Links from Nucleotide
Items: 1 to 20 of 240
1.
rs1490249184 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAG>-
[Show Flanks]
- Chromosome:
- 15:76259400
(GRCh38)
15:76551741
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259397:AGGAG:AG
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1487295934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:76259748
(GRCh38)
15:76552089
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259747:A:G
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1484132771 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAGAGGCT>-
[Show Flanks]
- Chromosome:
- 15:76259942
(GRCh38)
15:76552283
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259933:CAGAGGCTCAGAGGCT:CAGAGGCT
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAGAGGCTCAGAGGCT=0.08827/1047
(
ALFA)
- HGVS:
4.
rs1483435099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:76259464
(GRCh38)
15:76551805
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259463:A:C
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000216/4
(
ALFA)
C=0.000035/1
(TOMMO)
C=0.000057/15
(TOPMED)
C=0.000057/8
(GnomAD)
C=0.000684/2
(KOREAN)
C=0.000893/4
(Estonian)
C=0.003275/6
(Korea1K)
- HGVS:
5.
rs1478480225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:76259548
(GRCh38)
15:76551889
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259547:C:G
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1477460616 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:76259475
(GRCh38)
15:76551816
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259474:G:A
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
A=0.000042/11
(TOPMED)
A=0.000546/1
(Korea1K)
A=0.000684/2
(KOREAN)
- HGVS:
7.
rs1473467698 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GATCATACA>-
[Show Flanks]
- Chromosome:
- 15:76259369
(GRCh38)
15:76551710
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259367:AGATCATACA:A
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
8.
rs1466584305 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 15:76259821
(GRCh38)
15:76552162
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259820:GGG:GG
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
9.
rs1466367187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:76259917
(GRCh38)
15:76552258
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259916:A:G
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.072679/1187
(
ALFA)
G=0.008599/144
(TOMMO)
G=0.011294/33
(KOREAN)
G=0.012009/22
(Korea1K)
G=0.024361/2684
(GnomAD)
G=0.069488/445
(1000Genomes)
A=0.5/5
(SGDP_PRJ)
- HGVS:
10.
rs1465123535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:76259809
(GRCh38)
15:76552150
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259808:T:C
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_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:
11.
rs1463072527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:76259910
(GRCh38)
15:76552251
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259909:G:C
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00031/2
(1000Genomes)
- HGVS:
12.
rs1459117429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:76259562
(GRCh38)
15:76551903
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259561:G:A
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
13.
rs1456562200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:76259731
(GRCh38)
15:76552072
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259730:T:C
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
T=0.5/1
(SGDP_PRJ)
- HGVS:
14.
rs1452390535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:76259486
(GRCh38)
15:76551827
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259485:A:G
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
15.
rs1449807670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 15:76259688
(GRCh38)
15:76552029
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259684:GAGAG:GAG
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAG=0.000084/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1448258431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:76259878
(GRCh38)
15:76552219
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259877:G:A
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
17.
rs1447073258 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 15:76259935
(GRCh38)
15:76552276
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259934:A:
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.13534/615
(
ALFA)
-=0.01055/177
(TOMMO)
-=0.01474/27
(Korea1K)
- HGVS:
18.
rs1446278882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGGTCCCCATGC>-
[Show Flanks]
- Chromosome:
- 15:76259868
(GRCh38)
15:76552209
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259864:TGCAGGTCCCCATGC:TGC
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
19.
rs1441018445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:76260002
(GRCh38)
15:76552343
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76260001:G:A
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000169/2
(
ALFA)
A=0.00015/21
(GnomAD)
- HGVS:
20.
rs1438679935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:76259912
(GRCh38)
15:76552253
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76259911:G:A
- Gene:
- ETFA (Varview), TYRO3P (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: