SNP Links for Nucleotide (Select 1028908930) - SNP

Links from Nucleotide

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Select item 14915596551.

rs1491559655 has merged into rs745539448 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 4:102579061 (GRCh38)
4:103500218 (GRCh37)
Canonical SPDI:: NC_000004.12:102579060:GGGGG:GGGG,NC_000004.12:102579060:GGGGG:GGGGGG
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000028/7 (GnomAD_exomes)
-=0.000059/7 (ExAC)
HGVS:: NC_000004.12:g.102579065del, NC_000004.12:g.102579065dup, NC_000004.11:g.103500222del, NC_000004.11:g.103500222dup, NG_050628.1:g.82737del, NG_050628.1:g.82737dup

Select item 14915493602.

rs1491549360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATGTG [Show Flanks]
Chromosome:: 4:102551364 (GRCh38)
4:103472522 (GRCh37)
Canonical SPDI:: NC_000004.12:102551364:TGTG:TGTGTATGTG
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.102551365_102551368TG[2]TATGTG[1], NC_000004.11:g.103472522_103472525TG[2]TATGTG[1], NG_050628.1:g.55037_55040TG[2]TATGTG[1]

Select item 14914860443.

rs1491486044 [Homo sapiens]

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

Select item 14914415214.

rs1491441521 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:102617097 (GRCh38)
4:103538254 (GRCh37)
Canonical SPDI:: NC_000004.12:102617096:GC:
Gene:: NFKB1 (Varview), LOC105377347 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00016/3 (GnomAD)
-=0.00018/5 (TOMMO)
HGVS:: NC_000004.12:g.102617097_102617098del, NC_000004.11:g.103538254_103538255del, NG_050628.1:g.120769_120770del, NM_003998.4:c.*503_*504del, NM_003998.3:c.*503_*504del, NM_001165412.2:c.*503_*504del, NM_001165412.1:c.*503_*504del, NM_001319226.2:c.*503_*504del, NM_001319226.1:c.*503_*504del, NM_001382626.1:c.*503_*504del, NM_001382627.1:c.*503_*504del, NM_001382628.1:c.*503_*504del, NM_001382625.1:c.*503_*504del, XM_024454069.2:c.*503_*504del, XM_024454069.1:c.*503_*504del, XM_047415742.1:c.*503_*504del, XM_024454068.1:c.*503_*504del, XM_047415743.1:c.*503_*504del, XM_047415744.1:c.*503_*504del

Select item 14914322245.

rs1491432224 has merged into rs199492659 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 4:102537734 (GRCh38)
4:103458891 (GRCh37)
Canonical SPDI:: NC_000004.12:102537731:CACA:CA,NC_000004.12:102537731:CACA:CACACA
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.414201/7671 (ALFA)
CA=0.35/14 (GENOME_DK)
CA=0.363897/6099 (TOMMO)
CA=0.37976/379 (GoNL)
-=0.407407/88 (Vietnamese)
CA=0.409704/1579 (ALSPAC)
CA=0.417083/2089 (1000Genomes)
CA=0.417097/58291 (GnomAD)
CA=0.417745/1549 (TWINSUK)
CA=0.419521/111043 (TOPMED)
CA=0.426116/1909 (Estonian)
CA=0.428333/257 (NorthernSweden)
HGVS:: NC_000004.12:g.102537732CA[1], NC_000004.12:g.102537732CA[3], NC_000004.11:g.103458889CA[1], NC_000004.11:g.103458889CA[3], NG_050628.1:g.41404CA[1], NG_050628.1:g.41404CA[3]

Select item 14914232816.

rs1491423281 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATTAT [Show Flanks]
Chromosome:: 4:102515108 (GRCh38)
4:103436266 (GRCh37)
Canonical SPDI:: NC_000004.12:102515108:T:TAT,NC_000004.12:102515108:T:TATTAT
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0./0 (ALFA)
TATTA=0.00014/10 (GnomAD)
HGVS:: NC_000004.12:g.102515109_102515110insAT, NC_000004.12:g.102515109_102515110insATTAT, NC_000004.11:g.103436266_103436267insAT, NC_000004.11:g.103436266_103436267insATTAT, NG_050628.1:g.18781_18782insAT, NG_050628.1:g.18781_18782insATTAT

Select item 14914110117.

rs1491411011 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 4:102551378 (GRCh38)
4:103472536 (GRCh37)
Canonical SPDI:: NC_000004.12:102551378::CG
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
CG=0.00002/2 (GnomAD)
HGVS:: NC_000004.12:g.102551378_102551379insCG, NC_000004.11:g.103472535_103472536insCG, NG_050628.1:g.55050_55051insCG

Select item 14914064888.

rs1491406488 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,TA [Show Flanks]
Chromosome:: 4:102617097 (GRCh38)
4:103538255 (GRCh37)
Canonical SPDI:: NC_000004.12:102617097::A,NC_000004.12:102617097::AA,NC_000004.12:102617097::AAA,NC_000004.12:102617097::AAAA,NC_000004.12:102617097::TA
Gene:: NFKB1 (Varview), LOC105377347 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.01001/95 (GnomAD)
HGVS:: NC_000004.12:g.102617097_102617098insA, NC_000004.12:g.102617097_102617098insAA, NC_000004.12:g.102617097_102617098insAAA, NC_000004.12:g.102617097_102617098insAAAA, NC_000004.12:g.102617097_102617098insTA, NC_000004.11:g.103538254_103538255insA, NC_000004.11:g.103538254_103538255insAA, NC_000004.11:g.103538254_103538255insAAA, NC_000004.11:g.103538254_103538255insAAAA, NC_000004.11:g.103538254_103538255insTA, NG_050628.1:g.120769_120770insA, NG_050628.1:g.120769_120770insAA, NG_050628.1:g.120769_120770insAAA, NG_050628.1:g.120769_120770insAAAA, NG_050628.1:g.120769_120770insTA, NM_003998.4:c.*503_*504insA, NM_003998.4:c.*503_*504insAA, NM_003998.4:c.*503_*504insAAA, NM_003998.4:c.*503_*504insAAAA, NM_003998.4:c.*503_*504insTA, NM_003998.3:c.*503_*504insA, NM_003998.3:c.*503_*504insAA, NM_003998.3:c.*503_*504insAAA, NM_003998.3:c.*503_*504insAAAA, NM_003998.3:c.*503_*504insTA, NM_001165412.2:c.*503_*504insA, NM_001165412.2:c.*503_*504insAA, NM_001165412.2:c.*503_*504insAAA, NM_001165412.2:c.*503_*504insAAAA, NM_001165412.2:c.*503_*504insTA, NM_001165412.1:c.*503_*504insA, NM_001165412.1:c.*503_*504insAA, NM_001165412.1:c.*503_*504insAAA, NM_001165412.1:c.*503_*504insAAAA, NM_001165412.1:c.*503_*504insTA, NM_001319226.2:c.*503_*504insA, NM_001319226.2:c.*503_*504insAA, NM_001319226.2:c.*503_*504insAAA, NM_001319226.2:c.*503_*504insAAAA, NM_001319226.2:c.*503_*504insTA, NM_001319226.1:c.*503_*504insA, NM_001319226.1:c.*503_*504insAA, NM_001319226.1:c.*503_*504insAAA, NM_001319226.1:c.*503_*504insAAAA, NM_001319226.1:c.*503_*504insTA, NM_001382626.1:c.*503_*504insA, NM_001382626.1:c.*503_*504insAA, NM_001382626.1:c.*503_*504insAAA, NM_001382626.1:c.*503_*504insAAAA, NM_001382626.1:c.*503_*504insTA, NM_001382627.1:c.*503_*504insA, NM_001382627.1:c.*503_*504insAA, NM_001382627.1:c.*503_*504insAAA, NM_001382627.1:c.*503_*504insAAAA, NM_001382627.1:c.*503_*504insTA, NM_001382628.1:c.*503_*504insA, NM_001382628.1:c.*503_*504insAA, NM_001382628.1:c.*503_*504insAAA, NM_001382628.1:c.*503_*504insAAAA, NM_001382628.1:c.*503_*504insTA, NM_001382625.1:c.*503_*504insA, NM_001382625.1:c.*503_*504insAA, NM_001382625.1:c.*503_*504insAAA, NM_001382625.1:c.*503_*504insAAAA, NM_001382625.1:c.*503_*504insTA, XM_024454069.2:c.*503_*504insA, XM_024454069.2:c.*503_*504insAA, XM_024454069.2:c.*503_*504insAAA, XM_024454069.2:c.*503_*504insAAAA, XM_024454069.2:c.*503_*504insTA, XM_024454069.1:c.*503_*504insA, XM_024454069.1:c.*503_*504insAA, XM_024454069.1:c.*503_*504insAAA, XM_024454069.1:c.*503_*504insAAAA, XM_024454069.1:c.*503_*504insTA, XM_047415742.1:c.*503_*504insA, XM_047415742.1:c.*503_*504insAA, XM_047415742.1:c.*503_*504insAAA, XM_047415742.1:c.*503_*504insAAAA, XM_047415742.1:c.*503_*504insTA, XM_024454068.1:c.*503_*504insA, XM_024454068.1:c.*503_*504insAA, XM_024454068.1:c.*503_*504insAAA, XM_024454068.1:c.*503_*504insAAAA, XM_024454068.1:c.*503_*504insTA, XM_047415743.1:c.*503_*504insA, XM_047415743.1:c.*503_*504insAA, XM_047415743.1:c.*503_*504insAAA, XM_047415743.1:c.*503_*504insAAAA, XM_047415743.1:c.*503_*504insTA, XM_047415744.1:c.*503_*504insA, XM_047415744.1:c.*503_*504insAA, XM_047415744.1:c.*503_*504insAAA, XM_047415744.1:c.*503_*504insAAAA, XM_047415744.1:c.*503_*504insTA

Select item 14913748379.

rs1491374837 has merged into rs199492659 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 4:102537734 (GRCh38)
4:103458891 (GRCh37)
Canonical SPDI:: NC_000004.12:102537731:CACA:CA,NC_000004.12:102537731:CACA:CACACA
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.414201/7671 (ALFA)
CA=0.35/14 (GENOME_DK)
CA=0.363897/6099 (TOMMO)
CA=0.37976/379 (GoNL)
-=0.407407/88 (Vietnamese)
CA=0.409704/1579 (ALSPAC)
CA=0.417083/2089 (1000Genomes)
CA=0.417097/58291 (GnomAD)
CA=0.417745/1549 (TWINSUK)
CA=0.419521/111043 (TOPMED)
CA=0.426116/1909 (Estonian)
CA=0.428333/257 (NorthernSweden)
HGVS:: NC_000004.12:g.102537732CA[1], NC_000004.12:g.102537732CA[3], NC_000004.11:g.103458889CA[1], NC_000004.11:g.103458889CA[3], NG_050628.1:g.41404CA[1], NG_050628.1:g.41404CA[3]

Select item 149136607810.

rs1491366078 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:102535903 (GRCh38)
4:103457061 (GRCh37)
Canonical SPDI:: NC_000004.12:102535903::G
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.102535903_102535904insG, NC_000004.11:g.103457060_103457061insG, NG_050628.1:g.39575_39576insG

Select item 149134081511.

rs1491340815 has merged into rs1288717126 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 4:102579645 (GRCh38)
4:103500802 (GRCh37)
Canonical SPDI:: NC_000004.12:102579636:AAAAAAAAAAA:AAAAAAAA,NC_000004.12:102579636:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:102579636:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:102579636:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:102579636:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:102579636:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:102579636:AAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.03082/130 (Estonian)
HGVS:: NC_000004.12:g.102579645_102579647del, NC_000004.12:g.102579646_102579647del, NC_000004.12:g.102579647del, NC_000004.12:g.102579647dup, NC_000004.12:g.102579646_102579647dup, NC_000004.12:g.102579645_102579647dup, NC_000004.12:g.102579643_102579647dup, NC_000004.11:g.103500802_103500804del, NC_000004.11:g.103500803_103500804del, NC_000004.11:g.103500804del, NC_000004.11:g.103500804dup, NC_000004.11:g.103500803_103500804dup, NC_000004.11:g.103500802_103500804dup, NC_000004.11:g.103500800_103500804dup, NG_050628.1:g.83317_83319del, NG_050628.1:g.83318_83319del, NG_050628.1:g.83319del, NG_050628.1:g.83319dup, NG_050628.1:g.83318_83319dup, NG_050628.1:g.83317_83319dup, NG_050628.1:g.83315_83319dup

Select item 149131383912.

rs1491313839 has merged into rs34646774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:102609621 (GRCh38)
4:103530778 (GRCh37)
Canonical SPDI:: NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:102609611:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NFKB1 (Varview), LOC105377347 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.3522/1764 (1000Genomes)
HGVS:: NC_000004.12:g.102609621_102609634del, NC_000004.12:g.102609623_102609634del, NC_000004.12:g.102609624_102609634del, NC_000004.12:g.102609625_102609634del, NC_000004.12:g.102609626_102609634del, NC_000004.12:g.102609627_102609634del, NC_000004.12:g.102609628_102609634del, NC_000004.12:g.102609629_102609634del, NC_000004.12:g.102609630_102609634del, NC_000004.12:g.102609631_102609634del, NC_000004.12:g.102609632_102609634del, NC_000004.12:g.102609633_102609634del, NC_000004.12:g.102609634del, NC_000004.12:g.102609634dup, NC_000004.12:g.102609633_102609634dup, NC_000004.12:g.102609632_102609634dup, NC_000004.12:g.102609631_102609634dup, NC_000004.12:g.102609630_102609634dup, NC_000004.12:g.102609629_102609634dup, NC_000004.12:g.102609628_102609634dup, NC_000004.12:g.102609627_102609634dup, NC_000004.12:g.102609626_102609634dup, NC_000004.12:g.102609625_102609634dup, NC_000004.12:g.102609624_102609634dup, NC_000004.12:g.102609621_102609634dup, NC_000004.12:g.102609616_102609634dup, NC_000004.12:g.102609634_102609635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.102609634_102609635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.102609634_102609635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.102609634_102609635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.103530778_103530791del, NC_000004.11:g.103530780_103530791del, NC_000004.11:g.103530781_103530791del, NC_000004.11:g.103530782_103530791del, NC_000004.11:g.103530783_103530791del, NC_000004.11:g.103530784_103530791del, NC_000004.11:g.103530785_103530791del, NC_000004.11:g.103530786_103530791del, NC_000004.11:g.103530787_103530791del, NC_000004.11:g.103530788_103530791del, NC_000004.11:g.103530789_103530791del, NC_000004.11:g.103530790_103530791del, NC_000004.11:g.103530791del, NC_000004.11:g.103530791dup, NC_000004.11:g.103530790_103530791dup, NC_000004.11:g.103530789_103530791dup, NC_000004.11:g.103530788_103530791dup, NC_000004.11:g.103530787_103530791dup, NC_000004.11:g.103530786_103530791dup, NC_000004.11:g.103530785_103530791dup, NC_000004.11:g.103530784_103530791dup, NC_000004.11:g.103530783_103530791dup, NC_000004.11:g.103530782_103530791dup, NC_000004.11:g.103530781_103530791dup, NC_000004.11:g.103530778_103530791dup, NC_000004.11:g.103530773_103530791dup, NC_000004.11:g.103530791_103530792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.103530791_103530792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.103530791_103530792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.103530791_103530792insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050628.1:g.113293_113306del, NG_050628.1:g.113295_113306del, NG_050628.1:g.113296_113306del, NG_050628.1:g.113297_113306del, NG_050628.1:g.113298_113306del, NG_050628.1:g.113299_113306del, NG_050628.1:g.113300_113306del, NG_050628.1:g.113301_113306del, NG_050628.1:g.113302_113306del, NG_050628.1:g.113303_113306del, NG_050628.1:g.113304_113306del, NG_050628.1:g.113305_113306del, NG_050628.1:g.113306del, NG_050628.1:g.113306dup, NG_050628.1:g.113305_113306dup, NG_050628.1:g.113304_113306dup, NG_050628.1:g.113303_113306dup, NG_050628.1:g.113302_113306dup, NG_050628.1:g.113301_113306dup, NG_050628.1:g.113300_113306dup, NG_050628.1:g.113299_113306dup, NG_050628.1:g.113298_113306dup, NG_050628.1:g.113297_113306dup, NG_050628.1:g.113296_113306dup, NG_050628.1:g.113293_113306dup, NG_050628.1:g.113288_113306dup, NG_050628.1:g.113306_113307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050628.1:g.113306_113307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050628.1:g.113306_113307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_050628.1:g.113306_113307insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149122408313.

rs1491224083 [Homo sapiens]

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

Select item 149120388014.

rs1491203880 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:102609611 (GRCh38)
4:103530768 (GRCh37)
Canonical SPDI:: NC_000004.12:102609610:CA:
Gene:: NFKB1 (Varview), LOC105377347 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.102609611_102609612del, NC_000004.11:g.103530768_103530769del, NG_050628.1:g.113283_113284del

Select item 149117021215.

rs1491170212 has merged into rs34257045 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:102515119 (GRCh38)
4:103436276 (GRCh37)
Canonical SPDI:: NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:102515107:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NFKB1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.102515119_102515128del, NC_000004.12:g.102515121_102515128del, NC_000004.12:g.102515122_102515128del, NC_000004.12:g.102515123_102515128del, NC_000004.12:g.102515124_102515128del, NC_000004.12:g.102515126_102515128del, NC_000004.12:g.102515127_102515128del, NC_000004.12:g.102515128del, NC_000004.12:g.102515128dup, NC_000004.12:g.102515127_102515128dup, NC_000004.12:g.102515126_102515128dup, NC_000004.12:g.102515125_102515128dup, NC_000004.12:g.102515124_102515128dup, NC_000004.12:g.102515123_102515128dup, NC_000004.12:g.102515122_102515128dup, NC_000004.12:g.102515121_102515128dup, NC_000004.12:g.102515119_102515128dup, NC_000004.12:g.102515118_102515128dup, NC_000004.12:g.102515117_102515128dup, NC_000004.12:g.102515116_102515128dup, NC_000004.12:g.102515115_102515128dup, NC_000004.12:g.102515114_102515128dup, NC_000004.12:g.102515113_102515128dup, NC_000004.12:g.102515108_102515128dup, NC_000004.11:g.103436276_103436285del, NC_000004.11:g.103436278_103436285del, NC_000004.11:g.103436279_103436285del, NC_000004.11:g.103436280_103436285del, NC_000004.11:g.103436281_103436285del, NC_000004.11:g.103436283_103436285del, NC_000004.11:g.103436284_103436285del, NC_000004.11:g.103436285del, NC_000004.11:g.103436285dup, NC_000004.11:g.103436284_103436285dup, NC_000004.11:g.103436283_103436285dup, NC_000004.11:g.103436282_103436285dup, NC_000004.11:g.103436281_103436285dup, NC_000004.11:g.103436280_103436285dup, NC_000004.11:g.103436279_103436285dup, NC_000004.11:g.103436278_103436285dup, NC_000004.11:g.103436276_103436285dup, NC_000004.11:g.103436275_103436285dup, NC_000004.11:g.103436274_103436285dup, NC_000004.11:g.103436273_103436285dup, NC_000004.11:g.103436272_103436285dup, NC_000004.11:g.103436271_103436285dup, NC_000004.11:g.103436270_103436285dup, NC_000004.11:g.103436265_103436285dup, NG_050628.1:g.18791_18800del, NG_050628.1:g.18793_18800del, NG_050628.1:g.18794_18800del, NG_050628.1:g.18795_18800del, NG_050628.1:g.18796_18800del, NG_050628.1:g.18798_18800del, NG_050628.1:g.18799_18800del, NG_050628.1:g.18800del, NG_050628.1:g.18800dup, NG_050628.1:g.18799_18800dup, NG_050628.1:g.18798_18800dup, NG_050628.1:g.18797_18800dup, NG_050628.1:g.18796_18800dup, NG_050628.1:g.18795_18800dup, NG_050628.1:g.18794_18800dup, NG_050628.1:g.18793_18800dup, NG_050628.1:g.18791_18800dup, NG_050628.1:g.18790_18800dup, NG_050628.1:g.18789_18800dup, NG_050628.1:g.18788_18800dup, NG_050628.1:g.18787_18800dup, NG_050628.1:g.18786_18800dup, NG_050628.1:g.18785_18800dup, NG_050628.1:g.18780_18800dup

Select item 149113899316.

rs1491138993 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:102579060 (GRCh38)
4:103500217 (GRCh37)
Canonical SPDI:: NC_000004.12:102579059:AG:
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000004.12:g.102579060_102579061del, NC_000004.11:g.103500217_103500218del, NG_050628.1:g.82732_82733del

Select item 149108131917.

rs1491081319 has merged into rs1553934286 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 4:102579661 (GRCh38)
4:103500818 (GRCh37)
Canonical SPDI:: NC_000004.12:102579646:ATATATATATATATATAT:ATATATATATATAT,NC_000004.12:102579646:ATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:102579646:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000004.12:102579646:ATATATATATATATATAT:ATATATATATATATATATATAT
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATAT=0.00038/6 (ALFA)
HGVS:: NC_000004.12:g.102579647AT[7], NC_000004.12:g.102579647AT[8], NC_000004.12:g.102579647AT[10], NC_000004.12:g.102579647AT[11], NC_000004.11:g.103500804AT[7], NC_000004.11:g.103500804AT[8], NC_000004.11:g.103500804AT[10], NC_000004.11:g.103500804AT[11], NG_050628.1:g.83319AT[7], NG_050628.1:g.83319AT[8], NG_050628.1:g.83319AT[10], NG_050628.1:g.83319AT[11]

Select item 149099304718.

rs1490993047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:102508309 (GRCh38)
4:103429466 (GRCh37)
Canonical SPDI:: NC_000004.12:102508308:A:G
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.102508309A>G, NC_000004.11:g.103429466A>G, NG_050628.1:g.11981A>G

Select item 149098472419.

rs1490984724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:102514974 (GRCh38)
4:103436131 (GRCh37)
Canonical SPDI:: NC_000004.12:102514973:T:C
Gene:: NFKB1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.102514974T>C, NC_000004.11:g.103436131T>C, NG_050628.1:g.18646T>C

Select item 149096805120.

rs1490968051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:102599390 (GRCh38)
4:103520547 (GRCh37)
Canonical SPDI:: NC_000004.12:102599389:C:G
Gene:: NFKB1 (Varview), LOC105377347 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.102599390C>G, NC_000004.11:g.103520547C>G, NG_050628.1:g.103062C>G, XR_001741780.2:n.591G>C, XR_001741780.1:n.2923G>C

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