SNP Links for Nucleotide (Select 74315923) - SNP

Links from Nucleotide

Items: 1 to 20 of 33

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Select item 14529904881.

rs1452990488 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 11:62853730 (GRCh38)
11:62621202 (GRCh37)
Canonical SPDI:: NC_000011.10:62853726:ACAAACA:ACA
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62853730_62853733del, NC_000011.9:g.62621202_62621205del

Select item 14488445162.

rs1448844516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62853694 (GRCh38)
11:62621166 (GRCh37)
Canonical SPDI:: NC_000011.10:62853693:T:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853694T>C, NC_000011.9:g.62621166T>C, NR_002561.1:n.39A>G

Select item 14019624323.

rs1401962432 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:62853717 (GRCh38)
11:62621190 (GRCh37)
Canonical SPDI:: NC_000011.10:62853717:T:TT
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853718dup, NC_000011.9:g.62621190dup, NR_002561.1:n.15dup

Select item 13383905634.

rs1338390563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62853727 (GRCh38)
11:62621199 (GRCh37)
Canonical SPDI:: NC_000011.10:62853726:A:G
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853727A>G, NC_000011.9:g.62621199A>G, NR_002561.1:n.6T>C

Select item 13368465915.

rs1336846591 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGAAC>- [Show Flanks]
Chromosome:: 11:62853702 (GRCh38)
11:62621174 (GRCh37)
Canonical SPDI:: NC_000011.10:62853700:CCGAAC:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62853702_62853706del, NC_000011.9:g.62621174_62621178del, NR_002561.1:n.28_32del

Select item 12849622976.

rs1284962297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62853693 (GRCh38)
11:62621165 (GRCh37)
Canonical SPDI:: NC_000011.10:62853692:G:A,NC_000011.10:62853692:G:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62853693G>A, NC_000011.10:g.62853693G>C, NC_000011.9:g.62621165G>A, NC_000011.9:g.62621165G>C, NR_002561.1:n.40C>T, NR_002561.1:n.40C>G

Select item 12340693757.

rs1234069375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62853683 (GRCh38)
11:62621155 (GRCh37)
Canonical SPDI:: NC_000011.10:62853682:T:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62853683T>C, NC_000011.9:g.62621155T>C, NR_002561.1:n.50A>G

Select item 12216722268.

rs1221672226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:62853687 (GRCh38)
11:62621159 (GRCh37)
Canonical SPDI:: NC_000011.10:62853686:C:A
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853687C>A, NC_000011.9:g.62621159C>A, NR_002561.1:n.46G>T

Select item 11597932509.

rs1159793250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62853713 (GRCh38)
11:62621185 (GRCh37)
Canonical SPDI:: NC_000011.10:62853712:C:T
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853713C>T, NC_000011.9:g.62621185C>T, NR_002561.1:n.20G>A

Select item 101118609710.

rs1011186097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62853723 (GRCh38)
11:62621195 (GRCh37)
Canonical SPDI:: NC_000011.10:62853722:C:T
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.62853723C>T, NC_000011.9:g.62621195C>T, NR_002561.1:n.10G>A

Select item 94780805911.

rs947808059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62853716 (GRCh38)
11:62621188 (GRCh37)
Canonical SPDI:: NC_000011.10:62853715:T:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000017/4 (GnomAD_exomes)
C=0.000027/3 (ExAC)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.62853716T>C, NC_000011.9:g.62621188T>C, NR_002561.1:n.17A>G

Select item 89091714012.

rs890917140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:62853690 (GRCh38)
11:62621162 (GRCh37)
Canonical SPDI:: NC_000011.10:62853689:C:G,NC_000011.10:62853689:C:T
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000018/2 (ExAC)
G=0.000042/11 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000011.10:g.62853690C>G, NC_000011.10:g.62853690C>T, NC_000011.9:g.62621162C>G, NC_000011.9:g.62621162C>T, NR_002561.1:n.43G>C, NR_002561.1:n.43G>A

Select item 78168707513.

rs781687075 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCGAACGAGATTCCATGTAAGTCATCA>- [Show Flanks]
Chromosome:: 11:62853700 (GRCh38)
11:62621172 (GRCh37)
Canonical SPDI:: NC_000011.10:62853690:AAGTCATCAGCCGAACGAGATTCCATGTAAGTCATCA:AAGTCATCA
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGTCATCA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000009/1 (ExAC)
-=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853700_62853727del, NC_000011.9:g.62621172_62621199del, NR_002561.1:n.15_42del

Select item 78113585914.

rs781135859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62853674 (GRCh38)
11:62621146 (GRCh37)
Canonical SPDI:: NC_000011.10:62853673:T:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000009/1 (ExAC)
HGVS:: NC_000011.10:g.62853674T>C, NC_000011.9:g.62621146T>C, NR_002561.1:n.59A>G

Select item 77928402815.

rs779284028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62853699 (GRCh38)
11:62621171 (GRCh37)
Canonical SPDI:: NC_000011.10:62853698:A:G
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000009/1 (ExAC)
HGVS:: NC_000011.10:g.62853699A>G, NC_000011.9:g.62621171A>G, NR_002561.1:n.34T>C

Select item 77527877316.

rs775278773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:62853711 (GRCh38)
11:62621183 (GRCh37)
Canonical SPDI:: NC_000011.10:62853710:T:C,NC_000011.10:62853710:T:G
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000018/2 (ExAC)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.62853711T>C, NC_000011.10:g.62853711T>G, NC_000011.9:g.62621183T>C, NC_000011.9:g.62621183T>G, NR_002561.1:n.22A>G, NR_002561.1:n.22A>C

Select item 77142800817.

rs771428008 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 11:62853666 (GRCh38)
11:62621138 (GRCh37)
Canonical SPDI:: NC_000011.10:62853663:AAAA:AA,NC_000011.10:62853663:AAAA:AAA
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.000066/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000027/3 (ExAC)
-=0.000156/1 (1000Genomes)
-=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.62853666_62853667del, NC_000011.10:g.62853667del, NC_000011.9:g.62621138_62621139del, NC_000011.9:g.62621139del, NR_002561.1:n.68_69del, NR_002561.1:n.69del

Select item 76961118318.

rs769611183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62853707 (GRCh38)
11:62621179 (GRCh37)
Canonical SPDI:: NC_000011.10:62853706:G:A
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000022/5 (GnomAD_exomes)
A=0.000027/3 (ExAC)
HGVS:: NC_000011.10:g.62853707G>A, NC_000011.9:g.62621179G>A, NR_002561.1:n.26C>T

Select item 76889443419.

rs768894434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:62853681 (GRCh38)
11:62621153 (GRCh37)
Canonical SPDI:: NC_000011.10:62853680:T:G
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000009/1 (ExAC)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853681T>G, NC_000011.9:g.62621153T>G, NR_002561.1:n.52A>C

Select item 76380833020.

rs763808330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:62853720 (GRCh38)
11:62621192 (GRCh37)
Canonical SPDI:: NC_000011.10:62853719:A:T
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000009/1 (ExAC)
HGVS:: NC_000011.10:g.62853720A>T, NC_000011.9:g.62621192A>T, NR_002561.1:n.13T>A

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