Links from Gene
Items: 1 to 20 of 3204
1.
rs1490380961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12197251
(GRCh38)
19:12308066
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12197250:T:C
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
2.
rs1490058433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12199236
(GRCh38)
19:12310051
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12199235:T:C
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490041553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12201986
(GRCh38)
19:12312801
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12201985:A:G
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489435452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12193831
(GRCh38)
19:12304646
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12193830:C:T
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1489405763 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 19:12194855
(GRCh38)
19:12305670
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12194854:CCCCCC:CCCCC,NC_000019.10:12194854:CCCCCC:CCCCCCC
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
C=0.00006/1
(TOMMO)
- HGVS:
6.
rs1489253919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:12201618
(GRCh38)
19:12312433
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12201617:A:C,NC_000019.10:12201617:A:G
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
7.
rs1489206332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTTTTTAT,TTTTTTTTTTTAT
[Show Flanks]
- Chromosome:
- 19:12197516
(GRCh38)
19:12308332
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12197516:T:TTTTTTTAT,NC_000019.10:12197516:T:TTTTTTTTTTTTAT
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTAT=0.0002/1
(
ALFA)
TTTTTTTA=0.0002/1
(Estonian)
- HGVS:
8.
rs1488647872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:12204591
(GRCh38)
19:12315406
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12204590:G:A,NC_000019.10:12204590:G:T
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1488595704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 19:12205613
(GRCh38)
19:12316428
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12205612:C:A,NC_000019.10:12205612:C:G
- Gene:
- LOC100289333 (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)
G=0.002396/7
(KOREAN)
- HGVS:
10.
rs1488512672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:12199466
(GRCh38)
19:12310281
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12199465:G:A,NC_000019.10:12199465:G:C
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488447129 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTA>-
[Show Flanks]
- Chromosome:
- 19:12196859
(GRCh38)
19:12307674
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12196856:TAGTA:TA
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
12.
rs1488243563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 19:12200012
(GRCh38)
19:12310827
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12200011:A:C,NC_000019.10:12200011:A:T
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1487919539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:12204233
(GRCh38)
19:12315048
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12204232:G:T
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487801175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12197177
(GRCh38)
19:12307992
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12197176:T:C
- Gene:
- LOC100289333 (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:
15.
rs1487749341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12194947
(GRCh38)
19:12305762
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12194946:A:G
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000216/4
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000893/4
(Estonian)
- HGVS:
16.
rs1487691059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:12199492
(GRCh38)
19:12310307
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12199491:A:C
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1487551690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:12193047
(GRCh38)
19:12303862
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12193046:T:A
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1487290739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:12200336
(GRCh38)
19:12311151
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12200335:G:A
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1487078190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12196909
(GRCh38)
19:12307724
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12196908:T:C
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1486697413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:12203521
(GRCh38)
19:12314336
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12203520:T:A
- Gene:
- LOC100289333 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS: