TOMMO)
HGVS:: NC_000008.11:g.42303148GA[3], NC_000008.11:g.42303148GA[4], NC_000008.11:g.42303148GA[6], NC_000008.10:g.42160666GA[3], NC_000008.10:g.42160666GA[4], NC_000008.10:g.42160666GA[6], NG_041793.1:g.36847GA[3], NG_041793.1:g.36847GA[4], NG_041793.1:g.36847GA[6]

Select item 149117465911.

rs1491174659 [Homo sapiens]

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

Select item 149111285312.

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 149109334213.

rs1491093342 [Homo sapiens]

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

Select item 149108837514.

rs1491088375 has merged into rs1243226540 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 8:42279016 (GRCh38)
8:42136534 (GRCh37)
Canonical SPDI:: NC_000008.11:42279006:AGAGAGAGAGAGA:AGAGAGAGA,NC_000008.11:42279006:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000008.11:42279006:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
-=0.000125/33 (TOPMED)
HGVS:: NC_000008.11:g.42279008GA[4], NC_000008.11:g.42279008GA[5], NC_000008.11:g.42279008GA[7], NC_000008.10:g.42136526GA[4], NC_000008.10:g.42136526GA[5], NC_000008.10:g.42136526GA[7], NG_041793.1:g.12707GA[4], NG_041793.1:g.12707GA[5], NG_041793.1:g.12707GA[7]

Select item 149098875315.

rs1490988753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:42286481 (GRCh38)
8:42143999 (GRCh37)
Canonical SPDI:: NC_000008.11:42286480:T:C
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.42286481T>C, NC_000008.10:g.42143999T>C, NG_041793.1:g.20180T>C

Select item 149098068516.

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 149095918317.

rs1490959183 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:42332331 (GRCh38)
8:42189850 (GRCh37)
Canonical SPDI:: NC_000008.11:42332331:AA:AAA
Gene:: IKBKB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.42332333dup, NC_000008.10:g.42189851dup, NG_041793.1:g.66032dup, NM_001556.3:c.*1354dup, NM_001556.2:c.*1354dup, NM_001190720.3:c.*1354dup, NM_001190720.2:c.*1354dup, NR_033818.2:n.3867dup, NR_033818.1:n.3867dup, NR_040009.2:n.3758dup, NR_040009.1:n.3758dup, NR_033819.2:n.3749dup, NR_033819.1:n.3749dup, NM_001242778.2:c.*1354dup, NM_001242778.1:c.*1354dup, NR_033820.1:n.3716dup, XM_047421757.1:c.*1354dup, XM_047421760.1:c.*1413dup, NM_001190721.1:c.*1354dup, XM_047421762.1:c.*1354dup

Select item 149081124718.

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 149072037219.

rs1490720372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:42279725 (GRCh38)
8:42137243 (GRCh37)
Canonical SPDI:: NC_000008.11:42279724:T:C
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.42279725T>C, NC_000008.10:g.42137243T>C, NG_041793.1:g.13424T>C

Select item 149065004420.

rs1490650044 [Homo sapiens]

Variant type:: DEL
Alleles:: GTTGAAAATA>- [Show Flanks]
Chromosome:: 8:42318283 (GRCh38)
8:42175801 (GRCh37)
Canonical SPDI:: NC_000008.11:42318282:GTTGAAAATA:
Gene:: IKBKB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.42318283_42318292del, NC_000008.10:g.42175801_42175810del, NG_041793.1:g.51982_51991del

<< First< Prev

Page of 767

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 Nucleotide

Items: 1 to 20 of 15328

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity