Links from Gene
Items: 1 to 20 of 10241
1.
rs1491403445 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:29558085
(GRCh38)
19:30048992
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29558084:AT:
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
2.
rs1491307972 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G,T
[Show Flanks]
- Chromosome:
- 19:29530442
(GRCh38)
19:30021350
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29530442::A,NC_000019.10:29530442::G,NC_000019.10:29530442::T
- Gene:
- VSTM2B (Varview), LOC124904683 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.00016/1
(1000Genomes)
- HGVS:
3.
rs1491139851 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 19:29558085
(GRCh38)
19:30048993
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29558085:TGT:TGTGT
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TG=0.000014/2
(GnomAD)
TG=0.000023/6
(TOPMED)
- HGVS:
4.
rs1491082982 has merged into rs71171739 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:29556107
(GRCh38)
19:30047014
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:29556099:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.4286/1652
(ALSPAC)
A=0.4358/1616
(TWINSUK)
- HGVS:
NC_000019.10:g.29556107_29556112del, NC_000019.10:g.29556111_29556112del, NC_000019.10:g.29556112del, NC_000019.10:g.29556112dup, NC_000019.10:g.29556111_29556112dup, NC_000019.10:g.29556109_29556112dup, NC_000019.10:g.29556107_29556112dup, NC_000019.10:g.29556100_29556112dup, NC_000019.9:g.30047014_30047019del, NC_000019.9:g.30047018_30047019del, NC_000019.9:g.30047019del, NC_000019.9:g.30047019dup, NC_000019.9:g.30047018_30047019dup, NC_000019.9:g.30047016_30047019dup, NC_000019.9:g.30047014_30047019dup, NC_000019.9:g.30047007_30047019dup
5.
rs1490951441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 19:29554818
(GRCh38)
19:30045725
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29554817:GGG:GG
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490920368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:29532365
(GRCh38)
19:30023272
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29532364:T:A
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490678557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:29526451
(GRCh38)
19:30017358
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29526450:C:T
- Gene:
- VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490677021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:29524571
(GRCh38)
19:30015478
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29524570:C:A,NC_000019.10:29524570:C:T
- Gene:
- VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
C=0.25/1
(SGDP_PRJ)
- HGVS:
9.
rs1490565736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:29525376
(GRCh38)
19:30016283
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29525375:C:G,NC_000019.10:29525375:C:T
- Gene:
- VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490556244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 19:29561176
(GRCh38)
19:30052083
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29561175:G:C,NC_000019.10:29561175:G:T
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1490540921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:29560141
(GRCh38)
19:30051048
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29560140:C:G
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490496100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:29538255
(GRCh38)
19:30029162
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29538254:G:A
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490471081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:29539118
(GRCh38)
19:30030025
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29539117:T:C
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- 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:
14.
rs1490458047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:29545696
(GRCh38)
19:30036603
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29545695:A:G
- Gene:
- VSTM2B (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:
15.
rs1490398657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:29539542
(GRCh38)
19:30030449
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29539541:G:C
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490331457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:29537856
(GRCh38)
19:30028763
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29537855:C:A,NC_000019.10:29537855:C:T
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490214131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:29559203
(GRCh38)
19:30050110
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29559202:G:T
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490191508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:29523508
(GRCh38)
19:30014415
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29523507:A:G
- Gene:
- VSTM2B-DT (Varview), VSTM2B (Varview), LOC124904683 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490163051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:29558247
(GRCh38)
19:30049154
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29558246:T:C
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490022351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:29546114
(GRCh38)
19:30037021
(GRCh37)
- Canonical SPDI:
- NC_000019.10:29546113:G:A
- Gene:
- VSTM2B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: