Links from Gene
Items: 1 to 20 of 45779
1.
rs1491587582 has merged into rs750484696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C
[Show Flanks]
- Chromosome:
- 13:34541359
(GRCh38)
13:35115496
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34541353:CCCCCCC:CCCCC,NC_000013.11:34541353:CCCCCCC:CCCCCC
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.1758/652
(TWINSUK)
-=0.1917/739
(ALSPAC)
-=0.25/10
(GENOME_DK)
- HGVS:
2.
rs1491587233 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAA,AGAAAGAA,AGAAAGAAAGAA,AGAAAGAAAGAAAGAA,AGAAAGAAAGAAAGAAAGAA
[Show Flanks]
- Chromosome:
- 13:34500272
(GRCh38)
13:35074410
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34500272:GAA:GAAAGAA,NC_000013.11:34500272:GAA:GAAAGAAAGAA,NC_000013.11:34500272:GAA:GAAAGAAAGAAAGAA,NC_000013.11:34500272:GAA:GAAAGAAAGAAAGAAAGAA,NC_000013.11:34500272:GAA:GAAAGAAAGAAAGAAAGAAAGAA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
3.
rs1491572947 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 13:34586141
(GRCh38)
13:35160278
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34586140:GG:
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
4.
rs1491572481 has merged into rs543611170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 13:34585942
(GRCh38)
13:35160079
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34585940:AAAAA:A,NC_000013.11:34585940:AAAAA:AAA,NC_000013.11:34585940:AAAAA:AAAA,NC_000013.11:34585940:AAAAA:AAAAAA,NC_000013.11:34585940:AAAAA:AAAAAAA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
6.
rs1491553601 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-,GAGA,GAGAAAGAAAGAGA,GAGAAAGAAAGAGAGAGA,GAGAGAGA
[Show Flanks]
- Chromosome:
- 13:34586105
(GRCh38)
13:35160242
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34586103:AGA:A,NC_000013.11:34586103:AGA:AGAGA,NC_000013.11:34586103:AGA:AGAGAAAGAAAGAGA,NC_000013.11:34586103:AGA:AGAGAAAGAAAGAGAGAGA,NC_000013.11:34586103:AGA:AGAGAGAGA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
7.
rs1491537162 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAA
[Show Flanks]
- Chromosome:
- 13:34586141
(GRCh38)
13:35160279
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34586141::AAA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
AAA=0.0007/12
(TOMMO)
AAA=0.00178/95
(GnomAD)
- HGVS:
11.
rs1491482749 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,GG
[Show Flanks]
- Chromosome:
- 13:34586037
(GRCh38)
13:35160175
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34586037::G,NC_000013.11:34586037::GG
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.03455/250
(TOMMO)
G=0.04905/36
(Korea1K)
- HGVS:
12.
rs1491460795 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:34555188
(GRCh38)
13:35129325
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34555186:TCT:T
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.032397/346
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.065264/242
(TWINSUK)
-=0.068241/263
(ALSPAC)
- HGVS:
13.
rs1491458484 has merged into rs556198439 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AA,AAA,AAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 13:34586046
(GRCh38)
13:35160183
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34586044:AAAAAA:A,NC_000013.11:34586044:AAAAAA:AAA,NC_000013.11:34586044:AAAAAA:AAAA,NC_000013.11:34586044:AAAAAA:AAAAA,NC_000013.11:34586044:AAAAAA:AAAAAAA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
14.
rs1491452805 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 13:34642240
(GRCh38)
13:35216377
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34642239:AC:
- Gene:
- LINC00457 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00306/50
(
ALFA)
-=0.00815/137
(TOMMO)
-=0.01056/1021
(GnomAD)
-=0.01093/20
(Korea1K)
- HGVS:
15.
rs1491449879 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGAAAGAA
[Show Flanks]
- Chromosome:
- 13:34585945
(GRCh38)
13:35160083
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34585945:GAAAGAA:GAAAGAAGGAAAGAA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAAAGAAGGAAAGAA=0.00025/3
(
ALFA)
GAAAGAAG=0.00069/36
(GnomAD)
- HGVS:
16.
rs1491420275 has merged into rs201090239 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAGAAAGAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAGAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAGAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAGAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAGAAAAAGAAGAAAAAGAAAGAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:34446950
(GRCh38)
13:35021087
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAGAAAGAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAGAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAA,NC_000013.11:34446940:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAGAAGAAAAAGAAAGAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.34446950_34446957del, NC_000013.11:g.34446951_34446957del, NC_000013.11:g.34446953_34446957del, NC_000013.11:g.34446954_34446957del, NC_000013.11:g.34446955_34446957del, NC_000013.11:g.34446956_34446957del, NC_000013.11:g.34446957del, NC_000013.11:g.34446957dup, NC_000013.11:g.34446956_34446957dup, NC_000013.11:g.34446955_34446957dup, NC_000013.11:g.34446954_34446957dup, NC_000013.11:g.34446952_34446957dup, NC_000013.11:g.34446950_34446957dup, NC_000013.11:g.34446947_34446957dup, NC_000013.11:g.34446944_34446957dup, NC_000013.11:g.34446943_34446957dup, NC_000013.11:g.34446941_34446957dup, NC_000013.11:g.34446957_34446958insAAAAAAAAAAAAAAAAAA, NC_000013.11:g.34446957_34446958insAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.34446941_34446957A[41]GAAAAAGAAGAAAGAAAAAAAAAAAAAAAAAA[1], NC_000013.11:g.34446941_34446957A[25]GAAAAAAAAAAAA[2]A[6], NC_000013.11:g.34446941_34446957A[22]CAAAAGAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAA[1], NC_000013.11:g.34446941_34446957A[21]GAAAAAAAAAAAAAAAAAA[1], NC_000013.11:g.34446941_34446957A[21]GAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAAAAA[1], NC_000013.11:g.34446941_34446957A[21]GAAAAA[2]AGAAAAAAAAAAAAAAAAAA[1], NC_000013.11:g.34446941_34446957A[21]GAAAAAGAA[2]AGAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.35021087_35021094del, NC_000013.10:g.35021088_35021094del, NC_000013.10:g.35021090_35021094del, NC_000013.10:g.35021091_35021094del, NC_000013.10:g.35021092_35021094del, NC_000013.10:g.35021093_35021094del, NC_000013.10:g.35021094del, NC_000013.10:g.35021094dup, NC_000013.10:g.35021093_35021094dup, NC_000013.10:g.35021092_35021094dup, NC_000013.10:g.35021091_35021094dup, NC_000013.10:g.35021089_35021094dup, NC_000013.10:g.35021087_35021094dup, NC_000013.10:g.35021084_35021094dup, NC_000013.10:g.35021081_35021094dup, NC_000013.10:g.35021080_35021094dup, NC_000013.10:g.35021078_35021094dup, NC_000013.10:g.35021094_35021095insAAAAAAAAAAAAAAAAAA, NC_000013.10:g.35021094_35021095insAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.35021078_35021094A[41]GAAAAAGAAGAAAGAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.35021078_35021094A[25]GAAAAAAAAAAAA[2]A[6], NC_000013.10:g.35021078_35021094A[22]CAAAAGAAAAAGAAAAAAGAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.35021078_35021094A[21]GAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.35021078_35021094A[21]GAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.35021078_35021094A[21]GAAAAA[2]AGAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.35021078_35021094A[21]GAAAAAGAA[2]AGAAAAAAAAAAAAAAAAAA[1]
17.
rs1491412531 has merged into rs55937915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACATATATGTATATGTACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 13:34595539
(GRCh38)
13:35169676
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000013.11:34595523:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACATATATGTATATGTACACACACACACACACACACACACACACACACACA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000013.11:g.34595525CA[7], NC_000013.11:g.34595525CA[8], NC_000013.11:g.34595525CA[9], NC_000013.11:g.34595525CA[10], NC_000013.11:g.34595525CA[11], NC_000013.11:g.34595525CA[12], NC_000013.11:g.34595525CA[14], NC_000013.11:g.34595525CA[15], NC_000013.11:g.34595525CA[16], NC_000013.11:g.34595525CA[17], NC_000013.11:g.34595525CA[18], NC_000013.11:g.34595525CA[19], NC_000013.11:g.34595525CA[20], NC_000013.11:g.34595525CA[21], NC_000013.11:g.34595525CA[22], NC_000013.11:g.34595525CA[23], NC_000013.11:g.34595525CA[24], NC_000013.11:g.34595524_34595550AC[14]AT[3]GTATATGTACACACACACACACACACACACACACACACACACA[1], NC_000013.10:g.35169662CA[7], NC_000013.10:g.35169662CA[8], NC_000013.10:g.35169662CA[9], NC_000013.10:g.35169662CA[10], NC_000013.10:g.35169662CA[11], NC_000013.10:g.35169662CA[12], NC_000013.10:g.35169662CA[14], NC_000013.10:g.35169662CA[15], NC_000013.10:g.35169662CA[16], NC_000013.10:g.35169662CA[17], NC_000013.10:g.35169662CA[18], NC_000013.10:g.35169662CA[19], NC_000013.10:g.35169662CA[20], NC_000013.10:g.35169662CA[21], NC_000013.10:g.35169662CA[22], NC_000013.10:g.35169662CA[23], NC_000013.10:g.35169662CA[24], NC_000013.10:g.35169661_35169687AC[14]AT[3]GTATATGTACACACACACACACACACACACACACACACACACA[1]
18.
rs1491367660 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:34586078
(GRCh38)
13:35160216
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34586078::G
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00674/99
(TOMMO)
G=0.00933/154
(GnomAD)
- HGVS:
19.
rs1491367613 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 13:34500272
(GRCh38)
13:35074409
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34500271:GG:
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00004/1
(TOMMO)
- HGVS:
20.
rs1491330525 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AAA,AGA
[Show Flanks]
- Chromosome:
- 13:34586004
(GRCh38)
13:35160142
(GRCh37)
- Canonical SPDI:
- NC_000013.11:34586004::A,NC_000013.11:34586004::AAA,NC_000013.11:34586004::AGA
- Gene:
- LINC00457 (Varview), LINC02343 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0./0
(
ALFA)
AAA=0.00502/80
(TOMMO)
AAA=0.01082/5
(NorthernSweden)
- HGVS: