Links from Gene
Items: 1 to 20 of 1000
1.
rs1491512208 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:17917412
(GRCh38)
11:17938960
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17917412:GGGGGG:GGGGGGG
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGGG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491492093 has merged into rs67114053 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:17976467
(GRCh38)
11:17998014
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:17976457:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.17976467_17976481del, NC_000011.10:g.17976473_17976481del, NC_000011.10:g.17976475_17976481del, NC_000011.10:g.17976476_17976481del, NC_000011.10:g.17976477_17976481del, NC_000011.10:g.17976478_17976481del, NC_000011.10:g.17976479_17976481del, NC_000011.10:g.17976480_17976481del, NC_000011.10:g.17976481del, NC_000011.10:g.17976481dup, NC_000011.10:g.17976480_17976481dup, NC_000011.10:g.17976478_17976481dup, NC_000011.10:g.17976467_17976481dup, NC_000011.10:g.17976462_17976481dup, NC_000011.9:g.17998014_17998028del, NC_000011.9:g.17998020_17998028del, NC_000011.9:g.17998022_17998028del, NC_000011.9:g.17998023_17998028del, NC_000011.9:g.17998024_17998028del, NC_000011.9:g.17998025_17998028del, NC_000011.9:g.17998026_17998028del, NC_000011.9:g.17998027_17998028del, NC_000011.9:g.17998028del, NC_000011.9:g.17998028dup, NC_000011.9:g.17998027_17998028dup, NC_000011.9:g.17998025_17998028dup, NC_000011.9:g.17998014_17998028dup, NC_000011.9:g.17998009_17998028dup
3.
rs1491488046 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 11:17963395
(GRCh38)
11:17984942
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17963394:AT:
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001012/12
(
ALFA)
-=0.000689/90
(GnomAD)
-=0.039344/72
(Korea1K)
- HGVS:
4.
rs1491424351 has merged into rs59785475 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:17871475
(GRCh38)
11:17893022
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17871460:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.4577/2292
(1000Genomes)
- HGVS:
NC_000011.10:g.17871475_17871481del, NC_000011.10:g.17871477_17871481del, NC_000011.10:g.17871478_17871481del, NC_000011.10:g.17871479_17871481del, NC_000011.10:g.17871480_17871481del, NC_000011.10:g.17871481del, NC_000011.10:g.17871481dup, NC_000011.10:g.17871480_17871481dup, NC_000011.10:g.17871479_17871481dup, NC_000011.10:g.17871478_17871481dup, NC_000011.10:g.17871477_17871481dup, NC_000011.10:g.17871474_17871481dup, NC_000011.9:g.17893022_17893028del, NC_000011.9:g.17893024_17893028del, NC_000011.9:g.17893025_17893028del, NC_000011.9:g.17893026_17893028del, NC_000011.9:g.17893027_17893028del, NC_000011.9:g.17893028del, NC_000011.9:g.17893028dup, NC_000011.9:g.17893027_17893028dup, NC_000011.9:g.17893026_17893028dup, NC_000011.9:g.17893025_17893028dup, NC_000011.9:g.17893024_17893028dup, NC_000011.9:g.17893021_17893028dup
5.
rs1491424196 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGGG
[Show Flanks]
- Chromosome:
- 11:17830645
(GRCh38)
11:17852192
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17830643:GGG:G,NC_000011.10:17830643:GGG:GGGGG
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
-=0.00132/21
(TOMMO)
- HGVS:
8.
rs1491358172 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 11:17830601
(GRCh38)
11:17852148
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17830600:GG:
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00004/1
(GnomAD)
- HGVS:
9.
rs1491344545 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 11:17871460
(GRCh38)
11:17893007
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17871459:CA:
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00388/46
(
ALFA)
-=0.00081/23
(TOMMO)
- HGVS:
10.
rs1491290386 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 11:17976457
(GRCh38)
11:17998004
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17976456:AT:
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00244/29
(
ALFA)
-=0.00032/5
(TOMMO)
-=0.00054/29
(GnomAD)
- HGVS:
11.
rs1491278211 has merged into rs71962769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAGAGAG>-,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 11:17830613
(GRCh38)
11:17852160
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000011.10:17830601:GAGAGAGAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAG=0./0
(
ALFA)
-=0.0363/140
(ALSPAC)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000011.10:g.17830603AG[5], NC_000011.10:g.17830603AG[7], NC_000011.10:g.17830603AG[8], NC_000011.10:g.17830603AG[9], NC_000011.10:g.17830603AG[10], NC_000011.10:g.17830603AG[11], NC_000011.10:g.17830603AG[13], NC_000011.10:g.17830603AG[14], NC_000011.10:g.17830603AG[15], NC_000011.10:g.17830603AG[16], NC_000011.9:g.17852150AG[5], NC_000011.9:g.17852150AG[7], NC_000011.9:g.17852150AG[8], NC_000011.9:g.17852150AG[9], NC_000011.9:g.17852150AG[10], NC_000011.9:g.17852150AG[11], NC_000011.9:g.17852150AG[13], NC_000011.9:g.17852150AG[14], NC_000011.9:g.17852150AG[15], NC_000011.9:g.17852150AG[16]
12.
rs1491273757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGATTAAA
[Show Flanks]
- Chromosome:
- 11:17835871
(GRCh38)
11:17857419
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17835871:CTGATTAAA:CTGATTAAACTGATTAAA
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTGATTAAACTGATTAAA=0./0
(
ALFA)
CTGATTAAA=0.000007/1
(GnomAD)
CTGATTAAA=0.000019/5
(TOPMED)
- HGVS:
13.
rs1491242506 has merged into rs200442630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:17907174
(GRCh38)
11:17928721
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17907163:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000011.10:g.17907174_17907183del, NC_000011.10:g.17907175_17907183del, NC_000011.10:g.17907176_17907183del, NC_000011.10:g.17907177_17907183del, NC_000011.10:g.17907178_17907183del, NC_000011.10:g.17907180_17907183del, NC_000011.10:g.17907181_17907183del, NC_000011.10:g.17907182_17907183del, NC_000011.10:g.17907183del, NC_000011.10:g.17907183dup, NC_000011.10:g.17907182_17907183dup, NC_000011.10:g.17907181_17907183dup, NC_000011.10:g.17907180_17907183dup, NC_000011.10:g.17907179_17907183dup, NC_000011.10:g.17907178_17907183dup, NC_000011.10:g.17907170_17907183dup, NC_000011.10:g.17907167_17907183dup, NC_000011.9:g.17928721_17928730del, NC_000011.9:g.17928722_17928730del, NC_000011.9:g.17928723_17928730del, NC_000011.9:g.17928724_17928730del, NC_000011.9:g.17928725_17928730del, NC_000011.9:g.17928727_17928730del, NC_000011.9:g.17928728_17928730del, NC_000011.9:g.17928729_17928730del, NC_000011.9:g.17928730del, NC_000011.9:g.17928730dup, NC_000011.9:g.17928729_17928730dup, NC_000011.9:g.17928728_17928730dup, NC_000011.9:g.17928727_17928730dup, NC_000011.9:g.17928726_17928730dup, NC_000011.9:g.17928725_17928730dup, NC_000011.9:g.17928717_17928730dup, NC_000011.9:g.17928714_17928730dup
14.
rs1491224706 has merged into rs1174880141 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:17963377
(GRCh38)
11:17984924
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:17963364:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.17963377_17963395del, NC_000011.10:g.17963380_17963395del, NC_000011.10:g.17963381_17963395del, NC_000011.10:g.17963382_17963395del, NC_000011.10:g.17963383_17963395del, NC_000011.10:g.17963384_17963395del, NC_000011.10:g.17963385_17963395del, NC_000011.10:g.17963386_17963395del, NC_000011.10:g.17963387_17963395del, NC_000011.10:g.17963388_17963395del, NC_000011.10:g.17963389_17963395del, NC_000011.10:g.17963390_17963395del, NC_000011.10:g.17963391_17963395del, NC_000011.10:g.17963392_17963395del, NC_000011.10:g.17963393_17963395del, NC_000011.10:g.17963394_17963395del, NC_000011.10:g.17963395del, NC_000011.10:g.17963395dup, NC_000011.10:g.17963394_17963395dup, NC_000011.10:g.17963393_17963395dup, NC_000011.10:g.17963392_17963395dup, NC_000011.10:g.17963391_17963395dup, NC_000011.10:g.17963390_17963395dup, NC_000011.10:g.17963389_17963395dup, NC_000011.10:g.17963388_17963395dup, NC_000011.10:g.17963384_17963395dup, NC_000011.9:g.17984924_17984942del, NC_000011.9:g.17984927_17984942del, NC_000011.9:g.17984928_17984942del, NC_000011.9:g.17984929_17984942del, NC_000011.9:g.17984930_17984942del, NC_000011.9:g.17984931_17984942del, NC_000011.9:g.17984932_17984942del, NC_000011.9:g.17984933_17984942del, NC_000011.9:g.17984934_17984942del, NC_000011.9:g.17984935_17984942del, NC_000011.9:g.17984936_17984942del, NC_000011.9:g.17984937_17984942del, NC_000011.9:g.17984938_17984942del, NC_000011.9:g.17984939_17984942del, NC_000011.9:g.17984940_17984942del, NC_000011.9:g.17984941_17984942del, NC_000011.9:g.17984942del, NC_000011.9:g.17984942dup, NC_000011.9:g.17984941_17984942dup, NC_000011.9:g.17984940_17984942dup, NC_000011.9:g.17984939_17984942dup, NC_000011.9:g.17984938_17984942dup, NC_000011.9:g.17984937_17984942dup, NC_000011.9:g.17984936_17984942dup, NC_000011.9:g.17984935_17984942dup, NC_000011.9:g.17984931_17984942dup
16.
rs1491147074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGAGAGAGG>-,AAGAGAGAGGAAGAGAGAGG
[Show Flanks]
- Chromosome:
- 11:17830544
(GRCh38)
11:17852091
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17830534:AGAGAGAGGAAGAGAGAGG:AGAGAGAGG,NC_000011.10:17830534:AGAGAGAGGAAGAGAGAGG:AGAGAGAGGAAGAGAGAGGAAGAGAGAGG
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGGAAGAGAGAGGAAGAGAGAGG=0./0
(
ALFA)
- HGVS:
17.
rs1491126272 has merged into rs71047568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 11:17998544
(GRCh38)
11:18020091
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17998528:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000011.10:17998528:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000011.10:17998528:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17998528:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17998528:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17998528:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000011.10:17998528:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.15/6
(GENOME_DK)
- HGVS:
NC_000011.10:g.17998530GT[7], NC_000011.10:g.17998530GT[8], NC_000011.10:g.17998530GT[10], NC_000011.10:g.17998530GT[11], NC_000011.10:g.17998530GT[12], NC_000011.10:g.17998530GT[13], NC_000011.10:g.17998530GT[14], NC_000011.9:g.18020077GT[7], NC_000011.9:g.18020077GT[8], NC_000011.9:g.18020077GT[10], NC_000011.9:g.18020077GT[11], NC_000011.9:g.18020077GT[12], NC_000011.9:g.18020077GT[13], NC_000011.9:g.18020077GT[14]
18.
rs1491103260 has merged into rs150695737 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCATTCATTCATTCA>-,TTCA,TTCATTCA,TTCATTCATTCA,TTCATTCATTCATTCATTCA,TTCATTCATTCATTCATTCATTCA
[Show Flanks]
- Chromosome:
- 11:17863621
(GRCh38)
11:17885168
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17863607:ATTCATTCATTCATTCATTCATTCATTCA:ATTCATTCATTCA,NC_000011.10:17863607:ATTCATTCATTCATTCATTCATTCATTCA:ATTCATTCATTCATTCA,NC_000011.10:17863607:ATTCATTCATTCATTCATTCATTCATTCA:ATTCATTCATTCATTCATTCA,NC_000011.10:17863607:ATTCATTCATTCATTCATTCATTCATTCA:ATTCATTCATTCATTCATTCATTCA,NC_000011.10:17863607:ATTCATTCATTCATTCATTCATTCATTCA:ATTCATTCATTCATTCATTCATTCATTCATTCA,NC_000011.10:17863607:ATTCATTCATTCATTCATTCATTCATTCA:ATTCATTCATTCATTCATTCATTCATTCATTCATTCA
- Gene:
- SERGEF (Varview), LOC124902642 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTCATTCATTCATTCATTCA=0./0
(
ALFA)
ATTC=0.025/1
(GENOME_DK)
ATTC=0.02505/25
(GoNL)
-=0.06311/310
(1000Genomes)
- HGVS:
NC_000011.10:g.17863609TTCA[3], NC_000011.10:g.17863609TTCA[4], NC_000011.10:g.17863609TTCA[5], NC_000011.10:g.17863609TTCA[6], NC_000011.10:g.17863609TTCA[8], NC_000011.10:g.17863609TTCA[9], NC_000011.9:g.17885156TTCA[3], NC_000011.9:g.17885156TTCA[4], NC_000011.9:g.17885156TTCA[5], NC_000011.9:g.17885156TTCA[6], NC_000011.9:g.17885156TTCA[8], NC_000011.9:g.17885156TTCA[9], XR_007062610.1:n.239GAAT[3], XR_007062610.1:n.239GAAT[4], XR_007062610.1:n.239GAAT[5], XR_007062610.1:n.239GAAT[6], XR_007062610.1:n.239GAAT[8], XR_007062610.1:n.239GAAT[9]
19.
rs1491093708 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 11:17830541
(GRCh38)
11:17852088
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17830533:GAGAGAGAG:GAGAGAG
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAG=0./0
(
ALFA)
-=0.000047/6
(GnomAD)
- HGVS:
20.
rs1491087625 has merged into rs557468332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 11:17879209
(GRCh38)
11:17900756
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17879207:GGG:G
- Gene:
- SERGEF (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.003338/468
(GnomAD)
-=0.003904/25
(1000Genomes)
- HGVS: