Links from Nucleotide
Items: 1 to 20 of 721
1.
rs1490275503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:129127256
(GRCh38)
7:128767310
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127255:T:C
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
2.
rs1489714992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:129126364
(GRCh38)
7:128766418
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126363:G:A
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000358/1
(KOREAN)
A=0.001062/18
(TOMMO)
A=0.001131/2
(Korea1K)
- HGVS:
4.
rs1485720719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:129127862
(GRCh38)
7:128767916
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127861:C:A
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1483603631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:129127382
(GRCh38)
7:128767436
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127381:G:C
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
6.
rs1482607744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:129126677
(GRCh38)
7:128766731
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126676:G:A
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
7.
rs1482582770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:129126372
(GRCh38)
7:128766426
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126371:C:G
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000022/3
(GnomAD)
- HGVS:
8.
rs1481736248 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 7:129126656
(GRCh38)
7:128766710
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126655:GA:
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000036/5
(GnomAD)
- HGVS:
9.
rs1478636067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:129127666
(GRCh38)
7:128767720
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127665:T:C
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1478081997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:129127444
(GRCh38)
7:128767498
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127443:G:A
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000006/1
(GnomAD_exomes)
- HGVS:
11.
rs1476033572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:129126354
(GRCh38)
7:128766408
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126353:G:C
- Gene:
- LOC407835 (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=0.000015/4
(TOPMED)
- HGVS:
12.
rs1475751488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:129127684
(GRCh38)
7:128767738
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127683:C:A,NC_000007.14:129127683:C:T
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000006/1
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1475374774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 7:129126914
(GRCh38)
7:128766969
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126914:A:AAA
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
AA=0.000007/1
(GnomAD)
- HGVS:
14.
rs1474707296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:129127175
(GRCh38)
7:128767229
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127174:G:A
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- 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)
A=0.000012/2
(GnomAD_exomes)
- HGVS:
15.
rs1474536786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:129127897
(GRCh38)
7:128767951
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127896:C:T
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1473880347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:129127940
(GRCh38)
7:128767994
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127939:G:T
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000312/2
(1000Genomes)
- HGVS:
17.
rs1472179407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:129126565
(GRCh38)
7:128766619
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126564:T:C
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- 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.
rs1472069020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:129126417
(GRCh38)
7:128766471
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126416:C:A
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1469242071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:129126763
(GRCh38)
7:128766817
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129126762:C:G
- Gene:
- LOC407835 (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)
- HGVS:
20.
rs1467890577 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:129127066
(GRCh38)
7:128767120
(GRCh37)
- Canonical SPDI:
- NC_000007.14:129127065:C:G
- Gene:
- LOC407835 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: