Links from Gene
Items: 1 to 20 of 1575
1.
rs1489639155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:17857166
(GRCh38)
11:17878713
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17857165:C:A,NC_000011.10:17857165:C:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
2.
rs1489205492 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:17854827
(GRCh38)
11:17876374
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17854826:T:
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489113280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:17850969
(GRCh38)
11:17872516
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17850968:T:A
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489061105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:17852191
(GRCh38)
11:17873738
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17852190:G:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
5.
rs1488990260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:17856024
(GRCh38)
11:17877571
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17856023:G:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1488655920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:17857817
(GRCh38)
11:17879364
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17857816:A:T
- Gene:
- SERGEF (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1488443885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:17849792
(GRCh38)
11:17871339
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17849791:T:C
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
9.
rs1488433173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:17851089
(GRCh38)
11:17872636
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17851088:T:C
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1488010956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:17855442
(GRCh38)
11:17876989
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17855441:G:A
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1487258371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:17852874
(GRCh38)
11:17874421
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17852873:C:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
12.
rs1486675622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:17856672
(GRCh38)
11:17878219
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17856671:A:C
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1486558530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:17857284
(GRCh38)
11:17878831
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17857283:C:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486444632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:17856321
(GRCh38)
11:17877868
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17856320:A:G
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1485878555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:17852601
(GRCh38)
11:17874148
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17852600:A:G
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1485697082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:17855269
(GRCh38)
11:17876816
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17855268:A:G
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1485318280 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:17852766
(GRCh38)
11:17874313
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17852765:C:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485263224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:17850201
(GRCh38)
11:17871748
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17850200:C:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000045/12
(TOPMED)
T=0.000071/1
(TOMMO)
T=0.000684/2
(KOREAN)
- HGVS:
19.
rs1484984501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:17852407
(GRCh38)
11:17873954
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17852406:G:A
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1484349701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:17851184
(GRCh38)
11:17872731
(GRCh37)
- Canonical SPDI:
- NC_000011.10:17851183:C:G,NC_000011.10:17851183:C:T
- Gene:
- SERGEF (Varview), LOC107984317 (Varview), LOC124902642 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: