Links from Nucleotide
Items: 1 to 20 of 128
1.
rs1482782850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:136648664
(GRCh38)
9:139543116
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648663:A:T
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
T=0.000227/1
(Estonian)
- HGVS:
2.
rs1476528439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136648883
(GRCh38)
9:139543335
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648882:G:A
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1473106416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136648676
(GRCh38)
9:139543128
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648675:C:T
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,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:
4.
rs1472776198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:136648781
(GRCh38)
9:139543233
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648780:G:A,NC_000009.12:136648780:G:C
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
5.
rs1470444120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:136649035
(GRCh38)
9:139543487
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136649034:A:G
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1463572809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136648788
(GRCh38)
9:139543240
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648787:G:A
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1448894006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136648814
(GRCh38)
9:139543266
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648813:C:T
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1447792953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136648873
(GRCh38)
9:139543325
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648872:G:A
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000035/1
(TOMMO)
A=0.001092/2
(Korea1K)
- HGVS:
9.
rs1446942572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:136648712
(GRCh38)
9:139543164
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648711:T:C
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
10.
rs1442291049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 9:136648687
(GRCh38)
9:139543139
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648686:TTTTTTT:TTTTTT,NC_000009.12:136648686:TTTTTTT:TTTTTTTT
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000071/1
(TOMMO)
- HGVS:
12.
rs1428382571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136648939
(GRCh38)
9:139543391
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648938:C:T
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1411703315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:136648952
(GRCh38)
9:139543404
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648951:C:A
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1408369024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136649012
(GRCh38)
9:139543464
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136649011:G:A
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00003/8
(TOPMED)
- HGVS:
15.
rs1405114224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136648870
(GRCh38)
9:139543322
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648869:C:T
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000106/3
(TOMMO)
- HGVS:
16.
rs1381111289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 9:136648807
(GRCh38)
9:139543259
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648806:C:A,NC_000009.12:136648806:C:G,NC_000009.12:136648806:C:T
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
A=0.000248/4
(TOMMO)
- HGVS:
NC_000009.12:g.136648807C>A, NC_000009.12:g.136648807C>G, NC_000009.12:g.136648807C>T, NC_000009.11:g.139543259C>A, NC_000009.11:g.139543259C>G, NC_000009.11:g.139543259C>T, XR_930443.3:n.971C>A, XR_930443.3:n.971C>G, XR_930443.3:n.971C>T, XR_930443.2:n.533C>A, XR_930443.2:n.533C>G, XR_930443.2:n.533C>T, NR_135132.1:n.360G>T, NR_135132.1:n.360G>C, NR_135132.1:n.360G>A
18.
rs1357708096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136660405
(GRCh38)
9:139554857
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136660404:C:T
- Gene:
- EGFL7 (Varview), HSPC324 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1357515234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:136649026
(GRCh38)
9:139543478
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136649025:G:A
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
20.
rs1357056466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:136648785
(GRCh38)
9:139543237
(GRCh37)
- Canonical SPDI:
- NC_000009.12:136648784:C:T
- Gene:
- HSPC324 (Varview), LOC102724193 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS: