Links from Nucleotide
Items: 1 to 20 of 33
2.
rs1476509765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:100356657
(GRCh38)
7:99954280
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356656:C:A
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1469166371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100356718
(GRCh38)
7:99954341
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356717:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000051/1
(
ALFA)
T=0.000007/1
(GnomAD_exomes)
T=0.000342/1
(KOREAN)
- HGVS:
4.
rs1454291121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100356659
(GRCh38)
7:99954282
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356658:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1363262063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100356658
(GRCh38)
7:99954281
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356657:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000044/6
(GnomAD_exomes)
- HGVS:
7.
rs1337080033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100356671
(GRCh38)
7:99954294
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356670:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
8.
rs1316965514 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:100356683
(GRCh38)
7:99954306
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356682:CT:
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000111/1
(
ALFA)
-=0.000014/2
(GnomAD_exomes)
- HGVS:
9.
rs1315422888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:100356708
(GRCh38)
7:99954331
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356707:G:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1305704441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:100356681
(GRCh38)
7:99954304
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356680:C:A,NC_000007.14:100356680:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
11.
rs1282417113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100356675
(GRCh38)
7:99954298
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356674:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1277761640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:100356698
(GRCh38)
7:99954321
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356697:C:A,NC_000007.14:100356697:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1216024642 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:100356687
(GRCh38)
7:99954311
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356687:A:AA
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1175676927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:100356703
(GRCh38)
7:99954326
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356702:A:G
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000007/1
(GnomAD_exomes)
G=0.000011/3
(TOPMED)
- HGVS:
17.
rs1171546759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:100356714
(GRCh38)
7:99954337
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356713:G:A
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_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:
19.
rs1054810279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:100356711
(GRCh38)
7:99954334
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356710:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.00002/3
(GnomAD_exomes)
T=0.000045/12
(TOPMED)
T=0.000078/11
(GnomAD)
- HGVS:
20.
rs1040541405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:100356661
(GRCh38)
7:99954284
(GRCh37)
- Canonical SPDI:
- NC_000007.14:100356660:C:A,NC_000007.14:100356660:C:T
- Gene:
- PILRB (Varview), STAG3L5P-PVRIG2P-PILRB (Varview), MIR6840 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
T=0.000023/6
(TOPMED)
T=0.000177/3
(TOMMO)
- HGVS: