SNP Links for Gene (Select 4781) - SNP

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Select item 14915892541.

rs1491589254 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:14289106 (GRCh38)
9:14289105 (GRCh37)
Canonical SPDI:: NC_000009.12:14289104:TAT:T
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000045/6 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000009.12:g.14289106_14289107del, NC_000009.11:g.14289105_14289106del

Select item 14915891072.

rs1491589107 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:14167069 (GRCh38)
9:14167068 (GRCh37)
Canonical SPDI:: NC_000009.12:14167068:TT:
Gene:: NFIB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000009.12:g.14167069_14167070del, NC_000009.11:g.14167068_14167069del

Select item 14915882393.

rs1491588239 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:14217660 (GRCh38)
9:14217660 (GRCh37)
Canonical SPDI:: NC_000009.12:14217660:AAAAAA:AAAAAAGAAAAAAAA,NC_000009.12:14217660:AAAAAA:AAAAAATAAAAAAAAAAAAAAAAAAAAAA
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAGAAAAAAAA=0./0 (ALFA)
AAAAAAGAA=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.14217661_14217666A[6]GAAAAAAAA[1], NC_000009.12:g.14217661_14217666A[6]TAAAAAAAAAAAAAAAAAAAAAA[1], NC_000009.11:g.14217660_14217665A[6]GAAAAAAAA[1], NC_000009.11:g.14217660_14217665A[6]TAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915860124.

rs1491586012 has merged into rs765351246 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,GG [Show Flanks]
Chromosome:: 9:14230973 (GRCh38)
9:14230972 (GRCh37)
Canonical SPDI:: NC_000009.12:14230971:GGGGG:G,NC_000009.12:14230971:GGGGG:GGG
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.073843/1206 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.096714/13481 (GnomAD)
-=0.100223/449 (Estonian)
-=0.122438/454 (TWINSUK)
-=0.125324/483 (ALSPAC)
-=0.146667/88 (NorthernSweden)
-=0.205786/377 (Korea1K)
-=0.255928/4289 (TOMMO)
GG=0.890775/4461 (1000Genomes)
HGVS:: NC_000009.12:g.14230973_14230976del, NC_000009.12:g.14230975_14230976del, NC_000009.11:g.14230972_14230975del, NC_000009.11:g.14230974_14230975del

Select item 14915711875.

rs1491571187 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:14217660 (GRCh38)
9:14217659 (GRCh37)
Canonical SPDI:: NC_000009.12:14217659:CA:
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.14217660_14217661del, NC_000009.11:g.14217659_14217660del

Select item 14915680816.

rs1491568081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 9:14344113 (GRCh38)
9:14344113 (GRCh37)
Canonical SPDI:: NC_000009.12:14344113:G:GG,NC_000009.12:14344113:G:GGG
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
GG=0.000009/1 (GnomAD)
HGVS:: NC_000009.12:g.14344114dup, NC_000009.12:g.14344114_14344115insGG, NC_000009.11:g.14344113dup, NC_000009.11:g.14344113_14344114insGG

Select item 14915593507.

rs1491559350 has merged into rs143037724 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 9:14162249 (GRCh38)
9:14162248 (GRCh37)
Canonical SPDI:: NC_000009.12:14162248:TTTTTTTTT:TTTTTTTT,NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTT,NC_000009.12:14162248:TTTTTTTTT:TTTTTTTTTTT
Gene:: NFIB (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.001453/19 (ALFA)
-=0.069544/311 (1000Genomes)
-=0.1/4 (GENOME_DK)
-=0.105856/470 (Estonian)
-=0.110374/29215 (TOPMED)
-=0.121432/468 (ALSPAC)
-=0.122168/453 (TWINSUK)
-=0.157831/2645 (TOMMO)
-=0.18286/335 (Korea1K)
HGVS:: NC_000009.12:g.14162257del, NC_000009.12:g.14162257dup, NC_000009.12:g.14162256_14162257dup, NC_000009.11:g.14162256del, NC_000009.11:g.14162256dup, NC_000009.11:g.14162255_14162256dup

Select item 14915528338.

rs1491552833 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:14160831 (GRCh38)
9:14160830 (GRCh37)
Canonical SPDI:: NC_000009.12:14160830:CA:
Gene:: NFIB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.14160831_14160832del, NC_000009.11:g.14160830_14160831del

Select item 14915527139.

rs1491552713 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:14237763 (GRCh38)
9:14237762 (GRCh37)
Canonical SPDI:: NC_000009.12:14237762:AG:
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00299/295 (GnomAD)
HGVS:: NC_000009.12:g.14237763_14237764del, NC_000009.11:g.14237762_14237763del

Select item 149155255610.

rs1491552556 has merged into rs33999296 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 9:14277352 (GRCh38)
9:14277351 (GRCh37)
Canonical SPDI:: NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000009.12:14277344:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA
Gene:: NFIB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
ACACACACAC=0.000382/101 (TOPMED)
-=0.213858/1071 (1000Genomes)
HGVS:: NC_000009.12:g.14277346CA[3], NC_000009.12:g.14277346CA[6], NC_000009.12:g.14277346CA[7], NC_000009.12:g.14277346CA[8], NC_000009.12:g.14277346CA[9], NC_000009.12:g.14277346CA[10], NC_000009.12:g.14277346CA[11], NC_000009.12:g.14277346CA[13], NC_000009.12:g.14277346CA[14], NC_000009.12:g.14277346CA[15], NC_000009.12:g.14277346CA[16], NC_000009.12:g.14277346CA[17], NC_000009.12:g.14277346CA[18], NC_000009.11:g.14277345CA[3], NC_000009.11:g.14277345CA[6], NC_000009.11:g.14277345CA[7], NC_000009.11:g.14277345CA[8], NC_000009.11:g.14277345CA[9], NC_000009.11:g.14277345CA[10], NC_000009.11:g.14277345CA[11], NC_000009.11:g.14277345CA[13], NC_000009.11:g.14277345CA[14], NC_000009.11:g.14277345CA[15], NC_000009.11:g.14277345CA[16], NC_000009.11:g.14277345CA[17], NC_000009.11:g.14277345CA[18]

Select item 149154261511.

rs1491542615 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:14381073 (GRCh38)
9:14381072 (GRCh37)
Canonical SPDI:: NC_000009.12:14381072:CA:
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.14381073_14381074del, NC_000009.11:g.14381072_14381073del

Select item 149154132312.

rs1491541323 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:14314707 (GRCh38)
9:14314706 (GRCh37)
Canonical SPDI:: NC_000009.12:14314706:TT:
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00089/4 (ALFA)
-=0.00049/8 (TOMMO)
HGVS:: NC_000009.12:g.14314707_14314708del, NC_000009.11:g.14314706_14314707del

Select item 149154061413.

rs1491540614 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:14102861 (GRCh38)
9:14102860 (GRCh37)
Canonical SPDI:: NC_000009.12:14102860:CT:
Gene:: NFIB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.14102861_14102862del, NC_000009.11:g.14102860_14102861del

Select item 149152989114.

rs1491529891 has merged into rs34481505 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:14318517 (GRCh38)
9:14318516 (GRCh37)
Canonical SPDI:: NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14318505:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.14318517_14318530del, NC_000009.12:g.14318518_14318530del, NC_000009.12:g.14318519_14318530del, NC_000009.12:g.14318520_14318530del, NC_000009.12:g.14318521_14318530del, NC_000009.12:g.14318522_14318530del, NC_000009.12:g.14318523_14318530del, NC_000009.12:g.14318524_14318530del, NC_000009.12:g.14318525_14318530del, NC_000009.12:g.14318526_14318530del, NC_000009.12:g.14318527_14318530del, NC_000009.12:g.14318528_14318530del, NC_000009.12:g.14318529_14318530del, NC_000009.12:g.14318530del, NC_000009.12:g.14318530dup, NC_000009.12:g.14318529_14318530dup, NC_000009.12:g.14318528_14318530dup, NC_000009.12:g.14318527_14318530dup, NC_000009.12:g.14318526_14318530dup, NC_000009.12:g.14318525_14318530dup, NC_000009.12:g.14318524_14318530dup, NC_000009.12:g.14318523_14318530dup, NC_000009.12:g.14318522_14318530dup, NC_000009.12:g.14318521_14318530dup, NC_000009.12:g.14318520_14318530dup, NC_000009.12:g.14318519_14318530dup, NC_000009.12:g.14318518_14318530dup, NC_000009.12:g.14318517_14318530dup, NC_000009.12:g.14318516_14318530dup, NC_000009.12:g.14318515_14318530dup, NC_000009.12:g.14318514_14318530dup, NC_000009.12:g.14318513_14318530dup, NC_000009.12:g.14318512_14318530dup, NC_000009.12:g.14318510_14318530dup, NC_000009.12:g.14318509_14318530dup, NC_000009.12:g.14318508_14318530dup, NC_000009.12:g.14318530_14318531insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.14318516_14318529del, NC_000009.11:g.14318517_14318529del, NC_000009.11:g.14318518_14318529del, NC_000009.11:g.14318519_14318529del, NC_000009.11:g.14318520_14318529del, NC_000009.11:g.14318521_14318529del, NC_000009.11:g.14318522_14318529del, NC_000009.11:g.14318523_14318529del, NC_000009.11:g.14318524_14318529del, NC_000009.11:g.14318525_14318529del, NC_000009.11:g.14318526_14318529del, NC_000009.11:g.14318527_14318529del, NC_000009.11:g.14318528_14318529del, NC_000009.11:g.14318529del, NC_000009.11:g.14318529dup, NC_000009.11:g.14318528_14318529dup, NC_000009.11:g.14318527_14318529dup, NC_000009.11:g.14318526_14318529dup, NC_000009.11:g.14318525_14318529dup, NC_000009.11:g.14318524_14318529dup, NC_000009.11:g.14318523_14318529dup, NC_000009.11:g.14318522_14318529dup, NC_000009.11:g.14318521_14318529dup, NC_000009.11:g.14318520_14318529dup, NC_000009.11:g.14318519_14318529dup, NC_000009.11:g.14318518_14318529dup, NC_000009.11:g.14318517_14318529dup, NC_000009.11:g.14318516_14318529dup, NC_000009.11:g.14318515_14318529dup, NC_000009.11:g.14318514_14318529dup, NC_000009.11:g.14318513_14318529dup, NC_000009.11:g.14318512_14318529dup, NC_000009.11:g.14318511_14318529dup, NC_000009.11:g.14318509_14318529dup, NC_000009.11:g.14318508_14318529dup, NC_000009.11:g.14318507_14318529dup, NC_000009.11:g.14318529_14318530insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149150047615.

rs1491500476 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:14318506 (GRCh38)
9:14318506 (GRCh37)
Canonical SPDI:: NC_000009.12:14318506::A
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0009/4 (ALFA)
HGVS:: NC_000009.12:g.14318506_14318507insA, NC_000009.11:g.14318505_14318506insA

Select item 149146590316.

rs1491465903 has merged into rs58705977 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 9:14176268 (GRCh38)
9:14176267 (GRCh37)
Canonical SPDI:: NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:14176256:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: NFIB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2318/1161 (1000Genomes)
HGVS:: NC_000009.12:g.14176268_14176275del, NC_000009.12:g.14176270_14176275del, NC_000009.12:g.14176271_14176275del, NC_000009.12:g.14176272_14176275del, NC_000009.12:g.14176273_14176275del, NC_000009.12:g.14176274_14176275del, NC_000009.12:g.14176275del, NC_000009.12:g.14176275dup, NC_000009.12:g.14176274_14176275dup, NC_000009.11:g.14176267_14176274del, NC_000009.11:g.14176269_14176274del, NC_000009.11:g.14176270_14176274del, NC_000009.11:g.14176271_14176274del, NC_000009.11:g.14176272_14176274del, NC_000009.11:g.14176273_14176274del, NC_000009.11:g.14176274del, NC_000009.11:g.14176274dup, NC_000009.11:g.14176273_14176274dup

Select item 149146109717.

rs1491461097 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 9:14234804 (GRCh38)
9:14234804 (GRCh37)
Canonical SPDI:: NC_000009.12:14234804:GT:GTGT
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
GT=0.000012/1 (GnomAD)
HGVS:: NC_000009.12:g.14234805_14234806dup, NC_000009.11:g.14234804_14234805dup

Select item 149145935918.

rs1491459359 has merged into rs35781223 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:14376530 (GRCh38)
9:14376529 (GRCh37)
Canonical SPDI:: NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:14376518:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3217/1611 (1000Genomes)
HGVS:: NC_000009.12:g.14376530_14376534del, NC_000009.12:g.14376532_14376534del, NC_000009.12:g.14376533_14376534del, NC_000009.12:g.14376534del, NC_000009.12:g.14376534dup, NC_000009.12:g.14376533_14376534dup, NC_000009.12:g.14376532_14376534dup, NC_000009.12:g.14376531_14376534dup, NC_000009.12:g.14376530_14376534dup, NC_000009.12:g.14376529_14376534dup, NC_000009.12:g.14376525_14376534dup, NC_000009.11:g.14376529_14376533del, NC_000009.11:g.14376531_14376533del, NC_000009.11:g.14376532_14376533del, NC_000009.11:g.14376533del, NC_000009.11:g.14376533dup, NC_000009.11:g.14376532_14376533dup, NC_000009.11:g.14376531_14376533dup, NC_000009.11:g.14376530_14376533dup, NC_000009.11:g.14376529_14376533dup, NC_000009.11:g.14376528_14376533dup, NC_000009.11:g.14376524_14376533dup

Select item 149142888219.

rs1491428882 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:14344107 (GRCh38)
9:14344107 (GRCh37)
Canonical SPDI:: NC_000009.12:14344107::G
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000073/9 (GnomAD)
HGVS:: NC_000009.12:g.14344107_14344108insG, NC_000009.11:g.14344106_14344107insG

Select item 149141628220.

rs1491416282 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:14187005 (GRCh38)
9:14187004 (GRCh37)
Canonical SPDI:: NC_000009.12:14187004:CT:
Gene:: NFIB (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01644/1168 (GnomAD)
HGVS:: NC_000009.12:g.14187005_14187006del, NC_000009.11:g.14187004_14187005del

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