SNP Links for Gene (Select 84546) - SNP

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Select item 14899348331.

rs1489934833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49496875 (GRCh38)
19:50000132 (GRCh37)
Canonical SPDI:: NC_000019.10:49496874:G:A
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000019.10:g.49496875G>A, NC_000019.9:g.50000132G>A

Select item 14898887822.

rs1489888782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:49496228 (GRCh38)
19:49999485 (GRCh37)
Canonical SPDI:: NC_000019.10:49496227:G:A,NC_000019.10:49496227:G:T
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.49496228G>A, NC_000019.10:g.49496228G>T, NC_000019.9:g.49999485G>A, NC_000019.9:g.49999485G>T

Select item 14869385713.

rs1486938571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49497548 (GRCh38)
19:50000805 (GRCh37)
Canonical SPDI:: NC_000019.10:49497547:A:G
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49497548A>G, NC_000019.9:g.50000805A>G, NM_001015.5:c.176A>G, NM_001015.4:c.176A>G, NP_001006.1:p.Lys59Arg

Select item 14868563564.

rs1486856356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:49496158 (GRCh38)
19:49999415 (GRCh37)
Canonical SPDI:: NC_000019.10:49496157:C:A,NC_000019.10:49496157:C:G
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49496158C>A, NC_000019.10:g.49496158C>G, NC_000019.9:g.49999415C>A, NC_000019.9:g.49999415C>G

Select item 14861195915.

rs1486119591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:49495825 (GRCh38)
19:49999082 (GRCh37)
Canonical SPDI:: NC_000019.10:49495824:G:C,NC_000019.10:49495824:G:T
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00006/1 (TOMMO)
C=0.00034/1 (KOREAN)
HGVS:: NC_000019.10:g.49495825G>C, NC_000019.10:g.49495825G>T, NC_000019.9:g.49999082G>C, NC_000019.9:g.49999082G>T

Select item 14849166926.

rs1484916692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49498176 (GRCh38)
19:50001433 (GRCh37)
Canonical SPDI:: NC_000019.10:49498175:C:G
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49498176C>G, NC_000019.9:g.50001433C>G

Select item 14840324177.

rs1484032417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49497745 (GRCh38)
19:50001002 (GRCh37)
Canonical SPDI:: NC_000019.10:49497744:G:A
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49497745G>A, NC_000019.9:g.50001002G>A, NR_001285.1:n.27G>A

Select item 14829738748.

rs1482973874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49498278 (GRCh38)
19:50001535 (GRCh37)
Canonical SPDI:: NC_000019.10:49498277:A:G
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.49498278A>G, NC_000019.9:g.50001535A>G

Select item 14819325739.

rs1481932573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:49497792 (GRCh38)
19:50001049 (GRCh37)
Canonical SPDI:: NC_000019.10:49497791:A:T
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.49497792A>T, NC_000019.9:g.50001049A>T, NR_001285.1:n.74A>T

Select item 147929022710.

rs1479290227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:49497886 (GRCh38)
19:50001143 (GRCh37)
Canonical SPDI:: NC_000019.10:49497885:G:C,NC_000019.10:49497885:G:T
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49497886G>C, NC_000019.10:g.49497886G>T, NC_000019.9:g.50001143G>C, NC_000019.9:g.50001143G>T

Select item 147790769311.

rs1477907693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49497052 (GRCh38)
19:50000309 (GRCh37)
Canonical SPDI:: NC_000019.10:49497051:T:G
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49497052T>G, NC_000019.9:g.50000309T>G

Select item 147722116612.

rs1477221166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49498086 (GRCh38)
19:50001343 (GRCh37)
Canonical SPDI:: NC_000019.10:49498085:T:C
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49498086T>C, NC_000019.9:g.50001343T>C

Select item 147719031813.

rs1477190318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49497809 (GRCh38)
19:50001066 (GRCh37)
Canonical SPDI:: NC_000019.10:49497808:G:A,NC_000019.10:49497808:G:C
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49497809G>A, NC_000019.10:g.49497809G>C, NC_000019.9:g.50001066G>A, NC_000019.9:g.50001066G>C

Select item 147633371114.

rs1476333711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49496291 (GRCh38)
19:49999548 (GRCh37)
Canonical SPDI:: NC_000019.10:49496290:A:G
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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:: NC_000019.10:g.49496291A>G, NC_000019.9:g.49999548A>G

Select item 147492797015.

rs1474927970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49497922 (GRCh38)
19:50001179 (GRCh37)
Canonical SPDI:: NC_000019.10:49497921:G:A
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49497922G>A, NC_000019.9:g.50001179G>A, NM_001015.5:c.229G>A, NM_001015.4:c.229G>A, NP_001006.1:p.Val77Met

Select item 147408629016.

rs1474086290 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:49497119 (GRCh38)
19:50000376 (GRCh37)
Canonical SPDI:: NC_000019.10:49497118:GGG:GG
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.49497121del, NC_000019.9:g.50000378del

Select item 147316084417.

rs1473160844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49498037 (GRCh38)
19:50001294 (GRCh37)
Canonical SPDI:: NC_000019.10:49498036:C:T
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49498037C>T, NC_000019.9:g.50001294C>T, NM_001015.5:c.344C>T, NM_001015.4:c.344C>T, NP_001006.1:p.Pro115Leu

Select item 147137717518.

rs1471377175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49497752 (GRCh38)
19:50001009 (GRCh37)
Canonical SPDI:: NC_000019.10:49497751:A:G
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49497752A>G, NC_000019.9:g.50001009A>G, NR_001285.1:n.34A>G

Select item 147102532319.

rs1471025323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49496696 (GRCh38)
19:49999953 (GRCh37)
Canonical SPDI:: NC_000019.10:49496695:C:T
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.49496696C>T, NC_000019.9:g.49999953C>T

Select item 147062304620.

rs1470623046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49495791 (GRCh38)
19:49999048 (GRCh37)
Canonical SPDI:: NC_000019.10:49495790:G:A
Gene:: RPS11 (Varview), SNORD35B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49495791G>A, NC_000019.9:g.49999048G>A

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