Links from Nucleotide
Items: 1 to 20 of 6892
1.
rs1491546295 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTGT
[Show Flanks]
- Chromosome:
- 2:72151071
(GRCh38)
2:72378201
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72151071::CTGT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTGT=0./0
(
ALFA)
CTGT=0.000014/2
(GnomAD)
CTGT=0.000015/4
(TOPMED)
- HGVS:
2.
rs1491502486 has merged into rs60831202 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 2:72152024
(GRCh38)
2:72379153
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.72152006CA[9], NC_000002.12:g.72152006CA[10], NC_000002.12:g.72152006CA[11], NC_000002.12:g.72152006CA[12], NC_000002.12:g.72152006CA[13], NC_000002.12:g.72152006CA[14], NC_000002.12:g.72152006CA[15], NC_000002.12:g.72152006CA[16], NC_000002.12:g.72152006CA[17], NC_000002.12:g.72152006CA[18], NC_000002.12:g.72152006CA[19], NC_000002.12:g.72152006CA[20], NC_000002.12:g.72152006CA[21], NC_000002.12:g.72152006CA[22], NC_000002.12:g.72152006CA[24], NC_000002.12:g.72152006CA[25], NC_000002.12:g.72152006CA[26], NC_000002.12:g.72152006CA[27], NC_000002.12:g.72152006CA[28], NC_000002.12:g.72152006CA[29], NC_000002.11:g.72379135CA[9], NC_000002.11:g.72379135CA[10], NC_000002.11:g.72379135CA[11], NC_000002.11:g.72379135CA[12], NC_000002.11:g.72379135CA[13], NC_000002.11:g.72379135CA[14], NC_000002.11:g.72379135CA[15], NC_000002.11:g.72379135CA[16], NC_000002.11:g.72379135CA[17], NC_000002.11:g.72379135CA[18], NC_000002.11:g.72379135CA[19], NC_000002.11:g.72379135CA[20], NC_000002.11:g.72379135CA[21], NC_000002.11:g.72379135CA[22], NC_000002.11:g.72379135CA[24], NC_000002.11:g.72379135CA[25], NC_000002.11:g.72379135CA[26], NC_000002.11:g.72379135CA[27], NC_000002.11:g.72379135CA[28], NC_000002.11:g.72379135CA[29], NG_007957.1:g.784TG[9], NG_007957.1:g.784TG[10], NG_007957.1:g.784TG[11], NG_007957.1:g.784TG[12], NG_007957.1:g.784TG[13], NG_007957.1:g.784TG[14], NG_007957.1:g.784TG[15], NG_007957.1:g.784TG[16], NG_007957.1:g.784TG[17], NG_007957.1:g.784TG[18], NG_007957.1:g.784TG[19], NG_007957.1:g.784TG[20], NG_007957.1:g.784TG[21], NG_007957.1:g.784TG[22], NG_007957.1:g.784TG[24], NG_007957.1:g.784TG[25], NG_007957.1:g.784TG[26], NG_007957.1:g.784TG[27], NG_007957.1:g.784TG[28], NG_007957.1:g.784TG[29]
3.
rs1491449319 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 2:72152005
(GRCh38)
2:72379134
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72152004:CC:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00015/13
(GnomAD)
- HGVS:
4.
rs1491422806 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACAACACAACACACACACAACACACAC
[Show Flanks]
- Chromosome:
- 2:72149253
(GRCh38)
2:72376383
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72149253:ACACACACACAACACACAC:ACACACACACAACACACACACAACACAACACACACACAACACACAC
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACAACACACACACAACACAACACACACACAACACACAC=0.000084/1
(
ALFA)
ACACACACACAACACACACACAACACA=0.000857/120
(GnomAD)
- HGVS:
5.
rs1491197551 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAGA
[Show Flanks]
- Chromosome:
- 2:72152050
(GRCh38)
2:72379180
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72152050:A:ACAGA
- Validated:
- by frequency,by alfa
- MAF:
ACAGA=0./0
(
ALFA)
ACAG=0.000008/1
(GnomAD)
- HGVS:
6.
rs1491150482 has merged into rs1016270719 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA
[Show Flanks]
- Chromosome:
- 2:72149261
(GRCh38)
2:72376390
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72149252:CACACACACACA:CACACACA,NC_000002.12:72149252:CACACACACACA:CACACACACA,NC_000002.12:72149252:CACACACACACA:CACACACACACACA
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACA=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
CA=0.000035/1
(TOMMO)
CA=0.004739/1
(Vietnamese)
- HGVS:
7.
rs1490906017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:72146749
(GRCh38)
2:72373878
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72146748:C:G
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490877854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:72133763
(GRCh38)
2:72360892
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72133762:C:A
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490795658 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:72152358
(GRCh38)
2:72379487
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72152357:A:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
11.
rs1490413782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:72137250
(GRCh38)
2:72364379
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72137249:G:A
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490408430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:72139097
(GRCh38)
2:72366226
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72139096:T:C
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490327158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 2:72139855
(GRCh38)
2:72366984
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72139854:C:A,NC_000002.12:72139854:C:G
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490306394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:72151352
(GRCh38)
2:72378481
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72151351:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490103258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:72135535
(GRCh38)
2:72362664
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72135534:G:A
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS:
18.
rs1490087226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:72146392
(GRCh38)
2:72373521
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72146391:A:T
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490059996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:72133341
(GRCh38)
2:72360470
(GRCh37)
- Canonical SPDI:
- NC_000002.12:72133340:T:C
- Gene:
- CYP26B1 (Varview)
- Functional Consequence:
- 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: