SNP Links for Gene (Select 574042) - SNP

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Items: 1 to 20 of 1199

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Select item 14915068101.

rs1491506810 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 16:1962463 (GRCh38)
16:2012464 (GRCh37)
Canonical SPDI:: NC_000016.10:1962458:GAGAGA:GAGA
Gene:: NDUFB10 (Varview), RPS2 (Varview), SNORA10 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000017/2 (ExAC)
HGVS:: NC_000016.10:g.1962459GA[2], NC_000016.9:g.2012460GA[2], NW_025791799.1:g.28607GA[2], NR_002327.1:n.3TC[2]

Select item 14907736422.

rs1490773642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1964381 (GRCh38)
16:2014382 (GRCh37)
Canonical SPDI:: NC_000016.10:1964380:G:A
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1964381G>A, NC_000016.9:g.2014382G>A, NG_080303.1:g.254G>A, NW_025791799.1:g.30529G>A

Select item 14906101253.

rs1490610125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1963808 (GRCh38)
16:2013809 (GRCh37)
Canonical SPDI:: NC_000016.10:1963807:A:G
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1963808A>G, NC_000016.9:g.2013809A>G, NW_025791799.1:g.29956A>G

Select item 14895553794.

rs1489555379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1962537 (GRCh38)
16:2012538 (GRCh37)
Canonical SPDI:: NC_000016.10:1962536:G:A
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1962537G>A, NC_000016.9:g.2012538G>A, NW_025791799.1:g.28685G>A, NM_002952.4:c.669C>T, NM_002952.3:c.669C>T, NM_001080822.1:c.27C>T

Select item 14874495295.

rs1487449529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1963424 (GRCh38)
16:2013425 (GRCh37)
Canonical SPDI:: NC_000016.10:1963423:T:C
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.1963424T>C, NC_000016.9:g.2013425T>C, NW_025791799.1:g.29572T>C

Select item 14857802346.

rs1485780234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:1964039 (GRCh38)
16:2014040 (GRCh37)
Canonical SPDI:: NC_000016.10:1964038:T:G
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000016.10:g.1964039T>G, NC_000016.9:g.2014040T>G, NW_025791799.1:g.30187T>G

Select item 14854836047.

rs1485483604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 16:1962076 (GRCh38)
16:2012077 (GRCh37)
Canonical SPDI:: NC_000016.10:1962075:T:A,NC_000016.10:1962075:T:G
Gene:: NDUFB10 (Varview), RPS2 (Varview), SNORA10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1962076T>A, NC_000016.10:g.1962076T>G, NC_000016.9:g.2012077T>A, NC_000016.9:g.2012077T>G, NW_025791799.1:g.28224T>A, NW_025791799.1:g.28224T>G, NM_002952.4:c.*22A>T, NM_002952.4:c.*22A>C, NM_002952.3:c.*22A>T, NM_002952.3:c.*22A>C, NM_001080822.1:c.*22A>T, NM_001080822.1:c.*22A>C

Select item 14836231968.

rs1483623196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:1961992 (GRCh38)
16:2011993 (GRCh37)
Canonical SPDI:: NC_000016.10:1961991:G:C
Gene:: NDUFB10 (Varview), RPS2 (Varview), SNORA10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1961992G>C, NC_000016.9:g.2011993G>C, NW_025791799.1:g.28140G>C

Select item 14822086149.

rs1482208614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1962618 (GRCh38)
16:2012619 (GRCh37)
Canonical SPDI:: NC_000016.10:1962617:G:A
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_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=0.000071/1 (TOMMO)
HGVS:: NC_000016.10:g.1962618G>A, NC_000016.9:g.2012619G>A, NW_025791799.1:g.28766G>A, NM_002952.4:c.588C>T, NM_002952.3:c.588C>T, NM_001080822.1:c.-55C>T

Select item 148185949210.

rs1481859492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:1963873 (GRCh38)
16:2013874 (GRCh37)
Canonical SPDI:: NC_000016.10:1963872:T:G
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.1963873T>G, NC_000016.9:g.2013874T>G, NW_025791799.1:g.30021T>G

Select item 148133594011.

rs1481335940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1964321 (GRCh38)
16:2014322 (GRCh37)
Canonical SPDI:: NC_000016.10:1964320:C:T
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1964321C>T, NC_000016.9:g.2014322C>T, NG_080303.1:g.194C>T, NW_025791799.1:g.30469C>T, NM_002952.4:c.222G>A, NM_002952.3:c.222G>A

Select item 148100825212.

rs1481008252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1963750 (GRCh38)
16:2013751 (GRCh37)
Canonical SPDI:: NC_000016.10:1963749:C:T
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1963750C>T, NC_000016.9:g.2013751C>T, NW_025791799.1:g.29898C>T

Select item 148016364313.

rs1480163643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1963391 (GRCh38)
16:2013392 (GRCh37)
Canonical SPDI:: NC_000016.10:1963390:G:A
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.1963391G>A, NC_000016.9:g.2013392G>A, NW_025791799.1:g.29539G>A

Select item 147974931714.

rs1479749317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1961922 (GRCh38)
16:2011923 (GRCh37)
Canonical SPDI:: NC_000016.10:1961921:C:T
Gene:: NDUFB10 (Varview), RPS2 (Varview), SNORA10 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1961922C>T, NC_000016.9:g.2011923C>T, NW_025791799.1:g.28070C>T, NM_004548.3:c.*16C>T, NM_004548.2:c.*16C>T

Select item 147911161215.

rs1479111612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1961982 (GRCh38)
16:2011983 (GRCh37)
Canonical SPDI:: NC_000016.10:1961981:T:C
Gene:: NDUFB10 (Varview), RPS2 (Varview), SNORA10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000016.10:g.1961982T>C, NC_000016.9:g.2011983T>C, NW_025791799.1:g.28130T>C

Select item 147789237016.

rs1477892370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:1963306 (GRCh38)
16:2013307 (GRCh37)
Canonical SPDI:: NC_000016.10:1963305:A:T
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.00021/4 (TOMMO)
HGVS:: NC_000016.10:g.1963306A>T, NC_000016.9:g.2013307A>T, NW_025791799.1:g.29454A>T

Select item 147712791517.

rs1477127915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1963310 (GRCh38)
16:2013311 (GRCh37)
Canonical SPDI:: NC_000016.10:1963309:T:C
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1963310T>C, NC_000016.9:g.2013311T>C, NW_025791799.1:g.29458T>C

Select item 147632528218.

rs1476325282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 16:1963598 (GRCh38)
16:2013599 (GRCh37)
Canonical SPDI:: NC_000016.10:1963597:T:A,NC_000016.10:1963597:T:C,NC_000016.10:1963597:T:G
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1963598T>A, NC_000016.10:g.1963598T>C, NC_000016.10:g.1963598T>G, NC_000016.9:g.2013599T>A, NC_000016.9:g.2013599T>C, NC_000016.9:g.2013599T>G, NW_025791799.1:g.29746T>A, NW_025791799.1:g.29746T>C, NW_025791799.1:g.29746T>G

Select item 147569943719.

rs1475699437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:1963013 (GRCh38)
16:2013014 (GRCh37)
Canonical SPDI:: NC_000016.10:1963012:C:G
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA10 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.1963013C>G, NC_000016.9:g.2013014C>G, NW_025791799.1:g.29161C>G, NR_002326.1:n.94G>C

Select item 147544056420.

rs1475440564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:1962028 (GRCh38)
16:2012029 (GRCh37)
Canonical SPDI:: NC_000016.10:1962027:C:G,NC_000016.10:1962027:C:T
Gene:: NDUFB10 (Varview), RPS2 (Varview), SNORA10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.1962028C>G, NC_000016.10:g.1962028C>T, NC_000016.9:g.2012029C>G, NC_000016.9:g.2012029C>T, NW_025791799.1:g.28176C>G, NW_025791799.1:g.28176C>T

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