Links from Protein
Items: 1 to 20 of 185
3.
rs1473539000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150338636
(GRCh38)
7:150035725
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150338635:G:A
- Gene:
- RARRES2 (Varview), LRRC61 (Varview)
- Functional Consequence:
- 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_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.
rs1464386561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:150340118
(GRCh38)
7:150037207
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340117:G:T
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- stop_gained,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
5.
rs1464132292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150338994
(GRCh38)
7:150036083
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150338993:C:T
- Gene:
- RARRES2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1463002262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150340591
(GRCh38)
7:150037680
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340590:G:A
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1457751700 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150338669
(GRCh38)
7:150035758
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150338668:A:G
- Gene:
- RARRES2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1455238596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150340126
(GRCh38)
7:150037215
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340125:G:A
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
9.
rs1454335943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150340475
(GRCh38)
7:150037564
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340474:C:T
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,stop_gained,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1445179164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150340589
(GRCh38)
7:150037678
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340588:A:G
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1440574145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150340171
(GRCh38)
7:150037260
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340170:A:G
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1428855412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:150340557
(GRCh38)
7:150037646
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340556:C:G
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,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:
16.
rs1420528855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:150338727
(GRCh38)
7:150035816
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150338726:G:C
- Gene:
- RARRES2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1417034846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150339009
(GRCh38)
7:150036098
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150339008:G:A
- Gene:
- RARRES2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1414048136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:150338720
(GRCh38)
7:150035809
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150338719:T:C
- Gene:
- RARRES2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1406095211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:150340582
(GRCh38)
7:150037671
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340581:G:C
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000006/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1383699379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:150340155
(GRCh38)
7:150037244
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150340154:G:A
- Gene:
- RARRES2 (Varview), LOC107986858 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000008/2
(GnomAD_exomes)
- HGVS: