Links from Nucleotide
Items: 1 to 20 of 709
1.
rs1489277996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:79137578
(GRCh38)
2:79364704
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79137577:G:A,NC_000002.12:79137577:G:C
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
3.
rs1487469255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:79136890
(GRCh38)
2:79364016
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79136889:G:A,NC_000002.12:79136889:G:C
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00034/1
(KOREAN)
- HGVS:
4.
rs1487083581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:79137960
(GRCh38)
2:79365086
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79137959:A:G
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS:
6.
rs1484493238 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:79137410
(GRCh38)
2:79364536
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79137409:C:T
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_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:
7.
rs1482310474 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:79136465
(GRCh38)
2:79363591
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79136464:C:G
- Gene:
- REG1CP (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:
8.
rs1481285881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:79136723
(GRCh38)
2:79363849
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79136722:T:C
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1480771619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:79136789
(GRCh38)
2:79363915
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79136788:T:C
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1480306666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:79135825
(GRCh38)
2:79362951
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79135824:G:A
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
11.
rs1477596316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:79136479
(GRCh38)
2:79363605
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79136478:T:C
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
12.
rs1477035371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:79137653
(GRCh38)
2:79364779
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79137652:G:A
- Gene:
- REG1CP (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=0.000008/2
(TOPMED)
- HGVS:
13.
rs1476317547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:79137193
(GRCh38)
2:79364319
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79137192:C:A,NC_000002.12:79137192:C:T
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1476281086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 2:79135623
(GRCh38)
2:79362749
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79135616:GAGAGAGA:GAGAGA
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
15.
rs1471839539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:79138395
(GRCh38)
2:79365521
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79138394:T:C
- Gene:
- REG1CP (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:
16.
rs1471718817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:79137112
(GRCh38)
2:79364238
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79137111:T:C
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1468943248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:79136246
(GRCh38)
2:79363372
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79136245:C:T
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- non_coding_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:
20.
rs1467195336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:79137766
(GRCh38)
2:79364892
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79137765:T:C
- Gene:
- REG1CP (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: