Links from Nucleotide
Items: 1 to 20 of 205
1.
rs1490481177 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82715924
(GRCh38)
17:80673800
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715923:G:A
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
2.
rs1488635055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:82714079
(GRCh38)
17:80671955
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82714078:A:G
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1481980380 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82713982
(GRCh38)
17:80671858
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82713981:G:A
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1481523607 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 17:82715800
(GRCh38)
17:80673676
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715799:GG:
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
5.
rs1480668582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:82716013
(GRCh38)
17:80673889
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82716012:T:C
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
6.
rs1477627248 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCAT>-
[Show Flanks]
- Chromosome:
- 17:82716117
(GRCh38)
17:80673993
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82716116:TCAT:
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
7.
rs1473882222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:82716074
(GRCh38)
17:80673950
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82716073:C:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000684/2
(KOREAN)
- HGVS:
8.
rs1473300301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:82714103
(GRCh38)
17:80671979
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82714102:A:G
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1471153438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:82715604
(GRCh38)
17:80673480
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715603:A:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1467037827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:82715622
(GRCh38)
17:80673498
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715621:G:A
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
11.
rs1466278498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:82713934
(GRCh38)
17:80671810
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82713933:G:C
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1462849657 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTAAAA
[Show Flanks]
- Chromosome:
- 17:82715716
(GRCh38)
17:80673593
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715716:ACTAAAA:ACTAAAACTAAAA
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACTAAAACTAAAA=0./0
(
ALFA)
ACTAAA=0.000011/3
(TOPMED)
- HGVS:
13.
rs1459145246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:82715933
(GRCh38)
17:80673809
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715932:A:T
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1454971674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:82715993
(GRCh38)
17:80673869
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715992:T:G
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
15.
rs1451409393 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:82716230
(GRCh38)
17:80674106
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82716229:C:
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
16.
rs1448866470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:82716137
(GRCh38)
17:80674013
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82716136:GGG:GG
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1448339323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:82715743
(GRCh38)
17:80673619
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82715742:T:C
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1442262483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 17:82716248
(GRCh38)
17:80674124
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82716247:T:A,NC_000017.11:82716247:T:C
- Gene:
- FN3KRP (Varview), LOC101929552 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
20.
rs1439181543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:82713908
(GRCh38)
17:80671784
(GRCh37)
- Canonical SPDI:
- NC_000017.11:82713907:G:A,NC_000017.11:82713907:G:T
- Gene:
- LOC101929552 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS: