Links from Gene
Items: 1 to 20 of 1066
1.
rs1490950092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:4785966
(GRCh38)
17:4689261
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4785965:A:G
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1490884930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:4785327
(GRCh38)
17:4688622
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4785326:C:T
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490502071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:4788274
(GRCh38)
17:4691569
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4788273:C:T
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
4.
rs1490172531 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAG>-
[Show Flanks]
- Chromosome:
- 17:4787361
(GRCh38)
17:4690656
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4787357:AAGAAG:AAG
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488059421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:4788078
(GRCh38)
17:4691373
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4788077:G:A
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS:
8.
rs1487642553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:4786510
(GRCh38)
17:4689805
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4786509:A:G
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486210026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:4785167
(GRCh38)
17:4688462
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4785166:C:T
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1486124446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:4785011
(GRCh38)
17:4688306
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4785010:T:C
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486005648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:4787530
(GRCh38)
17:4690825
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4787529:G:T
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.5/13
(SGDP_PRJ)
- HGVS:
12.
rs1484969054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAATAAATAAAT>-,AAATAAAT
[Show Flanks]
- Chromosome:
- 17:4785250
(GRCh38)
17:4688545
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4785246:AATAAATAAATAAAT:AAT,NC_000017.11:4785246:AATAAATAAATAAAT:AATAAATAAAT
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATAAATAAAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000017/1
(GnomAD)
- HGVS:
13.
rs1484872437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:4787710
(GRCh38)
17:4691005
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4787709:T:C
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1484169358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:4785654
(GRCh38)
17:4688949
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4785653:C:T
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000017.11:g.4785654C>T, NC_000017.10:g.4688949C>T, NM_182566.3:c.317G>A, NM_182566.2:c.317G>A, NM_001144939.2:c.*8G>A, NM_001144939.1:c.*8G>A, NM_001144940.2:c.297G>A, NM_001144940.1:c.297G>A, NM_001144941.2:c.201G>A, NM_001144941.1:c.201G>A, NP_872372.1:p.Gly106Asp
15.
rs1483668760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:4788043
(GRCh38)
17:4691338
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4788042:T:C
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1483178423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:4785388
(GRCh38)
17:4688683
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4785387:C:A,NC_000017.11:4785387:C:T
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- coding_sequence_variant,3_prime_UTR_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000017.11:g.4785388C>A, NC_000017.11:g.4785388C>T, NC_000017.10:g.4688683C>A, NC_000017.10:g.4688683C>T, NM_182566.3:c.583G>T, NM_182566.3:c.583G>A, NM_182566.2:c.583G>T, NM_182566.2:c.583G>A, NM_001144939.2:c.*274G>T, NM_001144939.2:c.*274G>A, NM_001144939.1:c.*274G>T, NM_001144939.1:c.*274G>A, NM_001144940.2:c.*254G>T, NM_001144940.2:c.*254G>A, NM_001144940.1:c.*254G>T, NM_001144940.1:c.*254G>A, NM_001144941.2:c.*254G>T, NM_001144941.2:c.*254G>A, NM_001144941.1:c.*254G>T, NM_001144941.1:c.*254G>A, NP_872372.1:p.Ala195Ser, NP_872372.1:p.Ala195Thr
17.
rs1481483645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:4786176
(GRCh38)
17:4689471
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4786175:G:A
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1480033304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:4787447
(GRCh38)
17:4690742
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4787446:G:C
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1479707958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:4787866
(GRCh38)
17:4691161
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4787865:T:C
- Gene:
- VMO1 (Varview), GLTPD2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
20.
rs1479390776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:4786185
(GRCh38)
17:4689480
(GRCh37)
- Canonical SPDI:
- NC_000017.11:4786184:T:A
- Gene:
- VMO1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS: