Links from Gene
Items: 1 to 20 of 897
1.
rs1490483180 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:89950101
(GRCh38)
12:90343878
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89950100:A:
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488291608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:89947794
(GRCh38)
12:90341571
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89947793:A:C
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1487797544 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGCTAAT>-
[Show Flanks]
- Chromosome:
- 12:89948462
(GRCh38)
12:90342239
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89948459:ATTGCTAAT:AT
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0.000071/1
(
ALFA)
-=0.000086/12
(GnomAD)
-=0.000151/40
(TOPMED)
-=0.000312/2
(1000Genomes)
- HGVS:
4.
rs1486688163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:89946794
(GRCh38)
12:90340571
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89946793:G:A
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1482804001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:89947985
(GRCh38)
12:90341762
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89947984:G:C
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1482792020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:89948004
(GRCh38)
12:90341781
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89948003:G:A
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1481985314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:89949135
(GRCh38)
12:90342912
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89949134:G:A,NC_000012.12:89949134:G:T
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1481087453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:89946686
(GRCh38)
12:90340463
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89946685:G:A
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
12.
rs1478911479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 12:89948444
(GRCh38)
12:90342221
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89948443:CC:C
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0.000084/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1477572326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:89946661
(GRCh38)
12:90340438
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89946660:C:G
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1476251597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:89947980
(GRCh38)
12:90341757
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89947979:T:C
- Gene:
- LOC105369890 (Varview), LINC02399 (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.
rs1476159202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:89949145
(GRCh38)
12:90342922
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89949144:A:G
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
16.
rs1475335762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:89946371
(GRCh38)
12:90340148
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89946370:T:C
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1475270443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:89947503
(GRCh38)
12:90341280
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89947502:G:A,NC_000012.12:89947502:G:T
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1475115181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:89946045
(GRCh38)
12:90339822
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89946044:C:G,NC_000012.12:89946044:C:T
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1473292349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:89949940
(GRCh38)
12:90343717
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89949939:C:T
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_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:
20.
rs1473050896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:89947971
(GRCh38)
12:90341748
(GRCh37)
- Canonical SPDI:
- NC_000012.12:89947970:T:C
- Gene:
- LOC105369890 (Varview), LINC02399 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: