SNP Links for Gene (Select 6187) - SNP

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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 14910409392.

rs1491040939 has merged into rs11405496 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:1966586 (GRCh38)
16:2016587 (GRCh37)
Canonical SPDI:: NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:1966578:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPS2 (Varview), RNF151 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.20038/743 (TWINSUK)
T=0.20446/788 (ALSPAC)
T=0.24062/1205 (1000Genomes)
T=0.27167/163 (NorthernSweden)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000016.10:g.1966586_1966591del, NC_000016.10:g.1966587_1966591del, NC_000016.10:g.1966590_1966591del, NC_000016.10:g.1966591del, NC_000016.10:g.1966591dup, NC_000016.10:g.1966590_1966591dup, NC_000016.10:g.1966589_1966591dup, NC_000016.10:g.1966588_1966591dup, NC_000016.10:g.1966586_1966591dup, NC_000016.10:g.1966580_1966591dup, NC_000016.9:g.2016587_2016592del, NC_000016.9:g.2016588_2016592del, NC_000016.9:g.2016591_2016592del, NC_000016.9:g.2016592del, NC_000016.9:g.2016592dup, NC_000016.9:g.2016591_2016592dup, NC_000016.9:g.2016590_2016592dup, NC_000016.9:g.2016589_2016592dup, NC_000016.9:g.2016587_2016592dup, NC_000016.9:g.2016581_2016592dup, NW_025791799.1:g.32734_32739del, NW_025791799.1:g.32735_32739del, NW_025791799.1:g.32738_32739del, NW_025791799.1:g.32739del, NW_025791799.1:g.32739dup, NW_025791799.1:g.32738_32739dup, NW_025791799.1:g.32737_32739dup, NW_025791799.1:g.32736_32739dup, NW_025791799.1:g.32734_32739dup, NW_025791799.1:g.32728_32739dup

Select item 14910175553.

rs1491017555 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:1961658 (GRCh38)
16:2011659 (GRCh37)
Canonical SPDI:: NC_000016.10:1961657:AA:
Gene:: NDUFB10 (Varview), RPS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.012/201 (TOMMO)
HGVS:: NC_000016.10:g.1961658_1961659del, NC_000016.9:g.2011659_2011660del, NW_025791799.1:g.27806_27807del

Select item 14907736424.

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 14906101255.

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 14899048036.

rs1489904803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1964939 (GRCh38)
16:2014940 (GRCh37)
Canonical SPDI:: NC_000016.10:1964938:T:C
Gene:: RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.1964939T>C, NC_000016.9:g.2014940T>C, NW_025791799.1:g.31087T>C

Select item 14897896077.

rs1489789607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1965541 (GRCh38)
16:2015542 (GRCh37)
Canonical SPDI:: NC_000016.10:1965540:C:T
Gene:: RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000025/1 (GnomAD)
HGVS:: NC_000016.10:g.1965541C>T, NC_000016.9:g.2015542C>T, NW_025791799.1:g.31689C>T

Select item 14895553798.

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 14874495299.

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 148651307810.

rs1486513078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1965464 (GRCh38)
16:2015465 (GRCh37)
Canonical SPDI:: NC_000016.10:1965463:T:C
Gene:: RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_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.1965464T>C, NC_000016.9:g.2015465T>C, NW_025791799.1:g.31612T>C, NR_003142.2:n.193T>C

Select item 148578023411.

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 148573675812.

rs1485736758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1961833 (GRCh38)
16:2011834 (GRCh37)
Canonical SPDI:: NC_000016.10:1961832:G:A,NC_000016.10:1961832:G:C
Gene:: NDUFB10 (Varview), RPS2 (Varview), SNORA10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000016.10:g.1961833G>A, NC_000016.10:g.1961833G>C, NC_000016.9:g.2011834G>A, NC_000016.9:g.2011834G>C, NW_025791799.1:g.27981G>A, NW_025791799.1:g.27981G>C, NM_004548.3:c.446G>A, NM_004548.3:c.446G>C, NM_004548.2:c.446G>A, NM_004548.2:c.446G>C, NP_004539.1:p.Cys149Tyr, NP_004539.1:p.Cys149Ser

Select item 148568106313.

rs1485681063 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:1966098 (GRCh38)
16:2016100 (GRCh37)
Canonical SPDI:: NC_000016.10:1966098:GG:GGG
Gene:: RPS2 (Varview), RNF151 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.1966100dup, NC_000016.9:g.2016101dup, NW_025791799.1:g.32248dup

Select item 148566653314.

rs1485666533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1965206 (GRCh38)
16:2015207 (GRCh37)
Canonical SPDI:: NC_000016.10:1965205:C:T
Gene:: RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1965206C>T, NC_000016.9:g.2015207C>T, NW_025791799.1:g.31354C>T, NR_003020.1:n.23C>T

Select item 148556891015.

rs1485568910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1964947 (GRCh38)
16:2014948 (GRCh37)
Canonical SPDI:: NC_000016.10:1964946:G:A
Gene:: RPS2 (Varview), SNORA64 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000016.10:g.1964947G>A, NC_000016.9:g.2014948G>A, NW_025791799.1:g.31095G>A

Select item 148548360416.

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 148465253217.

rs1484652532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1966349 (GRCh38)
16:2016350 (GRCh37)
Canonical SPDI:: NC_000016.10:1966348:C:T
Gene:: RPS2 (Varview), RNF151 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000016.10:g.1966349C>T, NC_000016.9:g.2016350C>T, NW_025791799.1:g.32497C>T

Select item 148464384918.

rs1484643849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:1965318 (GRCh38)
16:2015319 (GRCh37)
Canonical SPDI:: NC_000016.10:1965317:C:A
Gene:: RPS2 (Varview), RNF151 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_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.1965318C>A, NC_000016.9:g.2015319C>A, NW_025791799.1:g.31466C>A

Select item 148362319619.

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 148253993820.

rs1482539938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1964841 (GRCh38)
16:2014842 (GRCh37)
Canonical SPDI:: NC_000016.10:1964840:G:A
Gene:: RPS2 (Varview), SNORA64 (Varview), SNORA78 (Varview), SNHG9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1964841G>A, NC_000016.9:g.2014842G>A, NW_025791799.1:g.30989G>A

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