Links from Nucleotide
Items: 1 to 20 of 7577
2.
rs1491259204 has merged into rs1369409047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 14:74248363
(GRCh38)
14:74715066
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74248362:AAAAA:AAAA,NC_000014.9:74248362:AAAAA:AAAAAAAA,NC_000014.9:74248362:AAAAA:AAAAAAAAA,NC_000014.9:74248362:AAAAA:AAAAAAAAAA,NC_000014.9:74248362:AAAAA:AAAAAAAAAAA,NC_000014.9:74248362:AAAAA:AAAAAAAAAAAA
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
AAAA=0.00063/16
(TOMMO)
- HGVS:
NC_000014.9:g.74248367del, NC_000014.9:g.74248365_74248367dup, NC_000014.9:g.74248364_74248367dup, NC_000014.9:g.74248363_74248367dup, NC_000014.9:g.74248367_74248368insAAAAAA, NC_000014.9:g.74248367_74248368insAAAAAAA, NC_000014.8:g.74715070del, NC_000014.8:g.74715068_74715070dup, NC_000014.8:g.74715067_74715070dup, NC_000014.8:g.74715066_74715070dup, NC_000014.8:g.74715070_74715071insAAAAAA, NC_000014.8:g.74715070_74715071insAAAAAAA, NG_013092.1:g.13896del, NG_013092.1:g.13894_13896dup, NG_013092.1:g.13893_13896dup, NG_013092.1:g.13892_13896dup, NG_013092.1:g.13896_13897insAAAAAA, NG_013092.1:g.13896_13897insAAAAAAA
3.
rs1491196982 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAA,AAAACAAAA
[Show Flanks]
- Chromosome:
- 14:74248361
(GRCh38)
14:74715065
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74248361::A,NC_000014.9:74248361::AA,NC_000014.9:74248361::AAA,NC_000014.9:74248361::AAAA,NC_000014.9:74248361::AAAAA,NC_000014.9:74248361::AAAAAA,NC_000014.9:74248361::AAAAAAAAAA,NC_000014.9:74248361::AAAACAAAA
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
AAA=0.000004/1
(TOPMED)
AAAA=0.093894/163
(Korea1K)
AAAA=0.132302/77
(NorthernSweden)
- HGVS:
NC_000014.9:g.74248361_74248362insA, NC_000014.9:g.74248361_74248362insAA, NC_000014.9:g.74248361_74248362insAAA, NC_000014.9:g.74248361_74248362insAAAA, NC_000014.9:g.74248361_74248362insAAAAA, NC_000014.9:g.74248361_74248362insAAAAAA, NC_000014.9:g.74248361_74248362insAAAAAAAAAA, NC_000014.9:g.74248361_74248362insAAAACAAAA, NC_000014.8:g.74715064_74715065insA, NC_000014.8:g.74715064_74715065insAA, NC_000014.8:g.74715064_74715065insAAA, NC_000014.8:g.74715064_74715065insAAAA, NC_000014.8:g.74715064_74715065insAAAAA, NC_000014.8:g.74715064_74715065insAAAAAA, NC_000014.8:g.74715064_74715065insAAAAAAAAAA, NC_000014.8:g.74715064_74715065insAAAACAAAA, NG_013092.1:g.13890_13891insA, NG_013092.1:g.13890_13891insAA, NG_013092.1:g.13890_13891insAAA, NG_013092.1:g.13890_13891insAAAA, NG_013092.1:g.13890_13891insAAAAA, NG_013092.1:g.13890_13891insAAAAAA, NG_013092.1:g.13890_13891insAAAAAAAAAA, NG_013092.1:g.13890_13891insAAAACAAAA
4.
rs1491177834 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 14:74248361
(GRCh38)
14:74715064
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74248360:CC:
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.0137/8
(NorthernSweden)
-=0.0248/390
(TOMMO)
-=0.04801/87
(Korea1K)
- HGVS:
5.
rs1491177197 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:74248352
(GRCh38)
14:74715055
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74248350:ACA:A
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.002907/47
(
ALFA)
-=0.00047/8
(TOMMO)
-=0.006565/12
(Korea1K)
-=0.012495/1606
(GnomAD)
- HGVS:
6.
rs1491143862 has merged into rs147024909 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTTTGTTTTGTTTT>-,GTTTT,GTTTTGTTTT,GTTTTGTTTTGTTTTGTTTT,GTTTTGTTTTGTTTTGTTTTGTTTT,GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT
[Show Flanks]
- Chromosome:
- 14:74241956
(GRCh38)
14:74708659
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74241940:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTT:GTTTTGTTTTGTTTT,NC_000014.9:74241940:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTT:GTTTTGTTTTGTTTTGTTTT,NC_000014.9:74241940:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTT:GTTTTGTTTTGTTTTGTTTTGTTTT,NC_000014.9:74241940:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTT:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT,NC_000014.9:74241940:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTT:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT,NC_000014.9:74241940:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTT:GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT=0./0
(
ALFA)
-=0.020371/5392
(TOPMED)
-=0.028333/17
(NorthernSweden)
-=0.04008/40
(GoNL)
- HGVS:
NC_000014.9:g.74241941GTTTT[3], NC_000014.9:g.74241941GTTTT[4], NC_000014.9:g.74241941GTTTT[5], NC_000014.9:g.74241941GTTTT[7], NC_000014.9:g.74241941GTTTT[8], NC_000014.9:g.74241941GTTTT[10], NC_000014.8:g.74708644GTTTT[3], NC_000014.8:g.74708644GTTTT[4], NC_000014.8:g.74708644GTTTT[5], NC_000014.8:g.74708644GTTTT[7], NC_000014.8:g.74708644GTTTT[8], NC_000014.8:g.74708644GTTTT[10], NG_013092.1:g.7470GTTTT[3], NG_013092.1:g.7470GTTTT[4], NG_013092.1:g.7470GTTTT[5], NG_013092.1:g.7470GTTTT[7], NG_013092.1:g.7470GTTTT[8], NG_013092.1:g.7470GTTTT[10]
7.
rs1491082266 has merged into rs34396021 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:74253059
(GRCh38)
14:74719762
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:74253048:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.4784/2396
(1000Genomes)
- HGVS:
NC_000014.9:g.74253059_74253067del, NC_000014.9:g.74253061_74253067del, NC_000014.9:g.74253063_74253067del, NC_000014.9:g.74253064_74253067del, NC_000014.9:g.74253065_74253067del, NC_000014.9:g.74253066_74253067del, NC_000014.9:g.74253067del, NC_000014.9:g.74253067dup, NC_000014.9:g.74253066_74253067dup, NC_000014.9:g.74253065_74253067dup, NC_000014.9:g.74253064_74253067dup, NC_000014.8:g.74719762_74719770del, NC_000014.8:g.74719764_74719770del, NC_000014.8:g.74719766_74719770del, NC_000014.8:g.74719767_74719770del, NC_000014.8:g.74719768_74719770del, NC_000014.8:g.74719769_74719770del, NC_000014.8:g.74719770del, NC_000014.8:g.74719770dup, NC_000014.8:g.74719769_74719770dup, NC_000014.8:g.74719768_74719770dup, NC_000014.8:g.74719767_74719770dup, NG_013092.1:g.18588_18596del, NG_013092.1:g.18590_18596del, NG_013092.1:g.18592_18596del, NG_013092.1:g.18593_18596del, NG_013092.1:g.18594_18596del, NG_013092.1:g.18595_18596del, NG_013092.1:g.18596del, NG_013092.1:g.18596dup, NG_013092.1:g.18595_18596dup, NG_013092.1:g.18594_18596dup, NG_013092.1:g.18593_18596dup
10.
rs1490869962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:74244264
(GRCh38)
14:74710967
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74244263:G:A
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
11.
rs1490709335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:74248557
(GRCh38)
14:74715260
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74248556:G:A
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490567168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:74238537
(GRCh38)
14:74705240
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74238536:C:T
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490549517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:74251277
(GRCh38)
14:74717980
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74251276:C:T
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- 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:
14.
rs1490162239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:74245696
(GRCh38)
14:74712399
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74245695:G:A,NC_000014.9:74245695:G:T
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
T=0.00068/2
(KOREAN)
- HGVS:
15.
rs1490075520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:74238967
(GRCh38)
14:74705670
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74238966:C:A
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489957163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:74245051
(GRCh38)
14:74711754
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74245050:G:C
- Gene:
- VSX2 (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:
18.
rs1489896974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:74261696
(GRCh38)
14:74728399
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74261695:G:A
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489786585 has merged into rs34012116 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:74256680
(GRCh38)
14:74723383
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:74256669:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.74256680_74256691del, NC_000014.9:g.74256681_74256691del, NC_000014.9:g.74256682_74256691del, NC_000014.9:g.74256683_74256691del, NC_000014.9:g.74256684_74256691del, NC_000014.9:g.74256685_74256691del, NC_000014.9:g.74256686_74256691del, NC_000014.9:g.74256687_74256691del, NC_000014.9:g.74256688_74256691del, NC_000014.9:g.74256689_74256691del, NC_000014.9:g.74256690_74256691del, NC_000014.9:g.74256691del, NC_000014.9:g.74256691dup, NC_000014.9:g.74256690_74256691dup, NC_000014.9:g.74256689_74256691dup, NC_000014.9:g.74256687_74256691dup, NC_000014.8:g.74723383_74723394del, NC_000014.8:g.74723384_74723394del, NC_000014.8:g.74723385_74723394del, NC_000014.8:g.74723386_74723394del, NC_000014.8:g.74723387_74723394del, NC_000014.8:g.74723388_74723394del, NC_000014.8:g.74723389_74723394del, NC_000014.8:g.74723390_74723394del, NC_000014.8:g.74723391_74723394del, NC_000014.8:g.74723392_74723394del, NC_000014.8:g.74723393_74723394del, NC_000014.8:g.74723394del, NC_000014.8:g.74723394dup, NC_000014.8:g.74723393_74723394dup, NC_000014.8:g.74723392_74723394dup, NC_000014.8:g.74723390_74723394dup, NG_013092.1:g.22209_22220del, NG_013092.1:g.22210_22220del, NG_013092.1:g.22211_22220del, NG_013092.1:g.22212_22220del, NG_013092.1:g.22213_22220del, NG_013092.1:g.22214_22220del, NG_013092.1:g.22215_22220del, NG_013092.1:g.22216_22220del, NG_013092.1:g.22217_22220del, NG_013092.1:g.22218_22220del, NG_013092.1:g.22219_22220del, NG_013092.1:g.22220del, NG_013092.1:g.22220dup, NG_013092.1:g.22219_22220dup, NG_013092.1:g.22218_22220dup, NG_013092.1:g.22216_22220dup
20.
rs1489658495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:74246832
(GRCh38)
14:74713535
(GRCh37)
- Canonical SPDI:
- NC_000014.9:74246831:G:C
- Gene:
- VSX2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00007/1
(
ALFA)
C=0.00022/1
(Estonian)
- HGVS: