Links from Nucleotide
Items: 1 to 20 of 177
1.
rs1488716850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:12980311
(GRCh38)
12:13133245
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980310:G:A
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
2.
rs1484636296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:12980144
(GRCh38)
12:13133078
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980143:G:C
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
3.
rs1484033800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:12980016
(GRCh38)
12:13132950
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980015:G:A
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (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:
4.
rs1479851917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:12980388
(GRCh38)
12:13133322
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980387:G:A
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (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:
5.
rs1468826773 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:12980504
(GRCh38)
12:13133438
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980503:A:G
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000038/10
(TOPMED)
- HGVS:
6.
rs1466771280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:12980385
(GRCh38)
12:13133319
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980384:G:A
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1466445079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:12980518
(GRCh38)
12:13133452
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980517:T:G
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1463373196 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:12927756
(GRCh38)
12:13080690
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12927755:A:
- Gene:
- GPRC5D-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
10.
rs1461632151 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:12979540
(GRCh38)
12:13132474
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12979539:G:T
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1460108250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:12980373
(GRCh38)
12:13133307
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980372:G:C
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1459807660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:12980236
(GRCh38)
12:13133170
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980235:G:A
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1456267725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:12927742
(GRCh38)
12:13080676
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12927741:C:G,NC_000012.12:12927741:C:T
- Gene:
- GPRC5D-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.12927742C>G, NC_000012.12:g.12927742C>T, NC_000012.11:g.13080676C>G, NC_000012.11:g.13080676C>T, NR_149062.1:n.17C>G, NR_149062.1:n.17C>T, NR_149063.1:n.17C>G, NR_149063.1:n.17C>T, NR_149064.1:n.17C>G, NR_149064.1:n.17C>T, NR_149065.1:n.17C>G, NR_149065.1:n.17C>T, NR_149066.1:n.17C>G, NR_149066.1:n.17C>T, NR_149067.1:n.17C>G, NR_149067.1:n.17C>T
14.
rs1454755913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:12927729
(GRCh38)
12:13080663
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12927728:T:G
- Gene:
- GPRC5D-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1454717609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:12980006
(GRCh38)
12:13132940
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980005:T:C,NC_000012.12:12980005:T:G
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.12980006T>C, NC_000012.12:g.12980006T>G, NC_000012.11:g.13132940T>C, NC_000012.11:g.13132940T>G, NR_038920.1:n.59T>C, NR_038920.1:n.59T>G, NR_149063.1:n.416T>C, NR_149063.1:n.416T>G, NR_149064.1:n.277T>C, NR_149064.1:n.277T>G, NR_149065.1:n.265T>C, NR_149065.1:n.265T>G, NR_149066.1:n.184T>C, NR_149066.1:n.184T>G
16.
rs1454256273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:12980154
(GRCh38)
12:13133088
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980153:T:C
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1448867789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:12979584
(GRCh38)
12:13132518
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12979583:T:C
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1445077627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:12980496
(GRCh38)
12:13133430
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980495:G:A
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1438819663 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 12:12980536
(GRCh38)
12:13133471
(GRCh37)
- Canonical SPDI:
- NC_000012.12:12980536:A:AAA
- Gene:
- HEBP1 (Varview), GPRC5D-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
AA=0.000107/15
(GnomAD)
AA=0.000212/56
(TOPMED)
- HGVS: