Links from Gene
Items: 1 to 20 of 5663
1.
rs1491279791 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 16:1063934
(GRCh38)
16:1113935
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1063934::A
- Gene:
- SSTR5-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
2.
rs1490884762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:1078684
(GRCh38)
16:1128684
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1078683:C:T
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490722807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:1063662
(GRCh38)
16:1113662
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1063661:G:C
- Gene:
- SSTR5-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490626678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:1072986
(GRCh38)
16:1122986
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1072985:C:G,NC_000016.10:1072985:C:T
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
5.
rs1490618095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 16:1072681
(GRCh38)
16:1122681
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1072680:G:A,NC_000016.10:1072680:G:C
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490447383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:1065518
(GRCh38)
16:1115518
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1065517:G:A
- Gene:
- SSTR5-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490184640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:1066401
(GRCh38)
16:1116401
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1066400:G:A,NC_000016.10:1066400:G:T
- Gene:
- SSTR5-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490140247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:1072431
(GRCh38)
16:1122431
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1072430:G:A
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1489675250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 16:1079383
(GRCh38)
16:1129383
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1079382:T:A
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000016.10:g.1079383T>A, NC_000016.9:g.1129383T>A, NG_016744.1:g.11628T>A, NM_001053.4:c.515T>A, NM_001053.3:c.515T>A, NM_001172560.3:c.515T>A, NM_001172560.2:c.515T>A, NM_001172560.1:c.515T>A, NM_001172572.1:c.515T>A, NM_001172573.1:c.515T>A, NP_001044.1:p.Leu172Gln, NP_001166031.1:p.Leu172Gln
12.
rs1489628247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:1078351
(GRCh38)
16:1128351
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1078350:A:G
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489438855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:1074253
(GRCh38)
16:1124253
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1074252:T:C
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489415789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:1071376
(GRCh38)
16:1121376
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1071375:A:G
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489376391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:1076404
(GRCh38)
16:1126404
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1076403:A:G
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489183251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:1075263
(GRCh38)
16:1125263
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1075262:G:A
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0./0
(GnomAD)
A=0.000038/10
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000177/3
(TOMMO)
A=0.000223/1
(Estonian)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
G=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1489182319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:1071584
(GRCh38)
16:1121584
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1071583:G:C
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1489152080 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AACCC
[Show Flanks]
- Chromosome:
- 16:1072307
(GRCh38)
16:1122308
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1072307:AACCC:AACCCAACCC
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AACCCAACCC=0./0
(
ALFA)
AACCC=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489063573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:1070068
(GRCh38)
16:1120068
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1070067:C:G
- Gene:
- SSTR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488957782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:1079331
(GRCh38)
16:1129331
(GRCh37)
- Canonical SPDI:
- NC_000016.10:1079330:G:A,NC_000016.10:1079330:G:T
- Gene:
- SSTR5 (Varview), SSTR5-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.1079331G>A, NC_000016.10:g.1079331G>T, NC_000016.9:g.1129331G>A, NC_000016.9:g.1129331G>T, NG_016744.1:g.11576G>A, NG_016744.1:g.11576G>T, NM_001053.4:c.463G>A, NM_001053.4:c.463G>T, NM_001053.3:c.463G>A, NM_001053.3:c.463G>T, NM_001172560.3:c.463G>A, NM_001172560.3:c.463G>T, NM_001172560.2:c.463G>A, NM_001172560.2:c.463G>T, NM_001172560.1:c.463G>A, NM_001172560.1:c.463G>T, NM_001172572.1:c.463G>A, NM_001172572.1:c.463G>T, NM_001172573.1:c.463G>A, NM_001172573.1:c.463G>T, NP_001044.1:p.Val155Met, NP_001044.1:p.Val155Leu, NP_001166031.1:p.Val155Met, NP_001166031.1:p.Val155Leu