SNP Links for Gene (Select 6202) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14897542921.

rs1489754292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:44777605 (GRCh38)
1:45243277 (GRCh37)
Canonical SPDI:: NC_000001.11:44777604:T:C
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44777605T>C, NC_000001.10:g.45243277T>C

Select item 14897276542.

rs1489727654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44774427 (GRCh38)
1:45240099 (GRCh37)
Canonical SPDI:: NC_000001.11:44774426:G:A
Gene:: RPS8 (Varview), SNORD55 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44774427G>A, NC_000001.10:g.45240099G>A

Select item 14887726683.

rs1488772668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44778229 (GRCh38)
1:45243901 (GRCh37)
Canonical SPDI:: NC_000001.11:44778228:C:T
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.44778229C>T, NC_000001.10:g.45243901C>T

Select item 14881255104.

rs1488125510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:44779042 (GRCh38)
1:45244714 (GRCh37)
Canonical SPDI:: NC_000001.11:44779041:T:C
Gene:: RPS8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44779042T>C, NC_000001.10:g.45244714T>C

Select item 14875422395.

rs1487542239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:44775124 (GRCh38)
1:45240796 (GRCh37)
Canonical SPDI:: NC_000001.11:44775123:G:T
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44775124G>T, NC_000001.10:g.45240796G>T

Select item 14873776886.

rs1487377688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:44777506 (GRCh38)
1:45243178 (GRCh37)
Canonical SPDI:: NC_000001.11:44777502:GAGAG:GAG
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.44777504AG[1], NC_000001.10:g.45243176AG[1]

Select item 14868799947.

rs1486879994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:44775788 (GRCh38)
1:45241460 (GRCh37)
Canonical SPDI:: NC_000001.11:44775787:G:A,NC_000001.11:44775787:G:C
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.44775788G>A, NC_000001.11:g.44775788G>C, NC_000001.10:g.45241460G>A, NC_000001.10:g.45241460G>C

Select item 14852073138.

rs1485207313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44774606 (GRCh38)
1:45240278 (GRCh37)
Canonical SPDI:: NC_000001.11:44774605:C:T
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.44774606C>T, NC_000001.10:g.45240278C>T

Select item 14849188699.

rs1484918869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:44774961 (GRCh38)
1:45240633 (GRCh37)
Canonical SPDI:: NC_000001.11:44774960:A:G
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44774961A>G, NC_000001.10:g.45240633A>G

Select item 148430320310.

rs1484303203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44777622 (GRCh38)
1:45243294 (GRCh37)
Canonical SPDI:: NC_000001.11:44777621:C:T
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44777622C>T, NC_000001.10:g.45243294C>T, NM_001012.2:c.220C>T, NM_001012.1:c.220C>T, NP_001003.1:p.Arg74Cys

Select item 148396212811.

rs1483962128 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:44777457 (GRCh38)
1:45243129 (GRCh37)
Canonical SPDI:: NC_000001.11:44777456:A:
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.44777457del, NC_000001.10:g.45243129del

Select item 148363983912.

rs1483639839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:44776356 (GRCh38)
1:45242028 (GRCh37)
Canonical SPDI:: NC_000001.11:44776355:G:C
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview), SNORD38A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44776356G>C, NC_000001.10:g.45242028G>C

Select item 148328820913.

rs1483288209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44777260 (GRCh38)
1:45242932 (GRCh37)
Canonical SPDI:: NC_000001.11:44777259:G:A
Gene:: RPS8 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.44777260G>A, NC_000001.10:g.45242932G>A

Select item 148313836214.

rs1483138362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:44774846 (GRCh38)
1:45240518 (GRCh37)
Canonical SPDI:: NC_000001.11:44774845:T:G
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44774846T>G, NC_000001.10:g.45240518T>G

Select item 148266029015.

rs1482660290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:44775243 (GRCh38)
1:45240915 (GRCh37)
Canonical SPDI:: NC_000001.11:44775242:A:T
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (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:: NC_000001.11:g.44775243A>T, NC_000001.10:g.45240915A>T

Select item 148233014516.

rs1482330145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44774789 (GRCh38)
1:45240461 (GRCh37)
Canonical SPDI:: NC_000001.11:44774788:G:A
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.44774789G>A, NC_000001.10:g.45240461G>A

Select item 148229381017.

rs1482293810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44775989 (GRCh38)
1:45241661 (GRCh37)
Canonical SPDI:: NC_000001.11:44775988:C:T
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview), SNORD38A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000001.11:g.44775989C>T, NC_000001.10:g.45241661C>T

Select item 148163988618.

rs1481639886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:44776376 (GRCh38)
1:45242048 (GRCh37)
Canonical SPDI:: NC_000001.11:44776375:G:T
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview), SNORD38A (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.44776376G>T, NC_000001.10:g.45242048G>T

Select item 148095045019.

rs1480950450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:44776564 (GRCh38)
1:45242236 (GRCh37)
Canonical SPDI:: NC_000001.11:44776563:A:G
Gene:: RPS8 (Varview), SNORD46 (Varview), SNORD38A (Varview), SNORD38B (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.0003/1 (KOREAN)
G=0.0005/1 (Korea1K)
HGVS:: NC_000001.11:g.44776564A>G, NC_000001.10:g.45242236A>G, NR_000024.2:n.73A>G, NR_002747.1:n.73A>G

Select item 148078440720.

rs1480784407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:44775932 (GRCh38)
1:45241604 (GRCh37)
Canonical SPDI:: NC_000001.11:44775931:G:C
Gene:: RPS8 (Varview), SNORD55 (Varview), SNORD46 (Varview), SNORD38A (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44775932G>C, NC_000001.10:g.45241604G>C, NR_000015.2:n.68G>C, NR_002740.1:n.68G>C

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity