Links from Nucleotide
Items: 1 to 20 of 217
1.
rs1487356752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:66767786
(GRCh38)
8:67680021
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767785:A:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1487272165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:66767495
(GRCh38)
8:67679730
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767494:A:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1486393309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:66767363
(GRCh38)
8:67679598
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767362:A:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
4.
rs1478352729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:66767583
(GRCh38)
8:67679818
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767582:C:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_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:
5.
rs1476576858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:66767811
(GRCh38)
8:67680046
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767810:T:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1472489197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:66767697
(GRCh38)
8:67679932
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767696:A:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1464369728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:66767616
(GRCh38)
8:67679851
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767615:C:T
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1462976393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:66767514
(GRCh38)
8:67679749
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767513:A:T
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1456827292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:66767608
(GRCh38)
8:67679843
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767607:T:C
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1446626619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:66767752
(GRCh38)
8:67679987
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767751:T:A
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1445111707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:66767539
(GRCh38)
8:67679774
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767538:T:C
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1441720418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:66767776
(GRCh38)
8:67680011
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767775:G:T
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1438191251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:66767678
(GRCh38)
8:67679913
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767677:C:T
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1431198103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:66767425
(GRCh38)
8:67679660
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767424:G:A,NC_000008.11:66767424:G:T
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000008.11:g.66767425G>A, NC_000008.11:g.66767425G>T, NC_000008.10:g.67679660G>A, NC_000008.10:g.67679660G>T, NG_050857.1:g.60008G>A, NG_050857.1:g.60008G>T, NR_002734.2:n.610C>T, NR_002734.2:n.610C>A, NR_002734.1:n.581C>T, NR_002734.1:n.581C>A, NM_021000.1:c.581C>T, NM_021000.1:c.581C>A
17.
rs1429346531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:66767504
(GRCh38)
8:67679739
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767503:T:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1406949400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:66767855
(GRCh38)
8:67680090
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767854:C:T
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS:
20.
rs1402047588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:66767913
(GRCh38)
8:67680148
(GRCh37)
- Canonical SPDI:
- NC_000008.11:66767912:T:G
- Gene:
- SGK3 (Varview), PTTG3P (Varview), C8orf44-SGK3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS: