SNP Links for Gene (Select 6044) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 771

<< First< Prev

Page of 39

Next >Last >>

Select item 14910237021.

rs1491023702 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 3:39409099 (GRCh38)
3:39450591 (GRCh37)
Canonical SPDI:: NC_000003.12:39409099::AG
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AG=0.00008/1 (ALFA)
AG=0.00017/14 (GnomAD)
HGVS:: NC_000003.12:g.39409099_39409100insAG, NC_000003.11:g.39450590_39450591insAG, NG_033234.1:g.7387_7388insAG

Select item 14910135652.

rs1491013565 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:39409100 (GRCh38)
3:39450591 (GRCh37)
Canonical SPDI:: NC_000003.12:39409098:AGA:A
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000003.12:g.39409100_39409101del, NC_000003.11:g.39450591_39450592del, NG_033234.1:g.7388_7389del

Select item 14908901203.

rs1490890120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:39410964 (GRCh38)
3:39452455 (GRCh37)
Canonical SPDI:: NC_000003.12:39410963:C:T
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.39410964C>T, NC_000003.11:g.39452455C>T, NG_033234.1:g.9252C>T, NM_002295.6:c.463C>T, NM_002295.5:c.463C>T, NM_002295.4:c.463C>T, NM_001304288.2:c.478C>T, NM_001304288.1:c.478C>T, NM_001012321.1:c.463C>T, NP_002286.2:p.Arg155Cys, NP_001291217.1:p.Arg160Cys

Select item 14891261214.

rs1489126121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:39409980 (GRCh38)
3:39451471 (GRCh37)
Canonical SPDI:: NC_000003.12:39409979:C:T
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.39409980C>T, NC_000003.11:g.39451471C>T, NG_033234.1:g.8268C>T

Select item 14872008545.

rs1487200854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:39409668 (GRCh38)
3:39451159 (GRCh37)
Canonical SPDI:: NC_000003.12:39409667:A:G
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000354/6 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.000685/2 (KOREAN)
HGVS:: NC_000003.12:g.39409668A>G, NC_000003.11:g.39451159A>G, NG_033234.1:g.7956A>G

Select item 14871646426.

rs1487164642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:39409223 (GRCh38)
3:39450714 (GRCh37)
Canonical SPDI:: NC_000003.12:39409222:C:T
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.39409223C>T, NC_000003.11:g.39450714C>T, NG_033234.1:g.7511C>T

Select item 14870456407.

rs1487045640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:39411202 (GRCh38)
3:39452693 (GRCh37)
Canonical SPDI:: NC_000003.12:39411201:C:T
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.39411202C>T, NC_000003.11:g.39452693C>T, NG_033234.1:g.9490C>T, NR_002324.1:n.149C>T

Select item 14857738168.

rs1485773816 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTTTT [Show Flanks]
Chromosome:: 3:39409203 (GRCh38)
3:39450695 (GRCh37)
Canonical SPDI:: NC_000003.12:39409203:TTTT:TTTTTCTTTT
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: TTTTTC=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.39409204_39409207T[5]CTTTT[1], NC_000003.11:g.39450695_39450698T[5]CTTTT[1], NG_033234.1:g.7492_7495T[5]CTTTT[1]

Select item 14855302279.

rs1485530227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:39410410 (GRCh38)
3:39451901 (GRCh37)
Canonical SPDI:: NC_000003.12:39410409:A:G
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.39410410A>G, NC_000003.11:g.39451901A>G, NG_033234.1:g.8698A>G

Select item 148485885010.

rs1484858850 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:39410124 (GRCh38)
3:39451615 (GRCh37)
Canonical SPDI:: NC_000003.12:39410122:AAA:A
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.39410124_39410125del, NC_000003.11:g.39451615_39451616del, NG_033234.1:g.8412_8413del

Select item 148459773111.

rs1484597731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:39410540 (GRCh38)
3:39452031 (GRCh37)
Canonical SPDI:: NC_000003.12:39410539:G:C
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000003.12:g.39410540G>C, NC_000003.11:g.39452031G>C, NG_033234.1:g.8828G>C

Select item 148263697212.

rs1482636972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:39409107 (GRCh38)
3:39450598 (GRCh37)
Canonical SPDI:: NC_000003.12:39409106:G:A,NC_000003.12:39409106:G:C
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.00012/2 (TOMMO)
A=0.01643/48 (KOREAN)
HGVS:: NC_000003.12:g.39409107G>A, NC_000003.12:g.39409107G>C, NC_000003.11:g.39450598G>A, NC_000003.11:g.39450598G>C, NG_033234.1:g.7395G>A, NG_033234.1:g.7395G>C

Select item 148148800613.

rs1481488006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:39410906 (GRCh38)
3:39452397 (GRCh37)
Canonical SPDI:: NC_000003.12:39410905:G:A
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.39410906G>A, NC_000003.11:g.39452397G>A, NG_033234.1:g.9194G>A, NM_002295.6:c.405G>A, NM_002295.5:c.405G>A, NM_002295.4:c.405G>A, NM_001304288.2:c.420G>A, NM_001304288.1:c.420G>A, NM_001012321.1:c.405G>A

Select item 147984913614.

rs1479849136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:39411307 (GRCh38)
3:39452798 (GRCh37)
Canonical SPDI:: NC_000003.12:39411306:T:G
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.39411307T>G, NC_000003.11:g.39452798T>G, NG_033234.1:g.9595T>G

Select item 147918679815.

rs1479186798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:39409720 (GRCh38)
3:39451211 (GRCh37)
Canonical SPDI:: NC_000003.12:39409719:C:G,NC_000003.12:39409719:C:T
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.39409720C>G, NC_000003.12:g.39409720C>T, NC_000003.11:g.39451211C>G, NC_000003.11:g.39451211C>T, NG_033234.1:g.8008C>G, NG_033234.1:g.8008C>T

Select item 147877120816.

rs1478771208 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:39411042 (GRCh38)
3:39452533 (GRCh37)
Canonical SPDI:: NC_000003.12:39411041:AAAAAA:AAAAA
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.39411047del, NC_000003.11:g.39452538del, NG_033234.1:g.9335del

Select item 147826645817.

rs1478266458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:39409075 (GRCh38)
3:39450566 (GRCh37)
Canonical SPDI:: NC_000003.12:39409074:A:T
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.39409075A>T, NC_000003.11:g.39450566A>T, NG_033234.1:g.7363A>T

Select item 147592500318.

rs1475925003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:39410550 (GRCh38)
3:39452041 (GRCh37)
Canonical SPDI:: NC_000003.12:39410549:A:G
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.39410550A>G, NC_000003.11:g.39452041A>G, NG_033234.1:g.8838A>G

Select item 147517817219.

rs1475178172 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTCCAG>- [Show Flanks]
Chromosome:: 3:39411444 (GRCh38)
3:39452935 (GRCh37)
Canonical SPDI:: NC_000003.12:39411439:CCAGTGTCCAG:CCAG
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.39411444_39411450del, NC_000003.11:g.39452935_39452941del, NG_033234.1:g.9732_9738del

Select item 147516261820.

rs1475162618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:39411134 (GRCh38)
3:39452625 (GRCh37)
Canonical SPDI:: NC_000003.12:39411133:G:A
Gene:: RPSA (Varview), SNORA62 (Varview)
Functional Consequence:: non_coding_transcript_variant,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:: NC_000003.12:g.39411134G>A, NC_000003.11:g.39452625G>A, NG_033234.1:g.9422G>A, NR_002324.1:n.81G>A

<< First< Prev

Page of 39

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 6044) (771)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: