Links from Gene
Items: 1 to 20 of 10415
1.
rs1491542967 has merged into rs3839993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 13:110881535
(GRCh38)
13:111533882
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110881528:TTTTTTTT:TTTTTT,NC_000013.11:110881528:TTTTTTTT:TTTTTTT,NC_000013.11:110881528:TTTTTTTT:TTTTTTTTT,NC_000013.11:110881528:TTTTTTTT:TTTTTTTTTT
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.1614/664
(1000Genomes)
- HGVS:
2.
rs1491482549 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CGGTTTGT
[Show Flanks]
- Chromosome:
- 13:110885759
(GRCh38)
13:111538107
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110885759::CGGTTTGT
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
CGGTTTGT=0.00037/28
(GnomAD)
- HGVS:
3.
rs1491470240 has merged into rs10656736 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:110902060
(GRCh38)
13:111554407
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110902049:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.110902060_110902071del, NC_000013.11:g.110902061_110902071del, NC_000013.11:g.110902062_110902071del, NC_000013.11:g.110902063_110902071del, NC_000013.11:g.110902064_110902071del, NC_000013.11:g.110902065_110902071del, NC_000013.11:g.110902066_110902071del, NC_000013.11:g.110902067_110902071del, NC_000013.11:g.110902068_110902071del, NC_000013.11:g.110902069_110902071del, NC_000013.11:g.110902070_110902071del, NC_000013.11:g.110902071del, NC_000013.11:g.110902071dup, NC_000013.11:g.110902070_110902071dup, NC_000013.11:g.110902069_110902071dup, NC_000013.11:g.110902068_110902071dup, NC_000013.11:g.110902067_110902071dup, NC_000013.11:g.110902066_110902071dup, NC_000013.11:g.110902065_110902071dup, NC_000013.11:g.110902071_110902072insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110902071_110902072insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110902071_110902072insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111554407_111554418del, NC_000013.10:g.111554408_111554418del, NC_000013.10:g.111554409_111554418del, NC_000013.10:g.111554410_111554418del, NC_000013.10:g.111554411_111554418del, NC_000013.10:g.111554412_111554418del, NC_000013.10:g.111554413_111554418del, NC_000013.10:g.111554414_111554418del, NC_000013.10:g.111554415_111554418del, NC_000013.10:g.111554416_111554418del, NC_000013.10:g.111554417_111554418del, NC_000013.10:g.111554418del, NC_000013.10:g.111554418dup, NC_000013.10:g.111554417_111554418dup, NC_000013.10:g.111554416_111554418dup, NC_000013.10:g.111554415_111554418dup, NC_000013.10:g.111554414_111554418dup, NC_000013.10:g.111554413_111554418dup, NC_000013.10:g.111554412_111554418dup, NC_000013.10:g.111554418_111554419insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111554418_111554419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111554418_111554419insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491454717 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 13:110892675
(GRCh38)
13:111545023
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110892675::A,NC_000013.11:110892675::G
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00006/1
(GnomAD)
G=0.00011/2
(TOMMO)
- HGVS:
5.
rs1491407035 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 13:110904619
(GRCh38)
13:111556966
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110904618:TA:
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000142/2
(
ALFA)
-=0.000208/55
(TOPMED)
-=0.000271/38
(GnomAD)
- HGVS:
7.
rs1491328462 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 13:110885554
(GRCh38)
13:111537902
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110885554::T
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491276429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 13:110902050
(GRCh38)
13:111554398
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110902050:A:AGA
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGA=0./0
(
ALFA)
AG=0.00132/6
(GnomAD)
- HGVS:
9.
rs1491254368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAAAAA
[Show Flanks]
- Chromosome:
- 13:110892417
(GRCh38)
13:111544765
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110892417:AAAAAA:AAAAAAGAAAAAA
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAGAAAAAA=0.00008/1
(
ALFA)
- HGVS:
10.
rs1491246003 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 13:110880213
(GRCh38)
13:111532561
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110880213:C:CC
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
11.
rs1491242704 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:110894403
(GRCh38)
13:111546750
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110894402:CA:
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0279/331
(
ALFA)
-=0.00051/14
(TOMMO)
-=0.01517/154
(GnomAD)
- HGVS:
12.
rs1491163020 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:110880214
(GRCh38)
13:111532561
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110880212:TCT:T
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1491135218 has merged into rs71127979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:110892427
(GRCh38)
13:111544774
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:110892416:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0./0
(GENOME_DK)
- HGVS:
NC_000013.11:g.110892427_110892436del, NC_000013.11:g.110892428_110892436del, NC_000013.11:g.110892429_110892436del, NC_000013.11:g.110892430_110892436del, NC_000013.11:g.110892431_110892436del, NC_000013.11:g.110892432_110892436del, NC_000013.11:g.110892433_110892436del, NC_000013.11:g.110892434_110892436del, NC_000013.11:g.110892435_110892436del, NC_000013.11:g.110892436del, NC_000013.11:g.110892436dup, NC_000013.11:g.110892435_110892436dup, NC_000013.11:g.110892434_110892436dup, NC_000013.11:g.110892433_110892436dup, NC_000013.11:g.110892432_110892436dup, NC_000013.11:g.110892431_110892436dup, NC_000013.11:g.110892430_110892436dup, NC_000013.11:g.110892429_110892436dup, NC_000013.11:g.110892428_110892436dup, NC_000013.11:g.110892427_110892436dup, NC_000013.11:g.110892426_110892436dup, NC_000013.11:g.110892425_110892436dup, NC_000013.11:g.110892424_110892436dup, NC_000013.11:g.110892423_110892436dup, NC_000013.11:g.110892422_110892436dup, NC_000013.11:g.110892421_110892436dup, NC_000013.11:g.110892420_110892436dup, NC_000013.11:g.110892419_110892436dup, NC_000013.11:g.110892418_110892436dup, NC_000013.11:g.110892417_110892436dup, NC_000013.11:g.110892436_110892437insAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110892436_110892437insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110892436_110892437insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110892436_110892437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110892436_110892437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110892436_110892437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110892436_110892437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.110892417_110892436A[49]GA[2]A[29], NC_000013.11:g.110892417_110892436A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000013.11:g.110892417_110892436A[20]GAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.111544774_111544783del, NC_000013.10:g.111544775_111544783del, NC_000013.10:g.111544776_111544783del, NC_000013.10:g.111544777_111544783del, NC_000013.10:g.111544778_111544783del, NC_000013.10:g.111544779_111544783del, NC_000013.10:g.111544780_111544783del, NC_000013.10:g.111544781_111544783del, NC_000013.10:g.111544782_111544783del, NC_000013.10:g.111544783del, NC_000013.10:g.111544783dup, NC_000013.10:g.111544782_111544783dup, NC_000013.10:g.111544781_111544783dup, NC_000013.10:g.111544780_111544783dup, NC_000013.10:g.111544779_111544783dup, NC_000013.10:g.111544778_111544783dup, NC_000013.10:g.111544777_111544783dup, NC_000013.10:g.111544776_111544783dup, NC_000013.10:g.111544775_111544783dup, NC_000013.10:g.111544774_111544783dup, NC_000013.10:g.111544773_111544783dup, NC_000013.10:g.111544772_111544783dup, NC_000013.10:g.111544771_111544783dup, NC_000013.10:g.111544770_111544783dup, NC_000013.10:g.111544769_111544783dup, NC_000013.10:g.111544768_111544783dup, NC_000013.10:g.111544767_111544783dup, NC_000013.10:g.111544766_111544783dup, NC_000013.10:g.111544765_111544783dup, NC_000013.10:g.111544764_111544783dup, NC_000013.10:g.111544783_111544784insAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111544783_111544784insAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111544783_111544784insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111544783_111544784insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111544783_111544784insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111544783_111544784insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111544783_111544784insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.111544764_111544783A[49]GA[2]A[29], NC_000013.10:g.111544764_111544783A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000013.10:g.111544764_111544783A[20]GAAAAAAAAAAAAAAAAAAAAAAAA[1]
14.
rs1491132325 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 13:110892436
(GRCh38)
13:111544783
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110892435:AT:
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000051/7
(GnomAD)
-=0.00029/5
(TOMMO)
- HGVS:
15.
rs1491069374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:110894406
(GRCh38)
13:111546754
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110894406:AAAAAAAAAA:AAAAAAAAAACAAAAAAAAAA
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAACAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAC=0.000004/1
(TOPMED)
AAAAAAAAAAC=0.000017/1
(GnomAD)
- HGVS:
16.
rs1491062571 has merged into rs35945478 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:110897307
(GRCh38)
13:111549654
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:110897294:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3323/1664
(1000Genomes)
- HGVS:
NC_000013.11:g.110897307_110897312del, NC_000013.11:g.110897308_110897312del, NC_000013.11:g.110897309_110897312del, NC_000013.11:g.110897310_110897312del, NC_000013.11:g.110897311_110897312del, NC_000013.11:g.110897312del, NC_000013.11:g.110897312dup, NC_000013.11:g.110897311_110897312dup, NC_000013.11:g.110897310_110897312dup, NC_000013.11:g.110897309_110897312dup, NC_000013.11:g.110897303_110897312dup, NC_000013.10:g.111549654_111549659del, NC_000013.10:g.111549655_111549659del, NC_000013.10:g.111549656_111549659del, NC_000013.10:g.111549657_111549659del, NC_000013.10:g.111549658_111549659del, NC_000013.10:g.111549659del, NC_000013.10:g.111549659dup, NC_000013.10:g.111549658_111549659dup, NC_000013.10:g.111549657_111549659dup, NC_000013.10:g.111549656_111549659dup, NC_000013.10:g.111549650_111549659dup
17.
rs1491024636 has merged into rs35905211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 13:110896994
(GRCh38)
13:111549341
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110896987:AAAAAAAA:AAAAAA,NC_000013.11:110896987:AAAAAAAA:AAAAAAA,NC_000013.11:110896987:AAAAAAAA:AAAAAAAAA,NC_000013.11:110896987:AAAAAAAA:AAAAAAAAAA
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
A=0.123362/226
(Korea1K)
A=0.189815/41
(Vietnamese)
A=0.218381/3660
(TOMMO)
A=0.298667/1456
(1000Genomes)
A=0.322222/85289
(TOPMED)
A=0.375/15
(GENOME_DK)
A=0.388889/1442
(TWINSUK)
A=0.421121/1623
(ALSPAC)
A=0.421652/1889
(Estonian)
A=0.423333/254
(NorthernSweden)
A=0.423848/423
(GoNL)
- HGVS:
18.
rs1490946987 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:110883845
(GRCh38)
13:111536192
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110883844:G:C
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1490871249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:110895171
(GRCh38)
13:111547518
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110895170:G:A
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490854785 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:110906077
(GRCh38)
13:111558424
(GRCh37)
- Canonical SPDI:
- NC_000013.11:110906076:G:T
- Gene:
- ANKRD10 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,missense_variant
- HGVS:
NC_000013.11:g.110906077G>T, NC_000013.10:g.111558424G>T, NM_017664.4:c.411C>A, NM_017664.3:c.411C>A, NM_017664.2:c.411C>A, NR_104586.3:n.546C>A, NR_104586.2:n.546C>A, NR_104586.1:n.584C>A, NM_001286721.3:c.411C>A, NM_001286721.2:c.411C>A, NM_001286721.1:c.411C>A, XM_024449380.2:c.411C>A, XM_024449380.1:c.411C>A, NR_104587.2:n.546C>A, NR_104587.1:n.584C>A, XM_024449382.2:c.411C>A, XM_024449382.1:c.411C>A, XM_024449383.2:c.411C>A, XM_024449383.1:c.411C>A, XM_024449381.2:c.411C>A, XM_024449381.1:c.411C>A, XR_007063690.1:n.546C>A, NP_060134.2:p.Ser137Arg, NP_001273650.1:p.Ser137Arg, XP_024305148.1:p.Ser137Arg, XP_024305150.1:p.Ser137Arg, XP_024305151.1:p.Ser137Arg, XP_024305149.1:p.Ser137Arg