Links from Gene
Items: 1 to 20 of 2387
2.
rs1490471712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:40801469
(GRCh38)
17:38957721
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40801468:T:C
- Gene:
- KRT28 (Varview), LOC105371776 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
3.
rs1489747359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:40798132
(GRCh38)
17:38954384
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40798131:T:C
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489644025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:40795035
(GRCh38)
17:38951287
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40795034:T:G
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
5.
rs1489303817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:40801713
(GRCh38)
17:38957965
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40801712:G:A
- Gene:
- KRT28 (Varview), LOC105371776 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1489289981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:40795040
(GRCh38)
17:38951292
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40795039:A:G
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
- HGVS:
7.
rs1489190758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:40799159
(GRCh38)
17:38955411
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40799158:A:G
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1488856574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:40794541
(GRCh38)
17:38950793
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40794540:A:G
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1488322423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:40800530
(GRCh38)
17:38956782
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40800529:T:C
- Gene:
- KRT28 (Varview), LOC105371776 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1488185459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:40797362
(GRCh38)
17:38953614
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40797361:T:G
- Gene:
- KRT28 (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:
11.
rs1487956097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:40794929
(GRCh38)
17:38951181
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40794928:A:G
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1487677185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:40795879
(GRCh38)
17:38952131
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40795878:A:G
- Gene:
- KRT28 (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:
13.
rs1487653143 has merged into rs779390617 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 17:40797079
(GRCh38)
17:38953331
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40797078:CCCCC:CCCC,NC_000017.11:40797078:CCCCC:CCCCCC
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000008/1
(ExAC)
-=0.000014/2
(GnomAD)
- HGVS:
14.
rs1487588810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:40797302
(GRCh38)
17:38953554
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40797301:G:A
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1487580552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 17:40800264
(GRCh38)
17:38956516
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40800263:A:G,NC_000017.11:40800263:A:T
- Gene:
- KRT28 (Varview), LOC105371776 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487452501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:40797292
(GRCh38)
17:38953544
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40797291:G:C
- Gene:
- KRT28 (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:
17.
rs1487327674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:40795887
(GRCh38)
17:38952139
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40795886:G:A
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
- HGVS:
18.
rs1487297430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:40797092
(GRCh38)
17:38953344
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40797091:G:T
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1486143740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:40794051
(GRCh38)
17:38950303
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40794050:G:A
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1486033410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:40798304
(GRCh38)
17:38954556
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40798303:C:T
- Gene:
- KRT28 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS: