Links from Nucleotide
Items: 1 to 20 of 1442
1.
rs1490995681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:123112701
(GRCh38)
9:125874980
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123112700:G:A
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
2.
rs1490923777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:123113470
(GRCh38)
9:125875749
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123113469:C:G
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490366934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:123111883
(GRCh38)
9:125874162
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123111882:G:A
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490199748 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 9:123111393
(GRCh38)
9:125873672
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123111392:CTT:
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
5.
rs1489992067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:123112020
(GRCh38)
9:125874299
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123112019:C:G
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
6.
rs1489726833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:123115224
(GRCh38)
9:125877503
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123115223:C:A
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000013/2
(GnomAD_exomes)
A=0.000546/1
(Korea1K)
A=0.000684/2
(KOREAN)
- HGVS:
7.
rs1488646823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:123110500
(GRCh38)
9:125872779
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123110499:G:C
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_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:
8.
rs1488042198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:123113214
(GRCh38)
9:125875493
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123113213:T:G
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1487032102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:123115300
(GRCh38)
9:125877579
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123115299:A:G
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00002/3
(GnomAD_exomes)
- HGVS:
11.
rs1485691135 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAG
[Show Flanks]
- Chromosome:
- 9:123113148
(GRCh38)
9:125875428
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123113148:CGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAG:CGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAGCGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAG
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAGCGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAG=0.000224/1
(
ALFA)
CGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAG=0.000007/1
(GnomAD)
CGGAAAGGCGTAACTTACAACCACAGACATGGTCCTCCATAGCCAG=0.000223/1
(Estonian)
- HGVS:
12.
rs1484733803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:123113326
(GRCh38)
9:125875605
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123113325:T:C
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1484477751 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:123110418
(GRCh38)
9:125872697
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123110417:T:C
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1484166891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:123110634
(GRCh38)
9:125872913
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123110633:T:A
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1483901646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:123109656
(GRCh38)
9:125871935
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123109655:A:G
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000094/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483567811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:123110700
(GRCh38)
9:125872979
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123110699:G:A
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1482634436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:123114740
(GRCh38)
9:125877019
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123114739:A:G
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1482201006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:123109699
(GRCh38)
9:125871978
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123109698:C:A,NC_000009.12:123109698:C:T
- Gene:
- STRBP (Varview), MIR600HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000009.12:g.123109699C>A, NC_000009.12:g.123109699C>T, NC_000009.11:g.125871978C>A, NC_000009.11:g.125871978C>T, NM_030814.4:c.*777G>T, NM_030814.4:c.*777G>A, NM_030814.3:c.*777G>T, NM_030814.3:c.*777G>A, XR_001746347.2:n.8470G>T, XR_001746347.2:n.8470G>A, XR_001746347.1:n.8622G>T, XR_001746347.1:n.8622G>A, NM_030814.2:c.*777G>T, NM_030814.2:c.*777G>A, XR_007061326.1:n.14241G>T, XR_007061326.1:n.14241G>A, NR_026677.1:n.5779G>T, NR_026677.1:n.5779G>A, XR_007061327.1:n.2446G>T, XR_007061327.1:n.2446G>A
19.
rs1482053715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 9:123113111
(GRCh38)
9:125875390
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123113110:AA:A
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1481984653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:123113370
(GRCh38)
9:125875649
(GRCh37)
- Canonical SPDI:
- NC_000009.12:123113369:C:T
- Gene:
- STRBP (Varview), MIR600HG (Varview), MIR600 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS: