Links from Nucleotide
Items: 1 to 20 of 121213
2.
rs1491573582 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 4:112921379
(GRCh38)
4:113842535
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112921378:GT:
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000033/4
(GnomAD)
- HGVS:
3.
rs1491572476 has merged into rs34031811 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 4:113349296
(GRCh38)
4:114270452
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113349293:ATAT:AT,NC_000004.12:113349293:ATAT:ATATAT
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATAT=0.065832/726
(
ALFA)
-=0.075472/16
(Vietnamese)
-=0.124463/2086
(TOMMO)
-=0.141283/141
(GoNL)
-=0.148936/574
(ALSPAC)
-=0.151747/278
(Korea1K)
-=0.156667/94
(NorthernSweden)
-=0.160464/595
(TWINSUK)
-=0.164732/738
(Estonian)
-=0.2/8
(GENOME_DK)
AT=0.311102/1558
(1000Genomes)
-=0.316476/83768
(TOPMED)
- HGVS:
4.
rs1491563645 has merged into rs141841376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 4:112861857
(GRCh38)
4:113783013
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
AG=0.012241/3240
(TOPMED)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000004.12:g.112861841GA[8], NC_000004.12:g.112861841GA[9], NC_000004.12:g.112861841GA[10], NC_000004.12:g.112861841GA[11], NC_000004.12:g.112861841GA[12], NC_000004.12:g.112861841GA[13], NC_000004.12:g.112861841GA[15], NC_000004.12:g.112861841GA[16], NC_000004.12:g.112861841GA[17], NC_000004.12:g.112861841GA[18], NC_000004.12:g.112861841GA[19], NC_000004.12:g.112861841GA[20], NC_000004.12:g.112861841GA[21], NC_000004.12:g.112861841GA[22], NC_000004.12:g.112861841GA[23], NC_000004.12:g.112861841GA[24], NC_000004.12:g.112861841GA[25], NC_000004.12:g.112861841GA[26], NC_000004.12:g.112861841GA[27], NC_000004.12:g.112861841GA[28], NC_000004.12:g.112861841GA[29], NC_000004.12:g.112861841GA[33], NC_000004.11:g.113782997GA[8], NC_000004.11:g.113782997GA[9], NC_000004.11:g.113782997GA[10], NC_000004.11:g.113782997GA[11], NC_000004.11:g.113782997GA[12], NC_000004.11:g.113782997GA[13], NC_000004.11:g.113782997GA[15], NC_000004.11:g.113782997GA[16], NC_000004.11:g.113782997GA[17], NC_000004.11:g.113782997GA[18], NC_000004.11:g.113782997GA[19], NC_000004.11:g.113782997GA[20], NC_000004.11:g.113782997GA[21], NC_000004.11:g.113782997GA[22], NC_000004.11:g.113782997GA[23], NC_000004.11:g.113782997GA[24], NC_000004.11:g.113782997GA[25], NC_000004.11:g.113782997GA[26], NC_000004.11:g.113782997GA[27], NC_000004.11:g.113782997GA[28], NC_000004.11:g.113782997GA[29], NC_000004.11:g.113782997GA[33], NG_009006.2:g.48759GA[8], NG_009006.2:g.48759GA[9], NG_009006.2:g.48759GA[10], NG_009006.2:g.48759GA[11], NG_009006.2:g.48759GA[12], NG_009006.2:g.48759GA[13], NG_009006.2:g.48759GA[15], NG_009006.2:g.48759GA[16], NG_009006.2:g.48759GA[17], NG_009006.2:g.48759GA[18], NG_009006.2:g.48759GA[19], NG_009006.2:g.48759GA[20], NG_009006.2:g.48759GA[21], NG_009006.2:g.48759GA[22], NG_009006.2:g.48759GA[23], NG_009006.2:g.48759GA[24], NG_009006.2:g.48759GA[25], NG_009006.2:g.48759GA[26], NG_009006.2:g.48759GA[27], NG_009006.2:g.48759GA[28], NG_009006.2:g.48759GA[29], NG_009006.2:g.48759GA[33]
5.
rs1491560050 has merged into rs58946073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:113060688
(GRCh38)
4:113981844
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:113060679:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
TT=0.108/541
(1000Genomes)
- HGVS:
NC_000004.12:g.113060688_113060701del, NC_000004.12:g.113060689_113060701del, NC_000004.12:g.113060690_113060701del, NC_000004.12:g.113060691_113060701del, NC_000004.12:g.113060692_113060701del, NC_000004.12:g.113060693_113060701del, NC_000004.12:g.113060694_113060701del, NC_000004.12:g.113060695_113060701del, NC_000004.12:g.113060697_113060701del, NC_000004.12:g.113060698_113060701del, NC_000004.12:g.113060699_113060701del, NC_000004.12:g.113060700_113060701del, NC_000004.12:g.113060701del, NC_000004.12:g.113060701dup, NC_000004.12:g.113060700_113060701dup, NC_000004.12:g.113060699_113060701dup, NC_000004.12:g.113060697_113060701dup, NC_000004.11:g.113981844_113981857del, NC_000004.11:g.113981845_113981857del, NC_000004.11:g.113981846_113981857del, NC_000004.11:g.113981847_113981857del, NC_000004.11:g.113981848_113981857del, NC_000004.11:g.113981849_113981857del, NC_000004.11:g.113981850_113981857del, NC_000004.11:g.113981851_113981857del, NC_000004.11:g.113981853_113981857del, NC_000004.11:g.113981854_113981857del, NC_000004.11:g.113981855_113981857del, NC_000004.11:g.113981856_113981857del, NC_000004.11:g.113981857del, NC_000004.11:g.113981857dup, NC_000004.11:g.113981856_113981857dup, NC_000004.11:g.113981855_113981857dup, NC_000004.11:g.113981853_113981857dup, NG_009006.2:g.247606_247619del, NG_009006.2:g.247607_247619del, NG_009006.2:g.247608_247619del, NG_009006.2:g.247609_247619del, NG_009006.2:g.247610_247619del, NG_009006.2:g.247611_247619del, NG_009006.2:g.247612_247619del, NG_009006.2:g.247613_247619del, NG_009006.2:g.247615_247619del, NG_009006.2:g.247616_247619del, NG_009006.2:g.247617_247619del, NG_009006.2:g.247618_247619del, NG_009006.2:g.247619del, NG_009006.2:g.247619dup, NG_009006.2:g.247618_247619dup, NG_009006.2:g.247617_247619dup, NG_009006.2:g.247615_247619dup
7.
rs1491529278 has merged into rs11310852 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:113001341
(GRCh38)
4:113922497
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:113001331:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.3682/1844
(1000Genomes)
- HGVS:
NC_000004.12:g.113001341_113001351del, NC_000004.12:g.113001347_113001351del, NC_000004.12:g.113001348_113001351del, NC_000004.12:g.113001349_113001351del, NC_000004.12:g.113001350_113001351del, NC_000004.12:g.113001351del, NC_000004.12:g.113001351dup, NC_000004.12:g.113001350_113001351dup, NC_000004.12:g.113001349_113001351dup, NC_000004.12:g.113001348_113001351dup, NC_000004.12:g.113001347_113001351dup, NC_000004.12:g.113001351_113001352insAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.113001351_113001352insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.113001332_113001351A[28]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.113922497_113922507del, NC_000004.11:g.113922503_113922507del, NC_000004.11:g.113922504_113922507del, NC_000004.11:g.113922505_113922507del, NC_000004.11:g.113922506_113922507del, NC_000004.11:g.113922507del, NC_000004.11:g.113922507dup, NC_000004.11:g.113922506_113922507dup, NC_000004.11:g.113922505_113922507dup, NC_000004.11:g.113922504_113922507dup, NC_000004.11:g.113922503_113922507dup, NC_000004.11:g.113922507_113922508insAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.113922507_113922508insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.113922488_113922507A[28]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_009006.2:g.188259_188269del, NG_009006.2:g.188265_188269del, NG_009006.2:g.188266_188269del, NG_009006.2:g.188267_188269del, NG_009006.2:g.188268_188269del, NG_009006.2:g.188269del, NG_009006.2:g.188269dup, NG_009006.2:g.188268_188269dup, NG_009006.2:g.188267_188269dup, NG_009006.2:g.188266_188269dup, NG_009006.2:g.188265_188269dup, NG_009006.2:g.188269_188270insAAAAAAAAAAAAAAAAAAAAA, NG_009006.2:g.188269_188270insAAAAAAAAAAAAAAAAAAAAAA, NG_009006.2:g.188250_188269A[28]CAAAAAAAAAAAAAAAAAAAAAAAA[1]
8.
rs1491523034 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 4:113196704
(GRCh38)
4:114117861
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113196704:TTTTTTT:TTTTTTTT
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
10.
rs1491517129 has merged into rs150385010 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACAC>-,ACACAC,ACACACACAC,ACACACACACAC
[Show Flanks]
- Chromosome:
- 4:112880056
(GRCh38)
4:113801212
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112880048:CACACACACACACAC:CACACAC,NC_000004.12:112880048:CACACACACACACAC:CACACACACACAC,NC_000004.12:112880048:CACACACACACACAC:CACACACACACACACAC,NC_000004.12:112880048:CACACACACACACAC:CACACACACACACACACAC
- Gene:
- ANK2 (Varview), LOC102723896 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACAC=0./0
(
ALFA)
-=0.0191/35
(Korea1K)
-=0.05192/260
(1000Genomes)
-=0.06333/38
(NorthernSweden)
-=0.1/4
(GENOME_DK)
- HGVS:
NC_000004.12:g.112880050AC[3], NC_000004.12:g.112880050AC[6], NC_000004.12:g.112880050AC[8], NC_000004.12:g.112880050AC[9], NC_000004.11:g.113801206AC[3], NC_000004.11:g.113801206AC[6], NC_000004.11:g.113801206AC[8], NC_000004.11:g.113801206AC[9], NG_009006.2:g.66968AC[3], NG_009006.2:g.66968AC[6], NG_009006.2:g.66968AC[8], NG_009006.2:g.66968AC[9]
11.
rs1491510416 has merged into rs544871774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:112874091
(GRCh38)
4:113795247
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:112874080:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.11681/585
(1000Genomes)
- HGVS:
NC_000004.12:g.112874091_112874099del, NC_000004.12:g.112874094_112874099del, NC_000004.12:g.112874096_112874099del, NC_000004.12:g.112874097_112874099del, NC_000004.12:g.112874098_112874099del, NC_000004.12:g.112874099del, NC_000004.12:g.112874099dup, NC_000004.12:g.112874098_112874099dup, NC_000004.12:g.112874097_112874099dup, NC_000004.12:g.112874096_112874099dup, NC_000004.12:g.112874095_112874099dup, NC_000004.12:g.112874094_112874099dup, NC_000004.12:g.112874091_112874099dup, NC_000004.12:g.112874081_112874099dup, NC_000004.11:g.113795247_113795255del, NC_000004.11:g.113795250_113795255del, NC_000004.11:g.113795252_113795255del, NC_000004.11:g.113795253_113795255del, NC_000004.11:g.113795254_113795255del, NC_000004.11:g.113795255del, NC_000004.11:g.113795255dup, NC_000004.11:g.113795254_113795255dup, NC_000004.11:g.113795253_113795255dup, NC_000004.11:g.113795252_113795255dup, NC_000004.11:g.113795251_113795255dup, NC_000004.11:g.113795250_113795255dup, NC_000004.11:g.113795247_113795255dup, NC_000004.11:g.113795237_113795255dup, NG_009006.2:g.61009_61017del, NG_009006.2:g.61012_61017del, NG_009006.2:g.61014_61017del, NG_009006.2:g.61015_61017del, NG_009006.2:g.61016_61017del, NG_009006.2:g.61017del, NG_009006.2:g.61017dup, NG_009006.2:g.61016_61017dup, NG_009006.2:g.61015_61017dup, NG_009006.2:g.61014_61017dup, NG_009006.2:g.61013_61017dup, NG_009006.2:g.61012_61017dup, NG_009006.2:g.61009_61017dup, NG_009006.2:g.60999_61017dup
12.
rs1491510127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATACATATATAT,ATATACATATATAT,ATATATACATATATAT
[Show Flanks]
- Chromosome:
- 4:113097867
(GRCh38)
4:114019024
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113097867:ATATATAT:ATATATATATACATATATAT,NC_000004.12:113097867:ATATATAT:ATATATATATATACATATATAT,NC_000004.12:113097867:ATATATAT:ATATATATATATATACATATATAT
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATACATATATAT=0./0
(
ALFA)
ATATATATATATAC=0.00142/23
(TOMMO)
ATATATATATATAC=0.01327/85
(1000Genomes)
- HGVS:
13.
rs1491487341 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 4:112986071
(GRCh38)
4:113907227
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112986070:CA:
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/3
(
ALFA)
-=0.00018/17
(GnomAD)
- HGVS:
14.
rs1491477160 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTTGAAATTTAAACAAATACAGCACCTCTC
[Show Flanks]
- Chromosome:
- 4:113064824
(GRCh38)
4:113985981
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113064824::GTTGAAATTTAAACAAATACAGCACCTCTC
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
GTTGAAATTTAAACAAATACAGCACCTCTC=0.0004/2
(TOMMO)
- HGVS:
16.
rs1491458407 has merged into rs200371176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATGTATATATATGT>-,ATATATATGT,ATATATATGTATATATATGTATATATATGT,ATATATATGTATATATATGTATATATATGTATATATATGT
[Show Flanks]
- Chromosome:
- 4:112883872
(GRCh38)
4:113805028
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112883860:TATATATATGTATATATATGTATATATATGT:TATATATATGT,NC_000004.12:112883860:TATATATATGTATATATATGTATATATATGT:TATATATATGTATATATATGT,NC_000004.12:112883860:TATATATATGTATATATATGTATATATATGT:TATATATATGTATATATATGTATATATATGTATATATATGT,NC_000004.12:112883860:TATATATATGTATATATATGTATATATATGT:TATATATATGTATATATATGTATATATATGTATATATATGTATATATATGT
- Gene:
- ANK2 (Varview), LOC102723896 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATGTATATATATGTATATATATGTATATATATGT=0./0
(
ALFA)
-=0.000495/8
(TOMMO)
-=0.000552/1
(Korea1K)
-=0.02496/125
(1000Genomes)
-=0.025286/6693
(TOPMED)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000004.12:g.112883862ATATATATGT[1], NC_000004.12:g.112883862ATATATATGT[2], NC_000004.12:g.112883862ATATATATGT[4], NC_000004.12:g.112883862ATATATATGT[5], NC_000004.11:g.113805018ATATATATGT[1], NC_000004.11:g.113805018ATATATATGT[2], NC_000004.11:g.113805018ATATATATGT[4], NC_000004.11:g.113805018ATATATATGT[5], NG_009006.2:g.70780ATATATATGT[1], NG_009006.2:g.70780ATATATATGT[2], NG_009006.2:g.70780ATATATATGT[4], NG_009006.2:g.70780ATATATATGT[5]
17.
rs1491456467 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGAGAGAGAGAGA,AGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 4:112861839
(GRCh38)
4:113782996
(GRCh37)
- Canonical SPDI:
- NC_000004.12:112861839:A:AAGAGAGAGAGAGA,NC_000004.12:112861839:A:AAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:112861839:A:ACAGAGAGAGAGAGAGAGAGA
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAGAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
- HGVS:
18.
rs1491446123 has merged into rs112753371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC
[Show Flanks]
- Chromosome:
- 4:113207125
(GRCh38)
4:114128281
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113207111:CACACACACACACACAC:CACACACACACAC,NC_000004.12:113207111:CACACACACACACACAC:CACACACACACACAC,NC_000004.12:113207111:CACACACACACACACAC:CACACACACACACACACAC,NC_000004.12:113207111:CACACACACACACACAC:CACACACACACACACACACAC,NC_000004.12:113207111:CACACACACACACACAC:CACACACACACACACACACACAC,NC_000004.12:113207111:CACACACACACACACAC:CACACACACACACACACACACACACAC
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000004.12:g.113207113AC[6], NC_000004.12:g.113207113AC[7], NC_000004.12:g.113207113AC[9], NC_000004.12:g.113207113AC[10], NC_000004.12:g.113207113AC[11], NC_000004.12:g.113207113AC[13], NC_000004.11:g.114128269AC[6], NC_000004.11:g.114128269AC[7], NC_000004.11:g.114128269AC[9], NC_000004.11:g.114128269AC[10], NC_000004.11:g.114128269AC[11], NC_000004.11:g.114128269AC[13], NG_009006.2:g.394031AC[6], NG_009006.2:g.394031AC[7], NG_009006.2:g.394031AC[9], NG_009006.2:g.394031AC[10], NG_009006.2:g.394031AC[11], NG_009006.2:g.394031AC[13]
20.
rs1491439576 has merged into rs34201791 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 4:113365217
(GRCh38)
4:114286373
(GRCh37)
- Canonical SPDI:
- NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:113365201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- ANK2 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign-likely-benign,likely-benign,benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.17021/656
(ALSPAC)
TG=0.23123/1158
(1000Genomes)
- HGVS:
NC_000004.12:g.113365203GT[7], NC_000004.12:g.113365203GT[8], NC_000004.12:g.113365203GT[9], NC_000004.12:g.113365203GT[10], NC_000004.12:g.113365203GT[11], NC_000004.12:g.113365203GT[12], NC_000004.12:g.113365203GT[13], NC_000004.12:g.113365203GT[14], NC_000004.12:g.113365203GT[16], NC_000004.12:g.113365203GT[17], NC_000004.12:g.113365203GT[18], NC_000004.12:g.113365203GT[19], NC_000004.12:g.113365203GT[20], NC_000004.12:g.113365203GT[21], NC_000004.12:g.113365203GT[22], NC_000004.11:g.114286359GT[7], NC_000004.11:g.114286359GT[8], NC_000004.11:g.114286359GT[9], NC_000004.11:g.114286359GT[10], NC_000004.11:g.114286359GT[11], NC_000004.11:g.114286359GT[12], NC_000004.11:g.114286359GT[13], NC_000004.11:g.114286359GT[14], NC_000004.11:g.114286359GT[16], NC_000004.11:g.114286359GT[17], NC_000004.11:g.114286359GT[18], NC_000004.11:g.114286359GT[19], NC_000004.11:g.114286359GT[20], NC_000004.11:g.114286359GT[21], NC_000004.11:g.114286359GT[22], NG_009006.2:g.552121GT[7], NG_009006.2:g.552121GT[8], NG_009006.2:g.552121GT[9], NG_009006.2:g.552121GT[10], NG_009006.2:g.552121GT[11], NG_009006.2:g.552121GT[12], NG_009006.2:g.552121GT[13], NG_009006.2:g.552121GT[14], NG_009006.2:g.552121GT[16], NG_009006.2:g.552121GT[17], NG_009006.2:g.552121GT[18], NG_009006.2:g.552121GT[19], NG_009006.2:g.552121GT[20], NG_009006.2:g.552121GT[21], NG_009006.2:g.552121GT[22]