Links from Nucleotide
Items: 1 to 20 of 377
1.
rs1488991856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:6233114
(GRCh38)
4:6234841
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233113:G:C
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1487609898 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:6233497
(GRCh38)
4:6235224
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233496:T:C
- Gene:
- JAKMIP1-DT (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)
C=0.000035/1
(TOMMO)
- HGVS:
4.
rs1484212229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:6226991
(GRCh38)
4:6228718
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6226990:T:A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1482992272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:6233188
(GRCh38)
4:6234915
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233187:G:T
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
6.
rs1480701950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:6200937
(GRCh38)
4:6202664
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6200936:C:T
- Gene:
- JAKMIP1 (Varview), JAKMIP1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1478980568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:6228064
(GRCh38)
4:6229791
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6228063:A:G
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
8.
rs1478585388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:6233251
(GRCh38)
4:6234978
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233250:G:A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
9.
rs1477553554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:6233091
(GRCh38)
4:6234818
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233090:C:G
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1472408941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:6200877
(GRCh38)
4:6202604
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6200876:A:T
- Gene:
- JAKMIP1 (Varview), JAKMIP1-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1469901739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:6200810
(GRCh38)
4:6202537
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6200809:G:A,NC_000004.12:6200809:G:C
- Gene:
- JAKMIP1 (Varview), JAKMIP1-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
12.
rs1468503963 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:6233707
(GRCh38)
4:6235434
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233706:T:C
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000034/9
(TOPMED)
- HGVS:
13.
rs1468386546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:6233088
(GRCh38)
4:6234815
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233087:A:G
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1467047424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:6233370
(GRCh38)
4:6235097
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233369:T:G
- Gene:
- JAKMIP1-DT (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:
15.
rs1464281221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:6233624
(GRCh38)
4:6235351
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233623:G:A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000136/19
(GnomAD)
- HGVS:
17.
rs1462451420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:6233753
(GRCh38)
4:6235480
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6233752:A:C
- Gene:
- JAKMIP1-DT (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:
18.
rs1457825383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:6228049
(GRCh38)
4:6229776
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6228048:A:C
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1456770709 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:6232873
(GRCh38)
4:6234600
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6232872:A:G
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000043/6
(GnomAD)
G=0.000142/2
(TOMMO)
G=0.000342/1
(KOREAN)
- HGVS:
20.
rs1456246942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:6232928
(GRCh38)
4:6234655
(GRCh37)
- Canonical SPDI:
- NC_000004.12:6232927:G:A
- Gene:
- JAKMIP1-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: