Links from Gene
Items: 1 to 20 of 1000
1.
rs1491578819 has merged into rs1473882822 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATTATATATTATTATAATATGTAT>-,ATATTATATATTATTATAATATGTATATATTATATATTATTATAATATGTAT
[Show Flanks]
- Chromosome:
- 4:123681517
(GRCh38)
4:124602672
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123681504:TATAATATGTATATATTATATATTATTATAATATGTAT:TATAATATGTAT,NC_000004.12:123681504:TATAATATGTATATATTATATATTATTATAATATGTAT:TATAATATGTATATATTATATATTATTATAATATGTATATATTATATATTATTATAATATGTAT
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAATATGTATATATTATATATTATTATAATATGTATATATTATATATTATTATAATATGTAT=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
TATAATATGTATATATTATATATTAT=0.000035/1
(TOMMO)
- HGVS:
2.
rs1491550973 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 4:123857790
(GRCh38)
4:124778946
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123857790::A
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00002/2
(GnomAD)
- HGVS:
4.
rs1491533929 has merged into rs397995271 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:123751060
(GRCh38)
4:124672215
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123751047:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.123751060_123751074del, NC_000004.12:g.123751061_123751074del, NC_000004.12:g.123751062_123751074del, NC_000004.12:g.123751063_123751074del, NC_000004.12:g.123751064_123751074del, NC_000004.12:g.123751065_123751074del, NC_000004.12:g.123751066_123751074del, NC_000004.12:g.123751067_123751074del, NC_000004.12:g.123751068_123751074del, NC_000004.12:g.123751069_123751074del, NC_000004.12:g.123751070_123751074del, NC_000004.12:g.123751071_123751074del, NC_000004.12:g.123751072_123751074del, NC_000004.12:g.123751073_123751074del, NC_000004.12:g.123751074del, NC_000004.12:g.123751074dup, NC_000004.12:g.123751073_123751074dup, NC_000004.12:g.123751072_123751074dup, NC_000004.12:g.123751071_123751074dup, NC_000004.12:g.123751069_123751074dup, NC_000004.12:g.123751068_123751074dup, NC_000004.11:g.124672215_124672229del, NC_000004.11:g.124672216_124672229del, NC_000004.11:g.124672217_124672229del, NC_000004.11:g.124672218_124672229del, NC_000004.11:g.124672219_124672229del, NC_000004.11:g.124672220_124672229del, NC_000004.11:g.124672221_124672229del, NC_000004.11:g.124672222_124672229del, NC_000004.11:g.124672223_124672229del, NC_000004.11:g.124672224_124672229del, NC_000004.11:g.124672225_124672229del, NC_000004.11:g.124672226_124672229del, NC_000004.11:g.124672227_124672229del, NC_000004.11:g.124672228_124672229del, NC_000004.11:g.124672229del, NC_000004.11:g.124672229dup, NC_000004.11:g.124672228_124672229dup, NC_000004.11:g.124672227_124672229dup, NC_000004.11:g.124672226_124672229dup, NC_000004.11:g.124672224_124672229dup, NC_000004.11:g.124672223_124672229dup
5.
rs1491526366 has merged into rs753372659 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 4:123743464
(GRCh38)
4:124664619
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000004.12:123743450:CACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000004.12:g.123743452AC[6], NC_000004.12:g.123743452AC[7], NC_000004.12:g.123743452AC[8], NC_000004.12:g.123743452AC[9], NC_000004.12:g.123743452AC[10], NC_000004.12:g.123743452AC[11], NC_000004.12:g.123743452AC[13], NC_000004.12:g.123743452AC[14], NC_000004.12:g.123743452AC[15], NC_000004.11:g.124664607AC[6], NC_000004.11:g.124664607AC[7], NC_000004.11:g.124664607AC[8], NC_000004.11:g.124664607AC[9], NC_000004.11:g.124664607AC[10], NC_000004.11:g.124664607AC[11], NC_000004.11:g.124664607AC[13], NC_000004.11:g.124664607AC[14], NC_000004.11:g.124664607AC[15]
7.
rs1491516333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:123734487
(GRCh38)
4:124655642
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123734485:ACA:A
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0029/11
(ALSPAC)
-=0.0043/16
(TWINSUK)
- HGVS:
8.
rs1491513093 has merged into rs572350849 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGAGAGAGA>-,GA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 4:123776517
(GRCh38)
4:124697672
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:123776500:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.123776501GA[8], NC_000004.12:g.123776501GA[9], NC_000004.12:g.123776501GA[13], NC_000004.12:g.123776501GA[14], NC_000004.12:g.123776501GA[15], NC_000004.12:g.123776501GA[16], NC_000004.12:g.123776501GA[18], NC_000004.12:g.123776501GA[19], NC_000004.12:g.123776501GA[20], NC_000004.12:g.123776501GA[21], NC_000004.12:g.123776501GA[22], NC_000004.12:g.123776501GA[23], NC_000004.12:g.123776501GA[24], NC_000004.12:g.123776501GA[25], NC_000004.12:g.123776501GA[26], NC_000004.12:g.123776501GA[27], NC_000004.12:g.123776501GA[28], NC_000004.12:g.123776501GA[29], NC_000004.12:g.123776501GA[30], NC_000004.12:g.123776501GA[31], NC_000004.12:g.123776501GA[32], NC_000004.12:g.123776501GA[33], NC_000004.12:g.123776501GA[34], NC_000004.12:g.123776501GA[35], NC_000004.12:g.123776501GA[36], NC_000004.12:g.123776501GA[37], NC_000004.12:g.123776501GA[38], NC_000004.12:g.123776501GA[45], NC_000004.11:g.124697656GA[8], NC_000004.11:g.124697656GA[9], NC_000004.11:g.124697656GA[13], NC_000004.11:g.124697656GA[14], NC_000004.11:g.124697656GA[15], NC_000004.11:g.124697656GA[16], NC_000004.11:g.124697656GA[18], NC_000004.11:g.124697656GA[19], NC_000004.11:g.124697656GA[20], NC_000004.11:g.124697656GA[21], NC_000004.11:g.124697656GA[22], NC_000004.11:g.124697656GA[23], NC_000004.11:g.124697656GA[24], NC_000004.11:g.124697656GA[25], NC_000004.11:g.124697656GA[26], NC_000004.11:g.124697656GA[27], NC_000004.11:g.124697656GA[28], NC_000004.11:g.124697656GA[29], NC_000004.11:g.124697656GA[30], NC_000004.11:g.124697656GA[31], NC_000004.11:g.124697656GA[32], NC_000004.11:g.124697656GA[33], NC_000004.11:g.124697656GA[34], NC_000004.11:g.124697656GA[35], NC_000004.11:g.124697656GA[36], NC_000004.11:g.124697656GA[37], NC_000004.11:g.124697656GA[38], NC_000004.11:g.124697656GA[45]
9.
rs1491491250 has merged into rs58322597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:123868957
(GRCh38)
4:124790112
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123868947:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.123868957_123868968del, NC_000004.12:g.123868962_123868968del, NC_000004.12:g.123868963_123868968del, NC_000004.12:g.123868964_123868968del, NC_000004.12:g.123868965_123868968del, NC_000004.12:g.123868966_123868968del, NC_000004.12:g.123868967_123868968del, NC_000004.12:g.123868968del, NC_000004.12:g.123868968dup, NC_000004.12:g.123868967_123868968dup, NC_000004.12:g.123868966_123868968dup, NC_000004.12:g.123868965_123868968dup, NC_000004.12:g.123868964_123868968dup, NC_000004.12:g.123868963_123868968dup, NC_000004.12:g.123868962_123868968dup, NC_000004.12:g.123868961_123868968dup, NC_000004.12:g.123868956_123868968dup, NC_000004.12:g.123868954_123868968dup, NC_000004.12:g.123868953_123868968dup, NC_000004.12:g.123868952_123868968dup, NC_000004.12:g.123868951_123868968dup, NC_000004.11:g.124790112_124790123del, NC_000004.11:g.124790117_124790123del, NC_000004.11:g.124790118_124790123del, NC_000004.11:g.124790119_124790123del, NC_000004.11:g.124790120_124790123del, NC_000004.11:g.124790121_124790123del, NC_000004.11:g.124790122_124790123del, NC_000004.11:g.124790123del, NC_000004.11:g.124790123dup, NC_000004.11:g.124790122_124790123dup, NC_000004.11:g.124790121_124790123dup, NC_000004.11:g.124790120_124790123dup, NC_000004.11:g.124790119_124790123dup, NC_000004.11:g.124790118_124790123dup, NC_000004.11:g.124790117_124790123dup, NC_000004.11:g.124790116_124790123dup, NC_000004.11:g.124790111_124790123dup, NC_000004.11:g.124790109_124790123dup, NC_000004.11:g.124790108_124790123dup, NC_000004.11:g.124790107_124790123dup, NC_000004.11:g.124790106_124790123dup
10.
rs1491481824 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:123868947
(GRCh38)
4:124790102
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123868946:CA:
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00632/75
(
ALFA)
-=0.00067/19
(TOMMO)
- HGVS:
12.
rs1491455297 has merged into rs146012446 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:123857798
(GRCh38)
4:124778953
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123857789:TTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:123857789:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:123857789:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:123857789:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:123857789:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:123857789:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:123857789:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.10843/543
(1000Genomes)
-=0.12333/74
(NorthernSweden)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000004.12:g.123857798_123857802del, NC_000004.12:g.123857801_123857802del, NC_000004.12:g.123857802del, NC_000004.12:g.123857802dup, NC_000004.12:g.123857801_123857802dup, NC_000004.12:g.123857800_123857802dup, NC_000004.12:g.123857799_123857802dup, NC_000004.11:g.124778953_124778957del, NC_000004.11:g.124778956_124778957del, NC_000004.11:g.124778957del, NC_000004.11:g.124778957dup, NC_000004.11:g.124778956_124778957dup, NC_000004.11:g.124778955_124778957dup, NC_000004.11:g.124778954_124778957dup, NG_053748.1:g.3240_3244del, NG_053748.1:g.3243_3244del, NG_053748.1:g.3244del, NG_053748.1:g.3244dup, NG_053748.1:g.3243_3244dup, NG_053748.1:g.3242_3244dup, NG_053748.1:g.3241_3244dup
13.
rs1491445787 has merged into rs3062557 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:123701215
(GRCh38)
4:124622370
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:123701205:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.123701215_123701225del, NC_000004.12:g.123701216_123701225del, NC_000004.12:g.123701217_123701225del, NC_000004.12:g.123701218_123701225del, NC_000004.12:g.123701219_123701225del, NC_000004.12:g.123701220_123701225del, NC_000004.12:g.123701221_123701225del, NC_000004.12:g.123701223_123701225del, NC_000004.12:g.123701224_123701225del, NC_000004.12:g.123701225del, NC_000004.12:g.123701225dup, NC_000004.12:g.123701224_123701225dup, NC_000004.12:g.123701223_123701225dup, NC_000004.12:g.123701222_123701225dup, NC_000004.12:g.123701221_123701225dup, NC_000004.12:g.123701220_123701225dup, NC_000004.12:g.123701219_123701225dup, NC_000004.12:g.123701218_123701225dup, NC_000004.12:g.123701217_123701225dup, NC_000004.12:g.123701215_123701225dup, NC_000004.12:g.123701214_123701225dup, NC_000004.12:g.123701213_123701225dup, NC_000004.12:g.123701225_123701226insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.124622370_124622380del, NC_000004.11:g.124622371_124622380del, NC_000004.11:g.124622372_124622380del, NC_000004.11:g.124622373_124622380del, NC_000004.11:g.124622374_124622380del, NC_000004.11:g.124622375_124622380del, NC_000004.11:g.124622376_124622380del, NC_000004.11:g.124622378_124622380del, NC_000004.11:g.124622379_124622380del, NC_000004.11:g.124622380del, NC_000004.11:g.124622380dup, NC_000004.11:g.124622379_124622380dup, NC_000004.11:g.124622378_124622380dup, NC_000004.11:g.124622377_124622380dup, NC_000004.11:g.124622376_124622380dup, NC_000004.11:g.124622375_124622380dup, NC_000004.11:g.124622374_124622380dup, NC_000004.11:g.124622373_124622380dup, NC_000004.11:g.124622372_124622380dup, NC_000004.11:g.124622370_124622380dup, NC_000004.11:g.124622369_124622380dup, NC_000004.11:g.124622368_124622380dup, NC_000004.11:g.124622380_124622381insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
14.
rs1491423914 has merged into rs548624265 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:123860652
(GRCh38)
4:124781807
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123860641:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.10763/539
(1000Genomes)
- HGVS:
NC_000004.12:g.123860652_123860657del, NC_000004.12:g.123860655_123860657del, NC_000004.12:g.123860656_123860657del, NC_000004.12:g.123860657del, NC_000004.12:g.123860657dup, NC_000004.12:g.123860656_123860657dup, NC_000004.12:g.123860653_123860657dup, NC_000004.12:g.123860652_123860657dup, NC_000004.12:g.123860651_123860657dup, NC_000004.12:g.123860650_123860657dup, NC_000004.12:g.123860649_123860657dup, NC_000004.11:g.124781807_124781812del, NC_000004.11:g.124781810_124781812del, NC_000004.11:g.124781811_124781812del, NC_000004.11:g.124781812del, NC_000004.11:g.124781812dup, NC_000004.11:g.124781811_124781812dup, NC_000004.11:g.124781808_124781812dup, NC_000004.11:g.124781807_124781812dup, NC_000004.11:g.124781806_124781812dup, NC_000004.11:g.124781805_124781812dup, NC_000004.11:g.124781804_124781812dup
15.
rs1491384991 has merged into rs71583304 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:123655141
(GRCh38)
4:124576296
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:123655128:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.123655141_123655153del, NC_000004.12:g.123655143_123655153del, NC_000004.12:g.123655144_123655153del, NC_000004.12:g.123655145_123655153del, NC_000004.12:g.123655146_123655153del, NC_000004.12:g.123655147_123655153del, NC_000004.12:g.123655148_123655153del, NC_000004.12:g.123655149_123655153del, NC_000004.12:g.123655150_123655153del, NC_000004.12:g.123655151_123655153del, NC_000004.12:g.123655152_123655153del, NC_000004.12:g.123655153del, NC_000004.12:g.123655153dup, NC_000004.12:g.123655152_123655153dup, NC_000004.12:g.123655151_123655153dup, NC_000004.12:g.123655150_123655153dup, NC_000004.12:g.123655149_123655153dup, NC_000004.12:g.123655148_123655153dup, NC_000004.12:g.123655147_123655153dup, NC_000004.12:g.123655146_123655153dup, NC_000004.12:g.123655145_123655153dup, NC_000004.12:g.123655144_123655153dup, NC_000004.12:g.123655143_123655153dup, NC_000004.12:g.123655142_123655153dup, NC_000004.12:g.123655141_123655153dup, NC_000004.12:g.123655140_123655153dup, NC_000004.12:g.123655139_123655153dup, NC_000004.12:g.123655138_123655153dup, NC_000004.12:g.123655137_123655153dup, NC_000004.11:g.124576296_124576308del, NC_000004.11:g.124576298_124576308del, NC_000004.11:g.124576299_124576308del, NC_000004.11:g.124576300_124576308del, NC_000004.11:g.124576301_124576308del, NC_000004.11:g.124576302_124576308del, NC_000004.11:g.124576303_124576308del, NC_000004.11:g.124576304_124576308del, NC_000004.11:g.124576305_124576308del, NC_000004.11:g.124576306_124576308del, NC_000004.11:g.124576307_124576308del, NC_000004.11:g.124576308del, NC_000004.11:g.124576308dup, NC_000004.11:g.124576307_124576308dup, NC_000004.11:g.124576306_124576308dup, NC_000004.11:g.124576305_124576308dup, NC_000004.11:g.124576304_124576308dup, NC_000004.11:g.124576303_124576308dup, NC_000004.11:g.124576302_124576308dup, NC_000004.11:g.124576301_124576308dup, NC_000004.11:g.124576300_124576308dup, NC_000004.11:g.124576299_124576308dup, NC_000004.11:g.124576298_124576308dup, NC_000004.11:g.124576297_124576308dup, NC_000004.11:g.124576296_124576308dup, NC_000004.11:g.124576295_124576308dup, NC_000004.11:g.124576294_124576308dup, NC_000004.11:g.124576293_124576308dup, NC_000004.11:g.124576292_124576308dup
16.
rs1491366719 has merged into rs138907661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA
[Show Flanks]
- Chromosome:
- 4:123829527
(GRCh38)
4:124750682
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123829517:ACACACACACACACA:ACACACACA,NC_000004.12:123829517:ACACACACACACACA:ACACACACACACA,NC_000004.12:123829517:ACACACACACACACA:ACACACACACACACACA,NC_000004.12:123829517:ACACACACACACACA:ACACACACACACACACACA,NC_000004.12:123829517:ACACACACACACACA:ACACACACACACACACACACA
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
-=0.00022/1
(Estonian)
AC=0.01278/64
(1000Genomes)
AC=0.025/1
(GENOME_DK)
- HGVS:
17.
rs1491362761 has merged into rs869163498 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ACG,G
[Show Flanks]
- Chromosome:
- 4:123743449
(GRCh38)
4:124664605
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123743449::A,NC_000004.12:123743449::ACG,NC_000004.12:123743449::G
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
- HGVS:
18.
rs1491358414 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 4:123879438
(GRCh38)
4:124800593
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123879437:CG:
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000041/5
(GnomAD)
- HGVS:
20.
rs1491335791 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 4:123691008
(GRCh38)
4:124612164
(GRCh37)
- Canonical SPDI:
- NC_000004.12:123691008::C
- Gene:
- LINC01091 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: