Links from Gene
Items: 1 to 20 of 1000
1.
rs1491575305 has merged into rs71135888 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAGATATATATATATATATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAAATATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAGATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 17:29276040
(GRCh38)
17:27603058
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATAGATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAAATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAGATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:29276029:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.0008/4
(1000Genomes)
- HGVS:
NC_000017.11:g.29276030AT[5], NC_000017.11:g.29276030AT[6], NC_000017.11:g.29276030AT[7], NC_000017.11:g.29276030AT[8], NC_000017.11:g.29276030AT[9], NC_000017.11:g.29276030AT[11], NC_000017.11:g.29276030_29276049AT[11]AGATATATATATATATATATATATATAT[1], NC_000017.11:g.29276030AT[12], NC_000017.11:g.29276030AT[13], NC_000017.11:g.29276030AT[14], NC_000017.11:g.29276030AT[15], NC_000017.11:g.29276030AT[16], NC_000017.11:g.29276030AT[17], NC_000017.11:g.29276030_29276049AT[17]AAATATATATATATATATATATATATAT[1], NC_000017.11:g.29276030AT[18], NC_000017.11:g.29276030AT[19], NC_000017.11:g.29276030AT[20], NC_000017.11:g.29276030AT[21], NC_000017.11:g.29276030_29276049AT[21]AGATATATATATATATATATAT[1], NC_000017.11:g.29276030AT[22], NC_000017.11:g.29276030AT[23], NC_000017.11:g.29276030AT[24], NC_000017.11:g.29276030AT[25], NC_000017.11:g.29276030AT[26], NC_000017.11:g.29276030AT[27], NC_000017.11:g.29276030AT[28], NC_000017.11:g.29276030AT[29], NC_000017.11:g.29276030AT[30], NC_000017.11:g.29276030AT[31], NC_000017.11:g.29276030AT[32], NC_000017.11:g.29276030AT[33], NC_000017.11:g.29276030AT[34], NC_000017.11:g.29276030AT[36], NC_000017.10:g.27603048AT[5], NC_000017.10:g.27603048AT[6], NC_000017.10:g.27603048AT[7], NC_000017.10:g.27603048AT[8], NC_000017.10:g.27603048AT[9], NC_000017.10:g.27603048AT[11], NC_000017.10:g.27603048_27603067AT[11]AGATATATATATATATATATATATATAT[1], NC_000017.10:g.27603048AT[12], NC_000017.10:g.27603048AT[13], NC_000017.10:g.27603048AT[14], NC_000017.10:g.27603048AT[15], NC_000017.10:g.27603048AT[16], NC_000017.10:g.27603048AT[17], NC_000017.10:g.27603048_27603067AT[17]AAATATATATATATATATATATATATAT[1], NC_000017.10:g.27603048AT[18], NC_000017.10:g.27603048AT[19], NC_000017.10:g.27603048AT[20], NC_000017.10:g.27603048AT[21], NC_000017.10:g.27603048_27603067AT[21]AGATATATATATATATATATAT[1], NC_000017.10:g.27603048AT[22], NC_000017.10:g.27603048AT[23], NC_000017.10:g.27603048AT[24], NC_000017.10:g.27603048AT[25], NC_000017.10:g.27603048AT[26], NC_000017.10:g.27603048AT[27], NC_000017.10:g.27603048AT[28], NC_000017.10:g.27603048AT[29], NC_000017.10:g.27603048AT[30], NC_000017.10:g.27603048AT[31], NC_000017.10:g.27603048AT[32], NC_000017.10:g.27603048AT[33], NC_000017.10:g.27603048AT[34], NC_000017.10:g.27603048AT[36]
2.
rs1491516940 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 17:29294983
(GRCh38)
17:27622001
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29294981:TGT:T
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0011/13
(
ALFA)
-=0.00312/311
(GnomAD)
- HGVS:
3.
rs1491491797 has merged into rs35610952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 17:29282875
(GRCh38)
17:27609893
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29282866:AAAAAAAAAA:AAAAAAAA,NC_000017.11:29282866:AAAAAAAAAA:AAAAAAAAA,NC_000017.11:29282866:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.017058/196
(
ALFA)
-=0.09/54
(NorthernSweden)
-=0.094897/424
(Estonian)
-=0.095745/369
(ALSPAC)
-=0.097896/363
(TWINSUK)
-=0.128652/34053
(TOPMED)
-=0.146293/146
(GoNL)
-=0.175/7
(GENOME_DK)
-=0.180711/905
(1000Genomes)
- HGVS:
4.
rs1491488684 has merged into rs58675184 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:29281698
(GRCh38)
17:27608716
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29281689:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.3934/1970
(1000Genomes)
- HGVS:
NC_000017.11:g.29281698_29281709del, NC_000017.11:g.29281703_29281709del, NC_000017.11:g.29281704_29281709del, NC_000017.11:g.29281705_29281709del, NC_000017.11:g.29281706_29281709del, NC_000017.11:g.29281707_29281709del, NC_000017.11:g.29281708_29281709del, NC_000017.11:g.29281709del, NC_000017.11:g.29281709dup, NC_000017.11:g.29281708_29281709dup, NC_000017.11:g.29281707_29281709dup, NC_000017.11:g.29281706_29281709dup, NC_000017.10:g.27608716_27608727del, NC_000017.10:g.27608721_27608727del, NC_000017.10:g.27608722_27608727del, NC_000017.10:g.27608723_27608727del, NC_000017.10:g.27608724_27608727del, NC_000017.10:g.27608725_27608727del, NC_000017.10:g.27608726_27608727del, NC_000017.10:g.27608727del, NC_000017.10:g.27608727dup, NC_000017.10:g.27608726_27608727dup, NC_000017.10:g.27608725_27608727dup, NC_000017.10:g.27608724_27608727dup
6.
rs1491413865 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:29284707
(GRCh38)
17:27611726
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29284707::G
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000026/1
(GnomAD)
- HGVS:
8.
rs1491384409 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA,CACACA
[Show Flanks]
- Chromosome:
- 17:29273045
(GRCh38)
17:27600063
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29273033:ACACACACACACA:ACACACACACA,NC_000017.11:29273033:ACACACACACACA:ACACACACACACACA,NC_000017.11:29273033:ACACACACACACA:ACACACACACACACACA
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
AC=0.00028/4
(TOMMO)
- HGVS:
9.
rs1491334000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 17:29289934
(GRCh38)
17:27616952
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29289932:TCT:T
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
10.
rs1491329493 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A,AA
[Show Flanks]
- Chromosome:
- 17:29291029
(GRCh38)
17:27618048
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29291029:AA:AAA,NC_000017.11:29291029:AA:AAAA
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491217940 has merged into rs66700326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:29284708
(GRCh38)
17:27611726
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:A,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29284706:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000144/38
(TOPMED)
A=0.35/14
(GENOME_DK)
- HGVS:
NC_000017.11:g.29284708_29284727del, NC_000017.11:g.29284712_29284727del, NC_000017.11:g.29284713_29284727del, NC_000017.11:g.29284714_29284727del, NC_000017.11:g.29284715_29284727del, NC_000017.11:g.29284716_29284727del, NC_000017.11:g.29284717_29284727del, NC_000017.11:g.29284718_29284727del, NC_000017.11:g.29284719_29284727del, NC_000017.11:g.29284720_29284727del, NC_000017.11:g.29284721_29284727del, NC_000017.11:g.29284722_29284727del, NC_000017.11:g.29284723_29284727del, NC_000017.11:g.29284724_29284727del, NC_000017.11:g.29284725_29284727del, NC_000017.11:g.29284726_29284727del, NC_000017.11:g.29284727del, NC_000017.11:g.29284727dup, NC_000017.11:g.29284726_29284727dup, NC_000017.11:g.29284725_29284727dup, NC_000017.11:g.29284724_29284727dup, NC_000017.11:g.29284723_29284727dup, NC_000017.11:g.29284722_29284727dup, NC_000017.11:g.29284721_29284727dup, NC_000017.11:g.29284720_29284727dup, NC_000017.11:g.29284719_29284727dup, NC_000017.11:g.29284718_29284727dup, NC_000017.11:g.29284717_29284727dup, NC_000017.11:g.29284716_29284727dup, NC_000017.11:g.29284715_29284727dup, NC_000017.11:g.29284714_29284727dup, NC_000017.11:g.29284713_29284727dup, NC_000017.11:g.29284712_29284727dup, NC_000017.11:g.29284711_29284727dup, NC_000017.11:g.29284710_29284727dup, NC_000017.11:g.29284709_29284727dup, NC_000017.11:g.29284708_29284727dup, NC_000017.11:g.29284707_29284727dup, NC_000017.11:g.29284727_29284728insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27611726_27611745del, NC_000017.10:g.27611730_27611745del, NC_000017.10:g.27611731_27611745del, NC_000017.10:g.27611732_27611745del, NC_000017.10:g.27611733_27611745del, NC_000017.10:g.27611734_27611745del, NC_000017.10:g.27611735_27611745del, NC_000017.10:g.27611736_27611745del, NC_000017.10:g.27611737_27611745del, NC_000017.10:g.27611738_27611745del, NC_000017.10:g.27611739_27611745del, NC_000017.10:g.27611740_27611745del, NC_000017.10:g.27611741_27611745del, NC_000017.10:g.27611742_27611745del, NC_000017.10:g.27611743_27611745del, NC_000017.10:g.27611744_27611745del, NC_000017.10:g.27611745del, NC_000017.10:g.27611745dup, NC_000017.10:g.27611744_27611745dup, NC_000017.10:g.27611743_27611745dup, NC_000017.10:g.27611742_27611745dup, NC_000017.10:g.27611741_27611745dup, NC_000017.10:g.27611740_27611745dup, NC_000017.10:g.27611739_27611745dup, NC_000017.10:g.27611738_27611745dup, NC_000017.10:g.27611737_27611745dup, NC_000017.10:g.27611736_27611745dup, NC_000017.10:g.27611735_27611745dup, NC_000017.10:g.27611734_27611745dup, NC_000017.10:g.27611733_27611745dup, NC_000017.10:g.27611732_27611745dup, NC_000017.10:g.27611731_27611745dup, NC_000017.10:g.27611730_27611745dup, NC_000017.10:g.27611729_27611745dup, NC_000017.10:g.27611728_27611745dup, NC_000017.10:g.27611727_27611745dup, NC_000017.10:g.27611726_27611745dup, NC_000017.10:g.27611725_27611745dup, NC_000017.10:g.27611745_27611746insAAAAAAAAAAAAAAAAAAAAAAAAAA
13.
rs1491191028 has merged into rs60000691 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:29291046
(GRCh38)
17:27618064
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:29291035:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.05/2
(GENOME_DK)
- HGVS:
NC_000017.11:g.29291046_29291053del, NC_000017.11:g.29291047_29291053del, NC_000017.11:g.29291048_29291053del, NC_000017.11:g.29291049_29291053del, NC_000017.11:g.29291050_29291053del, NC_000017.11:g.29291051_29291053del, NC_000017.11:g.29291052_29291053del, NC_000017.11:g.29291053del, NC_000017.11:g.29291053dup, NC_000017.11:g.29291052_29291053dup, NC_000017.11:g.29291051_29291053dup, NC_000017.11:g.29291050_29291053dup, NC_000017.11:g.29291049_29291053dup, NC_000017.11:g.29291048_29291053dup, NC_000017.11:g.29291047_29291053dup, NC_000017.11:g.29291044_29291053dup, NC_000017.11:g.29291040_29291053dup, NC_000017.11:g.29291038_29291053dup, NC_000017.11:g.29291037_29291053dup, NC_000017.11:g.29291036_29291053dup, NC_000017.11:g.29291053_29291054insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.27618064_27618071del, NC_000017.10:g.27618065_27618071del, NC_000017.10:g.27618066_27618071del, NC_000017.10:g.27618067_27618071del, NC_000017.10:g.27618068_27618071del, NC_000017.10:g.27618069_27618071del, NC_000017.10:g.27618070_27618071del, NC_000017.10:g.27618071del, NC_000017.10:g.27618071dup, NC_000017.10:g.27618070_27618071dup, NC_000017.10:g.27618069_27618071dup, NC_000017.10:g.27618068_27618071dup, NC_000017.10:g.27618067_27618071dup, NC_000017.10:g.27618066_27618071dup, NC_000017.10:g.27618065_27618071dup, NC_000017.10:g.27618062_27618071dup, NC_000017.10:g.27618058_27618071dup, NC_000017.10:g.27618056_27618071dup, NC_000017.10:g.27618055_27618071dup, NC_000017.10:g.27618054_27618071dup, NC_000017.10:g.27618071_27618072insAAAAAAAAAAAAAAAAAAA
14.
rs1491157509 has merged into rs1555549848 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:29294982
(GRCh38)
17:27622001
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29294982:G:GG
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.00004/4
(GnomAD)
G=0.02906/112
(ALSPAC)
G=0.03155/117
(TWINSUK)
- HGVS:
16.
rs1490992836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:29284385
(GRCh38)
17:27611403
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29284384:A:G
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490856661 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:29272279
(GRCh38)
17:27599297
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29272278:C:
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490808133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 17:29291054
(GRCh38)
17:27618072
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29291051:AAGAA:AA
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000084/1
(
ALFA)
-=0.000167/23
(GnomAD)
- HGVS:
19.
rs1490773713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:29257432
(GRCh38)
17:27584450
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29257431:A:C,NC_000017.11:29257431:A:G
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000017.11:g.29257432A>C, NC_000017.11:g.29257432A>G, NC_000017.10:g.27584450A>C, NC_000017.10:g.27584450A>G, NM_020772.3:c.*7107T>G, NM_020772.3:c.*7107T>C, NM_020772.2:c.*7107T>G, NM_020772.2:c.*7107T>C, XM_017024896.3:c.*7107T>G, XM_017024896.3:c.*7107T>C, XM_017024896.1:c.*7107T>G, XM_017024896.1:c.*7107T>C
20.
rs1490754339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 17:29277440
(GRCh38)
17:27604458
(GRCh37)
- Canonical SPDI:
- NC_000017.11:29277439:T:C,NC_000017.11:29277439:T:G
- Gene:
- NUFIP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: