Links from Gene
Items: 1 to 20 of 1000
1.
rs1490855817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:142615053
(GRCh38)
8:143696414
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142615052:C:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
2.
rs1490411246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:142611571
(GRCh38)
8:143692932
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142611570:C:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489426720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:142613550
(GRCh38)
8:143694911
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142613549:T:C
- Gene:
- ARC (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000063/2
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/2
(GnomAD_exomes)
C=0.000021/3
(GnomAD)
- HGVS:
4.
rs1488960239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:142613160
(GRCh38)
8:143694521
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142613159:G:A,NC_000008.11:142613159:G:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000009/2
(GnomAD_exomes)
- HGVS:
NC_000008.11:g.142613160G>A, NC_000008.11:g.142613160G>T, NC_000008.10:g.143694521G>A, NC_000008.10:g.143694521G>T, NM_015193.5:c.1112C>T, NM_015193.5:c.1112C>A, NM_015193.4:c.1112C>T, NM_015193.4:c.1112C>A, XM_047421612.1:c.1112C>T, XM_047421612.1:c.1112C>A, NP_056008.1:p.Pro371Leu, NP_056008.1:p.Pro371Gln, XP_047277568.1:p.Pro371Leu, XP_047277568.1:p.Pro371Gln
5.
rs1488889259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:142615844
(GRCh38)
8:143697205
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142615843:C:A,NC_000008.11:142615843:C:T
- Gene:
- ARC (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:
6.
rs1488345802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 8:142615941
(GRCh38)
8:143697302
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142615940:CCCCCC:CCCCC
- Gene:
- ARC (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000016/1
(GnomAD)
- HGVS:
7.
rs1488077217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:142611908
(GRCh38)
8:143693269
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142611907:G:A
- Gene:
- ARC (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1486873149 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:142615101
(GRCh38)
8:143696462
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142615100:G:A
- Gene:
- ARC (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1486848138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:142614744
(GRCh38)
8:143696105
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142614743:G:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486841923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:142614366
(GRCh38)
8:143695727
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142614365:T:G
- Gene:
- ARC (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486048804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:142614631
(GRCh38)
8:143695992
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142614630:C:A,NC_000008.11:142614630:C:G,NC_000008.11:142614630:C:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
13.
rs1485704006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 8:142616271
(GRCh38)
8:143697632
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142616270:G:C
- Gene:
- ARC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1485671243 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:142613673
(GRCh38)
8:143695034
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142613672:C:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
15.
rs1484875009 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCCA>-
[Show Flanks]
- Chromosome:
- 8:142611455
(GRCh38)
8:143692816
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142611453:AGCCA:A
- Gene:
- ARC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484408490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:142612885
(GRCh38)
8:143694246
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142612884:G:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1483089871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:142611790
(GRCh38)
8:143693151
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142611789:G:A
- Gene:
- ARC (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1482166766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:142614676
(GRCh38)
8:143696037
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142614675:G:A,NC_000008.11:142614675:G:C
- Gene:
- ARC (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1482105365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:142610824
(GRCh38)
8:143692185
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142610823:C:T
- Gene:
- ARC (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: