Links from Nucleotide
Items: 1 to 20 of 9031
1.
rs1491500924 has merged into rs11296499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:125827980
(GRCh38)
10:127516549
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:125827967:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- BCCIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000010.11:g.125827980_125827992del, NC_000010.11:g.125827981_125827992del, NC_000010.11:g.125827982_125827992del, NC_000010.11:g.125827983_125827992del, NC_000010.11:g.125827984_125827992del, NC_000010.11:g.125827985_125827992del, NC_000010.11:g.125827986_125827992del, NC_000010.11:g.125827987_125827992del, NC_000010.11:g.125827988_125827992del, NC_000010.11:g.125827989_125827992del, NC_000010.11:g.125827990_125827992del, NC_000010.11:g.125827991_125827992del, NC_000010.11:g.125827992del, NC_000010.11:g.125827992dup, NC_000010.11:g.125827991_125827992dup, NC_000010.11:g.125827990_125827992dup, NC_000010.11:g.125827989_125827992dup, NC_000010.11:g.125827988_125827992dup, NC_000010.11:g.125827969_125827992dup, NC_000010.11:g.125827968_125827992dup, NC_000010.11:g.125827992_125827993insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.125827992_125827993insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.127516549_127516561del, NC_000010.10:g.127516550_127516561del, NC_000010.10:g.127516551_127516561del, NC_000010.10:g.127516552_127516561del, NC_000010.10:g.127516553_127516561del, NC_000010.10:g.127516554_127516561del, NC_000010.10:g.127516555_127516561del, NC_000010.10:g.127516556_127516561del, NC_000010.10:g.127516557_127516561del, NC_000010.10:g.127516558_127516561del, NC_000010.10:g.127516559_127516561del, NC_000010.10:g.127516560_127516561del, NC_000010.10:g.127516561del, NC_000010.10:g.127516561dup, NC_000010.10:g.127516560_127516561dup, NC_000010.10:g.127516559_127516561dup, NC_000010.10:g.127516558_127516561dup, NC_000010.10:g.127516557_127516561dup, NC_000010.10:g.127516538_127516561dup, NC_000010.10:g.127516537_127516561dup, NC_000010.10:g.127516561_127516562insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.127516561_127516562insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011557.2:g.289_301del, NG_011557.2:g.290_301del, NG_011557.2:g.291_301del, NG_011557.2:g.292_301del, NG_011557.2:g.293_301del, NG_011557.2:g.294_301del, NG_011557.2:g.295_301del, NG_011557.2:g.296_301del, NG_011557.2:g.297_301del, NG_011557.2:g.298_301del, NG_011557.2:g.299_301del, NG_011557.2:g.300_301del, NG_011557.2:g.301del, NG_011557.2:g.301dup, NG_011557.2:g.300_301dup, NG_011557.2:g.299_301dup, NG_011557.2:g.298_301dup, NG_011557.2:g.297_301dup, NG_011557.2:g.278_301dup, NG_011557.2:g.277_301dup, NG_011557.2:g.301_302insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011557.2:g.301_302insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029095.1:g.9446_9458del, NG_029095.1:g.9447_9458del, NG_029095.1:g.9448_9458del, NG_029095.1:g.9449_9458del, NG_029095.1:g.9450_9458del, NG_029095.1:g.9451_9458del, NG_029095.1:g.9452_9458del, NG_029095.1:g.9453_9458del, NG_029095.1:g.9454_9458del, NG_029095.1:g.9455_9458del, NG_029095.1:g.9456_9458del, NG_029095.1:g.9457_9458del, NG_029095.1:g.9458del, NG_029095.1:g.9458dup, NG_029095.1:g.9457_9458dup, NG_029095.1:g.9456_9458dup, NG_029095.1:g.9455_9458dup, NG_029095.1:g.9454_9458dup, NG_029095.1:g.9435_9458dup, NG_029095.1:g.9434_9458dup, NG_029095.1:g.9458_9459insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029095.1:g.9458_9459insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
2.
rs1491485283 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 10:125827121
(GRCh38)
10:127515690
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125827118:AGAG:AG
- Gene:
- BCCIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAG=0./0
(
ALFA)
-=0./0
(TWINSUK)
-=0.000171/24
(GnomAD)
-=0.000185/49
(TOPMED)
-=0.000259/1
(ALSPAC)
-=0.00046/8
(TOMMO)
-=0.001718/9
(1000Genomes)
-=0.002729/5
(Korea1K)
- HGVS:
4.
rs1491356130 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 10:125841944
(GRCh38)
10:127530513
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125841943:GA:
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.00001/2
(GnomAD_exomes)
-=0.000019/2
(ExAC)
- HGVS:
5.
rs1491273842 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 10:125851920
(GRCh38)
10:127540489
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125851919:CA:
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00405/15
(TWINSUK)
-=0.00467/18
(ALSPAC)
- HGVS:
6.
rs1491091393 has merged into rs34263964 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT,GTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 10:125841199
(GRCh38)
10:127529768
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000010.11:125841187:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTGTG=0.000008/2
(TOPMED)
TG=0.333036/1492
(Estonian)
TG=0.335463/1680
(1000Genomes)
TG=0.349699/349
(GoNL)
TG=0.35/14
(GENOME_DK)
TG=0.38/228
(NorthernSweden)
TG=0.462878/7758
(TOMMO)
TG=0.468341/858
(Korea1K)
TG=0.485849/103
(Vietnamese)
- HGVS:
NC_000010.11:g.125841189GT[5], NC_000010.11:g.125841189GT[7], NC_000010.11:g.125841189GT[8], NC_000010.11:g.125841189GT[11], NC_000010.10:g.127529758GT[5], NC_000010.10:g.127529758GT[7], NC_000010.10:g.127529758GT[8], NC_000010.10:g.127529758GT[11], NG_029095.1:g.22655GT[5], NG_029095.1:g.22655GT[7], NG_029095.1:g.22655GT[8], NG_029095.1:g.22655GT[11]
7.
rs1491033247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 10:125835572
(GRCh38)
10:127524142
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125835572:T:TT
- Gene:
- BCCIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.00005/2
(GnomAD)
- HGVS:
8.
rs1490884656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:125839200
(GRCh38)
10:127527769
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125839199:A:G
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490648432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:125855013
(GRCh38)
10:127543582
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125855012:C:G
- Gene:
- DHX32 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
10.
rs1490583921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:125831629
(GRCh38)
10:127520198
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125831628:T:C
- Gene:
- BCCIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490516777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:125844050
(GRCh38)
10:127532619
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125844049:C:T
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000198/3
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.00067/3
(Estonian)
- HGVS:
12.
rs1490395925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:125838684
(GRCh38)
10:127527253
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125838683:T:C
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490380339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:125837569
(GRCh38)
10:127526138
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125837568:G:A
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490297832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 10:125855675
(GRCh38)
10:127544244
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125855674:C:A
- Gene:
- DHX32 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
16.
rs1490191056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:125846319
(GRCh38)
10:127534888
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125846318:G:T
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490064942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:125839739
(GRCh38)
10:127528308
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125839738:T:C
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS:
19.
rs1489867130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:125847744
(GRCh38)
10:127536313
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125847743:T:A
- Gene:
- DHX32 (Varview), BCCIP (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489816267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:125818657
(GRCh38)
10:127507226
(GRCh37)
- Canonical SPDI:
- NC_000010.11:125818656:T:C
- Gene:
- UROS (Varview), MIR4484 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: