Links from Nucleotide
Items: 1 to 20 of 800
1.
rs1490927668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATT>-
[Show Flanks]
- Chromosome:
- 11:130003594
(GRCh38)
11:129873489
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003590:ATTATT:ATT
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATTATT=0.000071/1
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
2.
rs1490797027 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:130004671
(GRCh38)
11:129874566
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130004670:GG:G
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490281052 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:130005059
(GRCh38)
11:129874954
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130005058:C:T
- Gene:
- PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489837304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:130003637
(GRCh38)
11:129873532
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003636:C:A
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00034/1
(KOREAN)
A=0.00055/1
(Korea1K)
- HGVS:
5.
rs1489813220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:130004536
(GRCh38)
11:129874431
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130004535:G:A,NC_000011.10:130004535:G:C
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1489506389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:130003617
(GRCh38)
11:129873512
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003616:C:G
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,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)
- HGVS:
7.
rs1488578026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:130003266
(GRCh38)
11:129873161
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003265:C:T
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1487595054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:130003517
(GRCh38)
11:129873412
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003516:G:C
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
9.
rs1486980102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:130004332
(GRCh38)
11:129874227
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130004331:G:A,NC_000011.10:130004331:G:T
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1486111252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 11:130003238
(GRCh38)
11:129873133
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003237:G:C,NC_000011.10:130003237:G:T
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000016/2
(GnomAD_exomes)
- HGVS:
11.
rs1484705668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:130003841
(GRCh38)
11:129873736
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003840:C:G,NC_000011.10:130003840:C:T
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
12.
rs1484336349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:130003361
(GRCh38)
11:129873256
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003360:C:G,NC_000011.10:130003360:C:T
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD_exomes)
- HGVS:
13.
rs1481382416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:130004770
(GRCh38)
11:129874665
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130004769:G:A
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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:
14.
rs1481332474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:130003122
(GRCh38)
11:129873017
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003121:G:A,NC_000011.10:130003121:G:C
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000008/1
(GnomAD_exomes)
A=0.000156/1
(1000Genomes)
G=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1481071534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:130003091
(GRCh38)
11:129872986
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003090:G:C
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000008/1
(GnomAD_exomes)
- HGVS:
17.
rs1480903760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:130002663
(GRCh38)
11:129872558
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130002662:G:C
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_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:
18.
rs1480350708 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGGT>-
[Show Flanks]
- Chromosome:
- 11:130005139
(GRCh38)
11:129875034
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130005137:TGAGGT:T
- Gene:
- PRDM10-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1479561145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:130002660
(GRCh38)
11:129872555
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130002659:C:G
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1479399868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:130003048
(GRCh38)
11:129872943
(GRCh37)
- Canonical SPDI:
- NC_000011.10:130003047:G:A
- Gene:
- PRDM10 (Varview), PRDM10-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000009/1
(GnomAD_exomes)
- HGVS: