Links from Nucleotide
Items: 1 to 20 of 879
2.
rs1491163802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:18423869
(GRCh38)
17:18327184
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18423869:GGGGG:GGGGGG
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490339049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:18423923
(GRCh38)
17:18327237
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18423922:T:G
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00009/1
(
ALFA)
G=0.00125/18
(TOMMO)
G=0.01188/14
(Korea1K)
G=0.05389/144
(KOREAN)
T=0.46154/12
(SGDP_PRJ)
- HGVS:
6.
rs1488950638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:18425185
(GRCh38)
17:18328499
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18425184:T:C
- Gene:
- KRT17P5 (Varview), KRT17P2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488782283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:18423606
(GRCh38)
17:18326920
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18423605:G:A
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000017/2
(GnomAD)
- HGVS:
8.
rs1488488182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:18424216
(GRCh38)
17:18327530
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18424215:C:A,NC_000017.11:18424215:C:T
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
9.
rs1487639928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:18422878
(GRCh38)
17:18326192
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18422877:A:G
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487300693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:18424612
(GRCh38)
17:18327926
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18424611:C:G
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000169/2
(
ALFA)
G=0.000049/13
(TOPMED)
- HGVS:
11.
rs1486914367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:18425121
(GRCh38)
17:18328435
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18425120:C:A
- Gene:
- KRT17P5 (Varview), KRT17P2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1486837515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 17:18424926
(GRCh38)
17:18328240
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18424925:T:A,NC_000017.11:18424925:T:C,NC_000017.11:18424925:T:G
- Gene:
- KRT17P5 (Varview), KRT17P2 (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)
A=0.000008/2
(TOPMED)
G=0.000132/18
(GnomAD)
G=0.010609/31
(KOREAN)
T=0.5/4
(SGDP_PRJ)
- HGVS:
NC_000017.11:g.18424926T>A, NC_000017.11:g.18424926T>C, NC_000017.11:g.18424926T>G, NC_000017.10:g.18328240T>A, NC_000017.10:g.18328240T>C, NC_000017.10:g.18328240T>G, NW_017363819.1:g.194905T>A, NW_017363819.1:g.194905T>C, NW_017363819.1:g.194905T>G, NR_001443.1:n.2746T>A, NR_001443.1:n.2746T>C, NR_001443.1:n.2746T>G
13.
rs1486804883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:18423488
(GRCh38)
17:18326802
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18423487:A:G
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00017/2
(
ALFA)
G=0.00047/3
(1000Genomes)
- HGVS:
14.
rs1485949922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:18424764
(GRCh38)
17:18328078
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18424763:CCC:CC
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000198/3
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1485714211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:18423287
(GRCh38)
17:18326601
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18423286:C:T
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00031/2
(1000Genomes)
T=0.00069/2
(KOREAN)
- HGVS:
16.
rs1485621854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:18424141
(GRCh38)
17:18327455
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18424140:G:A
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.002388/39
(
ALFA)
A=0.001203/164
(GnomAD)
G=0.5/2
(SGDP_PRJ)
- HGVS:
17.
rs1484879885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:18423719
(GRCh38)
17:18327033
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18423718:G:A,NC_000017.11:18423718:G:C
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
A=0.00035/1
(KOREAN)
A=0.00281/18
(1000Genomes)
G=0.5/1
(SGDP_PRJ)
- HGVS:
18.
rs1484820832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:18422340
(GRCh38)
17:18325654
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18422339:G:A,NC_000017.11:18422339:G:T
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00024/5
(
ALFA)
A=0.000058/8
(GnomAD)
T=0.001026/17
(TOMMO)
T=0.001369/4
(KOREAN)
T=0.003275/6
(Korea1K)
- HGVS:
19.
rs1484407016 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:18423800
(GRCh38)
17:18327114
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18423799:G:A,NC_000017.11:18423799:G:C
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1484016850 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:18424140
(GRCh38)
17:18327455
(GRCh37)
- Canonical SPDI:
- NC_000017.11:18424140:GG:GGG
- Gene:
- KRT17P5 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: