Links from Gene
Items: 1 to 20 of 1000
1.
rs1490800340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41517771
(GRCh38)
17:39674023
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517770:T:C
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490225081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:41514615
(GRCh38)
17:39670867
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41514614:C:T
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- intron_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.
rs1490023683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:41522776
(GRCh38)
17:39679028
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41522775:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489387137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41523357
(GRCh38)
17:39679609
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41523356:T:C
- Gene:
- KRT19 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
7.
rs1488905226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 17:41517595
(GRCh38)
17:39673847
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517594:C:A,NC_000017.11:41517594:C:G
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
G=0.000035/1
(TOMMO)
A=0.000042/1
(GnomAD_exomes)
A=0.000042/11
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
8.
rs1488876700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41523737
(GRCh38)
17:39679989
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41523736:G:A
- Gene:
- KRT19 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1488402333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:41517203
(GRCh38)
17:39673455
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517202:C:G
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
10.
rs1488400260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41522887
(GRCh38)
17:39679139
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41522886:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
11.
rs1488368246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:41521882
(GRCh38)
17:39678134
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41521881:C:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488334182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:41520769
(GRCh38)
17:39677021
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41520768:T:A
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488202794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:41514399
(GRCh38)
17:39670651
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41514398:G:T
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000106/2
(TOMMO)
- HGVS:
14.
rs1487798321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:41514070
(GRCh38)
17:39670322
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41514069:C:T
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000017.11:g.41514070C>T, NC_000017.10:g.39670322C>T, NG_012284.1:g.9949G>A, NM_002275.4:c.1324G>A, NM_002275.3:c.1324G>A, XM_011524784.4:c.1345G>A, XM_011524784.3:c.1345G>A, XM_011524784.2:c.1345G>A, XM_011524784.1:c.1345G>A, NP_002266.3:p.Glu442Lys, XP_011523086.1:p.Glu449Lys
15.
rs1487388537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 17:41521428
(GRCh38)
17:39677680
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41521427:A:C,NC_000017.11:41521427:A:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486990063 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 17:41515937
(GRCh38)
17:39672189
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41515936:A:
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000051/1
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000012/3
(GnomAD_exomes)
-=0.000014/2
(GnomAD)
- HGVS:
NC_000017.11:g.41515937del, NC_000017.10:g.39672189del, NG_012284.1:g.8082del, NM_002275.4:c.974del, NM_002275.3:c.974del, XM_011524784.4:c.995del, XM_011524784.3:c.995del, XM_011524784.2:c.995del, XM_011524784.1:c.995del, XM_017024614.3:c.995del, XM_017024614.2:c.995del, XM_017024614.1:c.995del, NP_002266.3:p.Leu325fs, XP_011523086.1:p.Leu332fs, XP_016880103.1:p.Leu332fs
17.
rs1486797426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41513615
(GRCh38)
17:39669867
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41513614:A:G
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1486759319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41520342
(GRCh38)
17:39676594
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41520341:G:A
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1486557603 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:41517331
(GRCh38)
17:39673583
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517330:CC:C
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
20.
rs1486242113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:41513528
(GRCh38)
17:39669780
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41513527:C:A
- Gene:
- KRT15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: