Links from Protein
Items: 1 to 20 of 200
1.
rs1481776042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:35470583
(GRCh38)
6:35438360
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35470582:T:G
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1478015879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:35469409
(GRCh38)
6:35437186
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35469408:T:C
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1467619736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:35469519
(GRCh38)
6:35437296
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35469518:C:T
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
4.
rs1467517938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:35470212
(GRCh38)
6:35437989
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35470211:C:G
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1464606304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:35470589
(GRCh38)
6:35438366
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35470588:C:T
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- 500B_downstream_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
6.
rs1458718419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:35469477
(GRCh38)
6:35437254
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35469476:C:T
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1442498537 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 6:35469394
(GRCh38)
6:35437171
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35469393:CCCC:CCC
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0.000111/1
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1437307044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:35468837
(GRCh38)
6:35436614
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35468836:G:C
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1430263677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:35470319
(GRCh38)
6:35438096
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35470318:G:T
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000111/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1429980035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:35468951
(GRCh38)
6:35436728
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35468950:C:T
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1428758317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:35470586
(GRCh38)
6:35438363
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35470585:T:G
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
14.
rs1423418843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:35470204
(GRCh38)
6:35437981
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35470203:C:T
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000012/3
(GnomAD_exomes)
- HGVS:
16.
rs1413516711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:35470617
(GRCh38)
6:35438394
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35470616:T:A
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1409686613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:35469023
(GRCh38)
6:35436800
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35469022:G:A
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1408883666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCTA
[Show Flanks]
- Chromosome:
- 6:35469398
(GRCh38)
6:35437176
(GRCh37)
- Canonical SPDI:
- NC_000006.12:35469398:CCCTA:CCCTACCCTA
- Gene:
- RPL10A (Varview), MIR7111 (Varview)
- Functional Consequence:
- frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCTACCCTA=0./0
(
ALFA)
CCCTA=0.000004/1
(TOPMED)
CCCTA=0.000007/1
(GnomAD)
- HGVS: