Links from Gene
Items: 1 to 20 of 1745
1.
rs1491573725 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 6:149029910
(GRCh38)
6:149351046
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149029909:GG:
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0065/25
(ALSPAC)
-=0.0124/46
(TWINSUK)
- HGVS:
2.
rs1491536051 has merged into rs3074362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 6:149029883
(GRCh38)
6:149351019
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:149029866:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.2408/928
(ALSPAC)
-=0.4311/2159
(1000Genomes)
- HGVS:
NC_000006.12:g.149029867TG[8], NC_000006.12:g.149029867TG[9], NC_000006.12:g.149029867TG[10], NC_000006.12:g.149029867TG[11], NC_000006.12:g.149029867TG[12], NC_000006.12:g.149029867TG[13], NC_000006.12:g.149029867TG[14], NC_000006.12:g.149029867TG[15], NC_000006.12:g.149029867TG[16], NC_000006.12:g.149029867TG[17], NC_000006.12:g.149029867TG[18], NC_000006.12:g.149029867TG[19], NC_000006.12:g.149029867TG[20], NC_000006.12:g.149029867TG[21], NC_000006.12:g.149029867TG[23], NC_000006.12:g.149029867TG[24], NC_000006.12:g.149029867TG[25], NC_000006.12:g.149029867TG[26], NC_000006.12:g.149029867TG[27], NC_000006.12:g.149029867TG[28], NC_000006.12:g.149029867TG[29], NC_000006.11:g.149351003TG[8], NC_000006.11:g.149351003TG[9], NC_000006.11:g.149351003TG[10], NC_000006.11:g.149351003TG[11], NC_000006.11:g.149351003TG[12], NC_000006.11:g.149351003TG[13], NC_000006.11:g.149351003TG[14], NC_000006.11:g.149351003TG[15], NC_000006.11:g.149351003TG[16], NC_000006.11:g.149351003TG[17], NC_000006.11:g.149351003TG[18], NC_000006.11:g.149351003TG[19], NC_000006.11:g.149351003TG[20], NC_000006.11:g.149351003TG[21], NC_000006.11:g.149351003TG[23], NC_000006.11:g.149351003TG[24], NC_000006.11:g.149351003TG[25], NC_000006.11:g.149351003TG[26], NC_000006.11:g.149351003TG[27], NC_000006.11:g.149351003TG[28], NC_000006.11:g.149351003TG[29]
3.
rs1490707361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:149028723
(GRCh38)
6:149349859
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149028722:C:T
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489316422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:149031259
(GRCh38)
6:149352395
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149031258:G:T
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489136735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:149034035
(GRCh38)
6:149355171
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149034034:C:A,NC_000006.12:149034034:C:T
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1488957096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 6:149029543
(GRCh38)
6:149350679
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149029542:A:G,NC_000006.12:149029542:A:T
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000073/10
(GnomAD)
- HGVS:
8.
rs1488912941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:149031994
(GRCh38)
6:149353130
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149031993:A:G
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1488333281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:149027772
(GRCh38)
6:149348908
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149027771:C:A
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
12.
rs1487002943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:149028265
(GRCh38)
6:149349401
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149028264:A:G
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- 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:
13.
rs1486894079 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTC>-
[Show Flanks]
- Chromosome:
- 6:149032609
(GRCh38)
6:149353745
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149032604:CTTCTTC:CTTC
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486034420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:149030402
(GRCh38)
6:149351538
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149030401:G:A
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1485972856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:149034256
(GRCh38)
6:149355392
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149034255:T:G
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1485671996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:149033571
(GRCh38)
6:149354707
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149033570:T:G
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_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:
19.
rs1485444906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 6:149031328
(GRCh38)
6:149352465
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149031328:TTTTTTTT:TTTTTTTTT
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1485130762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:149028820
(GRCh38)
6:149349956
(GRCh37)
- Canonical SPDI:
- NC_000006.12:149028819:G:T
- Gene:
- UST (Varview), UST-AS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: