Links from Gene
Items: 1 to 20 of 1000
1.
rs1490661203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:79139949
(GRCh38)
2:79367075
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79139948:A:G
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
2.
rs1489462348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:79139732
(GRCh38)
2:79366858
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79139731:A:G
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
3.
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:
5.
rs1488062210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:79138941
(GRCh38)
2:79366067
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79138940:A:G
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
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:
7.
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:
9.
rs1484704939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:79138541
(GRCh38)
2:79365667
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79138540:C:T
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
10.
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:
11.
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:
12.
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:
14.
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:
15.
rs1480396632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:79140169
(GRCh38)
2:79367295
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79140168:C:T
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
16.
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:
17.
rs1478498436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:79139120
(GRCh38)
2:79366246
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79139119:G:A
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1478147710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:79138569
(GRCh38)
2:79365695
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79138568:T:C
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1477724107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:79140043
(GRCh38)
2:79367169
(GRCh37)
- Canonical SPDI:
- NC_000002.12:79140042:G:T
- Gene:
- REG1CP (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS: