Links from Gene
Items: 1 to 20 of 3210
1.
rs1490912805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:17522114
(GRCh38)
4:17523737
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17522113:A:G
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490738525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:17521302
(GRCh38)
4:17522925
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17521301:G:A,NC_000004.12:17521301:G:C
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
3.
rs1490192111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:17515041
(GRCh38)
4:17516664
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17515040:T:C
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490166810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:17516177
(GRCh38)
4:17517800
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17516176:A:G
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489934544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:17523199
(GRCh38)
4:17524822
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17523198:C:G
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489888369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:17524076
(GRCh38)
4:17525699
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17524075:C:T
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489575411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:17516673
(GRCh38)
4:17518296
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17516672:G:C
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
8.
rs1489430514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:17524489
(GRCh38)
4:17526112
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17524488:T:C
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1489227195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:17523603
(GRCh38)
4:17525226
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17523602:G:A
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489001661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:17524388
(GRCh38)
4:17526011
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17524387:A:G
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488830458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:17519593
(GRCh38)
4:17521216
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17519592:G:A
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000016/2
(GnomAD)
- HGVS:
12.
rs1488737929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:17520548
(GRCh38)
4:17522171
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17520547:A:G
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
13.
rs1488592201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:17517293
(GRCh38)
4:17518916
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17517292:A:G
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488489654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:17524527
(GRCh38)
4:17526150
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17524526:G:A
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487562186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:17517635
(GRCh38)
4:17519258
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17517634:T:C
- Gene:
- CLRN2 (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:
16.
rs1487449766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:17526103
(GRCh38)
4:17527726
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17526102:A:C
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1487299242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:17514334
(GRCh38)
4:17515957
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17514333:G:A
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1487092264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:17517737
(GRCh38)
4:17519360
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17517736:G:A
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
19.
rs1486572738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:17518057
(GRCh38)
4:17519680
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17518056:T:C
- Gene:
- CLRN2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1486374270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:17513816
(GRCh38)
4:17515439
(GRCh37)
- Canonical SPDI:
- NC_000004.12:17513815:T:C
- Gene:
- QDPR (Varview), CLRN2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: