SNP Links for Nucleotide (Select 74315926) - SNP

Links from Nucleotide

Items: 1 to 20 of 25

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Select item 14685399961.

rs1468539996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62853354 (GRCh38)
11:62620826 (GRCh37)
Canonical SPDI:: NC_000011.10:62853353:C:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.62853354C>T, NC_000011.9:g.62620826C>T, NR_002560.1:n.40G>A

Select item 14382285322.

rs1438228532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62853387 (GRCh38)
11:62620859 (GRCh37)
Canonical SPDI:: NC_000011.10:62853386:A:C
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62853387A>C, NC_000011.9:g.62620859A>C, NR_002560.1:n.7T>G

Select item 14316123703.

rs1431612370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62853341 (GRCh38)
11:62620813 (GRCh37)
Canonical SPDI:: NC_000011.10:62853340:C:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.62853341C>T, NC_000011.9:g.62620813C>T, NR_002560.1:n.53G>A

Select item 13814110594.

rs1381411059 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:62853354 (GRCh38)
11:62620826 (GRCh37)
Canonical SPDI:: NC_000011.10:62853349:CACACA:CACA
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000011.10:g.62853350CA[2], NC_000011.9:g.62620822CA[2], NR_002560.1:n.39TG[2]

Select item 13732436905.

rs1373243690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62853371 (GRCh38)
11:62620843 (GRCh37)
Canonical SPDI:: NC_000011.10:62853370:C:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62853371C>T, NC_000011.9:g.62620843C>T, NR_002560.1:n.23G>A

Select item 13514934336.

rs1351493433 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:62853376 (GRCh38)
11:62620848 (GRCh37)
Canonical SPDI:: NC_000011.10:62853375:TT:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62853377del, NC_000011.9:g.62620849del, NR_002560.1:n.18del

Select item 13250816257.

rs1325081625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62853374 (GRCh38)
11:62620846 (GRCh37)
Canonical SPDI:: NC_000011.10:62853373:T:C
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853374T>C, NC_000011.9:g.62620846T>C, NR_002560.1:n.20A>G

Select item 13055509528.

rs1305550952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:62853377 (GRCh38)
11:62620849 (GRCh37)
Canonical SPDI:: NC_000011.10:62853376:T:G
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_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_000011.10:g.62853377T>G, NC_000011.9:g.62620849T>G, NR_002560.1:n.17A>C

Select item 12833064299.

rs1283306429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62853373 (GRCh38)
11:62620845 (GRCh37)
Canonical SPDI:: NC_000011.10:62853372:G:A
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853373G>A, NC_000011.9:g.62620845G>A, NR_002560.1:n.21C>T

Select item 126214821610.

rs1262148216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62853379 (GRCh38)
11:62620851 (GRCh37)
Canonical SPDI:: NC_000011.10:62853378:A:C
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853379A>C, NC_000011.9:g.62620851A>C, NR_002560.1:n.15T>G

Select item 123805494011.

rs1238054940 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAGC [Show Flanks]
Chromosome:: 11:62853374 (GRCh38)
11:62620847 (GRCh37)
Canonical SPDI:: NC_000011.10:62853374::GAGC
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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,by cluster
MAF:: GAGC=0./0 (ALFA)
GAGC=0.000004/1 (TOPMED)
GAGC=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62853374_62853375insGAGC, NC_000011.9:g.62620846_62620847insGAGC, NR_002560.1:n.19_20insGCTC

Select item 77755045612.

rs777550456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:62853388 (GRCh38)
11:62620860 (GRCh37)
Canonical SPDI:: NC_000011.10:62853387:C:A,NC_000011.10:62853387:C:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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:: A=0.000004/1 (GnomAD_exomes)
A=0.000009/1 (ExAC)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.62853388C>A, NC_000011.10:g.62853388C>T, NC_000011.9:g.62620860C>A, NC_000011.9:g.62620860C>T, NR_002560.1:n.6G>T, NR_002560.1:n.6G>A

Select item 77279476713.

rs772794767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62853342 (GRCh38)
11:62620814 (GRCh37)
Canonical SPDI:: NC_000011.10:62853341:C:G
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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=0.000009/1 (ExAC)
G=0.000013/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000034/9 (TOPMED)
G=0.000684/2 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000011.10:g.62853342C>G, NC_000011.9:g.62620814C>G, NR_002560.1:n.52G>C

Select item 76452136814.

rs764521368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62853332 (GRCh38)
11:62620804 (GRCh37)
Canonical SPDI:: NC_000011.10:62853331:C:G
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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 cluster
MAF:: G=0.000009/1 (ExAC)
G=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853332C>G, NC_000011.9:g.62620804C>G, NR_002560.1:n.62G>C

Select item 76348498315.

rs763484983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62853328 (GRCh38)
11:62620800 (GRCh37)
Canonical SPDI:: NC_000011.10:62853327:A:G
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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 cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000009/1 (ExAC)
HGVS:: NC_000011.10:g.62853328A>G, NC_000011.9:g.62620800A>G, NR_002560.1:n.66T>C

Select item 76009335416.

rs760093354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62853350 (GRCh38)
11:62620822 (GRCh37)
Canonical SPDI:: NC_000011.10:62853349:C:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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=0.000007/1 (GnomAD)
T=0.000009/1 (ExAC)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.62853350C>T, NC_000011.9:g.62620822C>T, NR_002560.1:n.44G>A

Select item 75843361617.

rs758433616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:62853381 (GRCh38)
11:62620853 (GRCh37)
Canonical SPDI:: NC_000011.10:62853380:C:A,NC_000011.10:62853380:C:G,NC_000011.10:62853380:C:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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)
G=0.000004/1 (GnomAD_exomes)
G=0.000009/1 (ExAC)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.62853381C>A, NC_000011.10:g.62853381C>G, NC_000011.10:g.62853381C>T, NC_000011.9:g.62620853C>A, NC_000011.9:g.62620853C>G, NC_000011.9:g.62620853C>T, NR_002560.1:n.13G>T, NR_002560.1:n.13G>C, NR_002560.1:n.13G>A

Select item 75778282818.

rs757782828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:62853375 (GRCh38)
11:62620847 (GRCh37)
Canonical SPDI:: NC_000011.10:62853374:A:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (ALSPAC)
T=0.000009/1 (ExAC)
T=0.000017/4 (GnomAD_exomes)
T=0.00027/1 (TWINSUK)
HGVS:: NC_000011.10:g.62853375A>T, NC_000011.9:g.62620847A>T, NR_002560.1:n.19T>A

Select item 75727926719.

rs757279267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:62853393 (GRCh38)
11:62620865 (GRCh37)
Canonical SPDI:: NC_000011.10:62853392:G:A,NC_000011.10:62853392:G:T
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000009/1 (ExAC)
A=0.000021/3 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000011.10:g.62853393G>A, NC_000011.10:g.62853393G>T, NC_000011.9:g.62620865G>A, NC_000011.9:g.62620865G>T, NR_002560.1:n.1C>T, NR_002560.1:n.1C>A

Select item 75250315620.

rs752503156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:62853380 (GRCh38)
11:62620852 (GRCh37)
Canonical SPDI:: NC_000011.10:62853379:A:C,NC_000011.10:62853379:A:G
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000009/1 (ExAC)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.62853380A>C, NC_000011.10:g.62853380A>G, NC_000011.9:g.62620852A>C, NC_000011.9:g.62620852A>G, NR_002560.1:n.14T>G, NR_002560.1:n.14T>C

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