Links from Gene
Items: 1 to 20 of 2484
1.
rs1490738177 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:111991071
(GRCh38)
1:112533693
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111991070:G:C,NC_000001.11:111991070:G:T
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000052/7
(GnomAD_exomes)
- HGVS:
2.
rs1490729687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:111996580
(GRCh38)
1:112539202
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111996579:A:G
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
4.
rs1490310524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:111989588
(GRCh38)
1:112532210
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111989587:G:A
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000015/2
(GnomAD)
- HGVS:
5.
rs1489997957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:111999100
(GRCh38)
1:112541722
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111999099:G:A
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
6.
rs1489139218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:111990487
(GRCh38)
1:112533109
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111990486:G:A
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489050348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:111994713
(GRCh38)
1:112537335
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111994712:C:G
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1487755886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:111991197
(GRCh38)
1:112533819
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111991196:G:A,NC_000001.11:111991196:G:C
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1487236600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:111990357
(GRCh38)
1:112532979
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111990356:G:T
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1487067823 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTA>-
[Show Flanks]
- Chromosome:
- 1:111996115
(GRCh38)
1:112538737
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111996110:TTTAATTTA:TTTA
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTA=0.000142/2
(
ALFA)
-=0.000042/11
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
11.
rs1486973972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 1:111989908
(GRCh38)
1:112532530
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111989907:C:A,NC_000001.11:111989907:C:G
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1486755407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:111992644
(GRCh38)
1:112535266
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111992643:G:A
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1486421970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:111991762
(GRCh38)
1:112534384
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111991761:C:G
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
14.
rs1485897252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:111989578
(GRCh38)
1:112532200
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111989577:C:A
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1485220641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:111992166
(GRCh38)
1:112534788
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111992165:C:G
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1485119828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:111993113
(GRCh38)
1:112535735
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111993112:G:A
- Gene:
- LINC01750 (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:
17.
rs1485083609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:111988149
(GRCh38)
1:112530771
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111988148:C:T
- Gene:
- KCND3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
18.
rs1484793681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:111993729
(GRCh38)
1:112536351
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111993728:C:G
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1484694868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:111993273
(GRCh38)
1:112535895
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111993272:T:C
- Gene:
- LINC01750 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
20.
rs1484456061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:111989087
(GRCh38)
1:112531709
(GRCh37)
- Canonical SPDI:
- NC_000001.11:111989086:C:T
- Gene:
- KCND3 (Varview), LINC01750 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.111989087C>T, NC_000001.10:g.112531709C>T, NG_032011.2:g.5069G>A, NM_004980.5:c.-412G>A, NM_004980.4:c.-412G>A, NM_172198.3:c.-412G>A, NM_172198.2:c.-412G>A, XM_006710629.5:c.-224G>A, XM_006710629.4:c.-224G>A, XM_006710629.3:c.-224G>A, XM_006710629.2:c.-224G>A, XM_006710629.1:c.-224G>A, XM_017001244.3:c.-239G>A, XM_017001244.2:c.-239G>A, XM_017001244.1:c.-239G>A, XM_017001245.3:c.-224G>A, XM_017001245.2:c.-224G>A, XM_017001245.1:c.-224G>A