Links from Gene
Items: 1 to 20 of 3531
1.
rs1491547801 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTCT
[Show Flanks]
- Chromosome:
- 19:44683056
(GRCh38)
19:45186329
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44683056:TCT:TCTTTCT
- Gene:
- CEACAM19 (Varview), LOC107985306 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTTTCT=0.00008/1
(
ALFA)
TCTT=0.00015/8
(GnomAD)
- HGVS:
2.
rs1491495609 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 19:44683055
(GRCh38)
19:45186328
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44683055:C:CCC
- Gene:
- CEACAM19 (Varview), LOC107985306 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0./0
(
ALFA)
CC=0.000187/19
(GnomAD)
- HGVS:
5.
rs1490925668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:44678514
(GRCh38)
19:45181786
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44678513:G:A,NC_000019.10:44678513:G:T
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490395158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:44670227
(GRCh38)
19:45173499
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44670226:A:G
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_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:
8.
rs1490022762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44675315
(GRCh38)
19:45178587
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44675314:C:T
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489320679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:44670449
(GRCh38)
19:45173721
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44670448:A:G
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489239217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44684100
(GRCh38)
19:45187372
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44684099:C:T
- Gene:
- CEACAM19 (Varview), LOC107985306 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1489187549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 19:44683055
(GRCh38)
19:45186327
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44683054:A:C,NC_000019.10:44683054:A:G,NC_000019.10:44683054:A:T
- Gene:
- CEACAM19 (Varview), LOC107985306 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000059/6
(GnomAD)
T=0.000478/8
(TOMMO)
T=0.03833/112
(KOREAN)
A=0.5/2
(SGDP_PRJ)
- HGVS:
13.
rs1488925217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:44679011
(GRCh38)
19:45182283
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44679010:G:A
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
14.
rs1488919105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44680977
(GRCh38)
19:45184249
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44680976:C:T
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000312/2
(1000Genomes)
T=0.000691/2
(KOREAN)
T=0.001982/33
(TOMMO)
T=0.002183/4
(Korea1K)
- HGVS:
15.
rs1488912161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:44684625
(GRCh38)
19:45187897
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44684624:C:G
- Gene:
- CEACAM19 (Varview), LOC107985306 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488543228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:44678075
(GRCh38)
19:45181347
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44678074:C:G
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488288233 has merged into rs777312584 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 19:44674568
(GRCh38)
19:45177840
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44674567:TTTTTTTT:TTTTTTT,NC_000019.10:44674567:TTTTTTTT:TTTTTTTTT
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
18.
rs1488182478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:44675325
(GRCh38)
19:45178597
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44675324:A:G
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487881032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:44674891
(GRCh38)
19:45178163
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44674890:C:T
- Gene:
- CEACAM19 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1487279765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:44683079
(GRCh38)
19:45186351
(GRCh37)
- Canonical SPDI:
- NC_000019.10:44683078:T:C
- Gene:
- CEACAM19 (Varview), LOC107985306 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: