Links from Gene
Items: 1 to 20 of 20746
1.
rs1491546441 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:64043152
(GRCh38)
13:64617286
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64043152::C
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000212/2
(TOMMO)
- HGVS:
2.
rs1491538190 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 13:64074205
(GRCh38)
13:64648338
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64074204:TG:
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000049/6
(GnomAD)
- HGVS:
3.
rs1491527069 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 13:64074205
(GRCh38)
13:64648339
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64074205::AC
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AC=0./0
(
ALFA)
AC=0.000008/1
(GnomAD)
AC=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491498932 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 13:64021027
(GRCh38)
13:64595160
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64021026:GT:
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0148/55
(TWINSUK)
-=0.0171/66
(ALSPAC)
- HGVS:
5.
rs1491454271 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 13:64017535
(GRCh38)
13:64591668
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64017533:TAT:T
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1491404516 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCACACACACACAC
[Show Flanks]
- Chromosome:
- 13:64061215
(GRCh38)
13:64635349
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64061215:CACACACACACAC:CACACACACACACTCACACACACACAC
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACACACACACACTCACACACACACAC=0./0
(
ALFA)
CACACACACACACT=0.00051/1
(GnomAD)
- HGVS:
7.
rs1491375531 has merged into rs796125576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 13:64059816
(GRCh38)
13:64633949
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64059808:ACACACACACACACACACA:ACACACA,NC_000013.11:64059808:ACACACACACACACACACA:ACACACACACA,NC_000013.11:64059808:ACACACACACACACACACA:ACACACACACACA,NC_000013.11:64059808:ACACACACACACACACACA:ACACACACACACACA,NC_000013.11:64059808:ACACACACACACACACACA:ACACACACACACACACA,NC_000013.11:64059808:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000013.11:64059808:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000013.11:64059808:ACACACACACACACACACA:ACACACACACACACACACACACACA
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000013.11:g.64059810CA[3], NC_000013.11:g.64059810CA[5], NC_000013.11:g.64059810CA[6], NC_000013.11:g.64059810CA[7], NC_000013.11:g.64059810CA[8], NC_000013.11:g.64059810CA[10], NC_000013.11:g.64059810CA[11], NC_000013.11:g.64059810CA[12], NC_000013.10:g.64633943CA[3], NC_000013.10:g.64633943CA[5], NC_000013.10:g.64633943CA[6], NC_000013.10:g.64633943CA[7], NC_000013.10:g.64633943CA[8], NC_000013.10:g.64633943CA[10], NC_000013.10:g.64633943CA[11], NC_000013.10:g.64633943CA[12]
8.
rs1491246396 has merged into rs66491404 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:64043162
(GRCh38)
13:64617295
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:64043151:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.3319/1662
(1000Genomes)
- HGVS:
NC_000013.11:g.64043162_64043168del, NC_000013.11:g.64043163_64043168del, NC_000013.11:g.64043165_64043168del, NC_000013.11:g.64043166_64043168del, NC_000013.11:g.64043167_64043168del, NC_000013.11:g.64043168del, NC_000013.11:g.64043168dup, NC_000013.11:g.64043167_64043168dup, NC_000013.11:g.64043166_64043168dup, NC_000013.11:g.64043165_64043168dup, NC_000013.11:g.64043164_64043168dup, NC_000013.11:g.64043163_64043168dup, NC_000013.11:g.64043162_64043168dup, NC_000013.11:g.64043161_64043168dup, NC_000013.11:g.64043160_64043168dup, NC_000013.11:g.64043159_64043168dup, NC_000013.11:g.64043158_64043168dup, NC_000013.10:g.64617295_64617301del, NC_000013.10:g.64617296_64617301del, NC_000013.10:g.64617298_64617301del, NC_000013.10:g.64617299_64617301del, NC_000013.10:g.64617300_64617301del, NC_000013.10:g.64617301del, NC_000013.10:g.64617301dup, NC_000013.10:g.64617300_64617301dup, NC_000013.10:g.64617299_64617301dup, NC_000013.10:g.64617298_64617301dup, NC_000013.10:g.64617297_64617301dup, NC_000013.10:g.64617296_64617301dup, NC_000013.10:g.64617295_64617301dup, NC_000013.10:g.64617294_64617301dup, NC_000013.10:g.64617293_64617301dup, NC_000013.10:g.64617292_64617301dup, NC_000013.10:g.64617291_64617301dup
10.
rs1491153123 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:64002816
(GRCh38)
13:64576949
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64002815:CA:
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491107254 has merged into rs67172033 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:64062233
(GRCh38)
13:64636366
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:64062223:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.64062233_64062249del, NC_000013.11:g.64062236_64062249del, NC_000013.11:g.64062237_64062249del, NC_000013.11:g.64062238_64062249del, NC_000013.11:g.64062239_64062249del, NC_000013.11:g.64062240_64062249del, NC_000013.11:g.64062241_64062249del, NC_000013.11:g.64062242_64062249del, NC_000013.11:g.64062243_64062249del, NC_000013.11:g.64062244_64062249del, NC_000013.11:g.64062245_64062249del, NC_000013.11:g.64062246_64062249del, NC_000013.11:g.64062247_64062249del, NC_000013.11:g.64062248_64062249del, NC_000013.11:g.64062249del, NC_000013.11:g.64062249dup, NC_000013.11:g.64062248_64062249dup, NC_000013.11:g.64062247_64062249dup, NC_000013.11:g.64062246_64062249dup, NC_000013.11:g.64062245_64062249dup, NC_000013.11:g.64062244_64062249dup, NC_000013.11:g.64062243_64062249dup, NC_000013.11:g.64062242_64062249dup, NC_000013.11:g.64062241_64062249dup, NC_000013.11:g.64062240_64062249dup, NC_000013.11:g.64062239_64062249dup, NC_000013.11:g.64062238_64062249dup, NC_000013.11:g.64062237_64062249dup, NC_000013.11:g.64062236_64062249dup, NC_000013.11:g.64062234_64062249dup, NC_000013.11:g.64062228_64062249dup, NC_000013.11:g.64062249_64062250insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.64062249_64062250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.64062249_64062250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.64062249_64062250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.64062249_64062250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.64062249_64062250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.64636366_64636382del, NC_000013.10:g.64636369_64636382del, NC_000013.10:g.64636370_64636382del, NC_000013.10:g.64636371_64636382del, NC_000013.10:g.64636372_64636382del, NC_000013.10:g.64636373_64636382del, NC_000013.10:g.64636374_64636382del, NC_000013.10:g.64636375_64636382del, NC_000013.10:g.64636376_64636382del, NC_000013.10:g.64636377_64636382del, NC_000013.10:g.64636378_64636382del, NC_000013.10:g.64636379_64636382del, NC_000013.10:g.64636380_64636382del, NC_000013.10:g.64636381_64636382del, NC_000013.10:g.64636382del, NC_000013.10:g.64636382dup, NC_000013.10:g.64636381_64636382dup, NC_000013.10:g.64636380_64636382dup, NC_000013.10:g.64636379_64636382dup, NC_000013.10:g.64636378_64636382dup, NC_000013.10:g.64636377_64636382dup, NC_000013.10:g.64636376_64636382dup, NC_000013.10:g.64636375_64636382dup, NC_000013.10:g.64636374_64636382dup, NC_000013.10:g.64636373_64636382dup, NC_000013.10:g.64636372_64636382dup, NC_000013.10:g.64636371_64636382dup, NC_000013.10:g.64636370_64636382dup, NC_000013.10:g.64636369_64636382dup, NC_000013.10:g.64636367_64636382dup, NC_000013.10:g.64636361_64636382dup, NC_000013.10:g.64636382_64636383insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.64636382_64636383insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.64636382_64636383insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.64636382_64636383insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.64636382_64636383insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.64636382_64636383insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
12.
rs1491051996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 13:63996990
(GRCh38)
13:64571124
(GRCh37)
- Canonical SPDI:
- NC_000013.11:63996990:TATA:TATATA
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATA=0./0
(
ALFA)
TA=0.000022/3
(GnomAD)
- HGVS:
13.
rs1491046621 has merged into rs3038984 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 13:64041755
(GRCh38)
13:64615888
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000013.11:64041738:ATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATAT=0./0
(
ALFA)
-=0.0058/8
(Korea1K)
-=0.026/15
(NorthernSweden)
- HGVS:
NC_000013.11:g.64041739AT[8], NC_000013.11:g.64041739AT[9], NC_000013.11:g.64041739AT[10], NC_000013.11:g.64041739AT[11], NC_000013.11:g.64041739AT[12], NC_000013.11:g.64041739AT[13], NC_000013.11:g.64041739AT[14], NC_000013.11:g.64041739AT[15], NC_000013.11:g.64041739AT[16], NC_000013.11:g.64041739AT[17], NC_000013.11:g.64041739AT[19], NC_000013.11:g.64041739AT[20], NC_000013.11:g.64041739AT[21], NC_000013.11:g.64041739AT[22], NC_000013.11:g.64041739AT[23], NC_000013.11:g.64041739AT[24], NC_000013.11:g.64041739AT[25], NC_000013.11:g.64041739AT[26], NC_000013.11:g.64041739AT[27], NC_000013.11:g.64041739AT[28], NC_000013.11:g.64041739AT[29], NC_000013.10:g.64615872AT[8], NC_000013.10:g.64615872AT[9], NC_000013.10:g.64615872AT[10], NC_000013.10:g.64615872AT[11], NC_000013.10:g.64615872AT[12], NC_000013.10:g.64615872AT[13], NC_000013.10:g.64615872AT[14], NC_000013.10:g.64615872AT[15], NC_000013.10:g.64615872AT[16], NC_000013.10:g.64615872AT[17], NC_000013.10:g.64615872AT[19], NC_000013.10:g.64615872AT[20], NC_000013.10:g.64615872AT[21], NC_000013.10:g.64615872AT[22], NC_000013.10:g.64615872AT[23], NC_000013.10:g.64615872AT[24], NC_000013.10:g.64615872AT[25], NC_000013.10:g.64615872AT[26], NC_000013.10:g.64615872AT[27], NC_000013.10:g.64615872AT[28], NC_000013.10:g.64615872AT[29]
14.
rs1491033137 has merged into rs371450858 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA,CACACACA
[Show Flanks]
- Chromosome:
- 13:64068772
(GRCh38)
13:64642905
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64068758:ACACACACACACACACA:ACACACACACACA,NC_000013.11:64068758:ACACACACACACACACA:ACACACACACACACA,NC_000013.11:64068758:ACACACACACACACACA:ACACACACACACACACACA,NC_000013.11:64068758:ACACACACACACACACA:ACACACACACACACACACACA
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
AC=0.00018/3
(TOMMO)
AC=0.001/1
(GoNL)
AC=0.01078/54
(1000Genomes)
- HGVS:
15.
rs1491029793 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 13:64068776
(GRCh38)
13:64642909
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64068774:ATA:A
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1491014373 has merged into rs3039036 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 13:63996976
(GRCh38)
13:64571109
(GRCh37)
- Canonical SPDI:
- NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:63996961:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000013.11:g.63996962GT[7], NC_000013.11:g.63996962GT[8], NC_000013.11:g.63996962GT[9], NC_000013.11:g.63996962GT[10], NC_000013.11:g.63996962GT[11], NC_000013.11:g.63996962GT[12], NC_000013.11:g.63996962GT[13], NC_000013.11:g.63996962GT[14], NC_000013.11:g.63996962GT[16], NC_000013.11:g.63996962GT[17], NC_000013.11:g.63996962GT[18], NC_000013.11:g.63996962GT[19], NC_000013.11:g.63996962GT[20], NC_000013.11:g.63996962GT[21], NC_000013.11:g.63996962GT[22], NC_000013.11:g.63996962GT[23], NC_000013.11:g.63996962GT[24], NC_000013.10:g.64571095GT[7], NC_000013.10:g.64571095GT[8], NC_000013.10:g.64571095GT[9], NC_000013.10:g.64571095GT[10], NC_000013.10:g.64571095GT[11], NC_000013.10:g.64571095GT[12], NC_000013.10:g.64571095GT[13], NC_000013.10:g.64571095GT[14], NC_000013.10:g.64571095GT[16], NC_000013.10:g.64571095GT[17], NC_000013.10:g.64571095GT[18], NC_000013.10:g.64571095GT[19], NC_000013.10:g.64571095GT[20], NC_000013.10:g.64571095GT[21], NC_000013.10:g.64571095GT[22], NC_000013.10:g.64571095GT[23], NC_000013.10:g.64571095GT[24]
17.
rs1491003237 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTCTTGACAGGCACGTGAAC
[Show Flanks]
- Chromosome:
- 13:64029502
(GRCh38)
13:64603636
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64029502:TGAACCTCTTGACAGGCACGTGAAC:TGAACCTCTTGACAGGCACGTGAACCTCTTGACAGGCACGTGAAC
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGAACCTCTTGACAGGCACGTGAACCTCTTGACAGGCACGTGAAC=0./0
(
ALFA)
- HGVS:
18.
rs1490995845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:64046015
(GRCh38)
13:64620148
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64046014:T:C
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490975430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 13:63996871
(GRCh38)
13:64571004
(GRCh37)
- Canonical SPDI:
- NC_000013.11:63996870:G:A,NC_000013.11:63996870:G:C,NC_000013.11:63996870:G:T
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1490956319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:64031909
(GRCh38)
13:64606042
(GRCh37)
- Canonical SPDI:
- NC_000013.11:64031908:C:A
- Gene:
- LINC00355 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: