Links from Nucleotide
Items: 1 to 20 of 375
1.
rs1482348309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:58259862
(GRCh38)
8:59172421
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58259861:G:T
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
3.
rs1475364063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:58271494
(GRCh38)
8:59184053
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58271493:C:A
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1475186154 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGA>-
[Show Flanks]
- Chromosome:
- 8:58260017
(GRCh38)
8:59172576
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58260015:AGGA:A
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
- HGVS:
5.
rs1472917518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:58260557
(GRCh38)
8:59173116
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58260556:C:A,NC_000008.11:58260556:C:T
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
6.
rs1471469400 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 8:58257815
(GRCh38)
8:59170375
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58257815:CTT:CTTCTT
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTTCTT=0./0
(
ALFA)
CTT=0.000004/1
(TOPMED)
CTT=0.000007/1
(GnomAD)
- HGVS:
7.
rs1471437314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:58259136
(GRCh38)
8:59171695
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58259135:A:G
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1468633155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:58257833
(GRCh38)
8:59170392
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58257832:G:C
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1467559749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:58272079
(GRCh38)
8:59184638
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58272078:C:G
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
11.
rs1463344363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:58256049
(GRCh38)
8:59168608
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58256048:C:G
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
13.
rs1457323718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 8:58256004
(GRCh38)
8:59168563
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58256003:A:T
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
14.
rs1455949849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:58255955
(GRCh38)
8:59168514
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58255954:T:C
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1451013229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:58259922
(GRCh38)
8:59172481
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58259921:A:C
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1450471991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:58260529
(GRCh38)
8:59173088
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58260528:C:T
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000044/6
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1450181171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:58257818
(GRCh38)
8:59170377
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58257817:T:G
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_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:
18.
rs1449996675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:58271936
(GRCh38)
8:59184495
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58271935:A:G
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1449069819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:58259186
(GRCh38)
8:59171745
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58259185:A:G
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1448699084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:58259247
(GRCh38)
8:59171806
(GRCh37)
- Canonical SPDI:
- NC_000008.11:58259246:A:G
- Gene:
- LOC101929528 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: