SNP Links for Nucleotide (Select 95007012) - SNP

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Links from Nucleotide

Items: 1 to 20 of 55

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Select item 14818502561.

rs1481850256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:38429791 (GRCh38)
20:37058434 (GRCh37)
Canonical SPDI:: NC_000020.11:38429790:T:G
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38429791T>G, NC_000020.10:g.37058434T>G, NR_003017.2:n.14A>C

Select item 14653645242.

rs1465364524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38429671 (GRCh38)
20:37058314 (GRCh37)
Canonical SPDI:: NC_000020.11:38429670:G:A
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.38429671G>A, NC_000020.10:g.37058314G>A, NR_003017.2:n.134C>T

Select item 14406555303.

rs1440655530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38429770 (GRCh38)
20:37058413 (GRCh37)
Canonical SPDI:: NC_000020.11:38429769:C:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.38429770C>T, NC_000020.10:g.37058413C>T, NR_003017.2:n.35G>A

Select item 14351438224.

rs1435143822 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGTGCTCTCGG>- [Show Flanks]
Chromosome:: 20:38429725 (GRCh38)
20:37058368 (GRCh37)
Canonical SPDI:: NC_000020.11:38429722:GGAAGTGCTCTCGG:GG
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38429725_38429736del, NC_000020.10:g.37058368_37058379del, NR_003017.2:n.71_82del

Select item 14159850205.

rs1415985020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:38429699 (GRCh38)
20:37058342 (GRCh37)
Canonical SPDI:: NC_000020.11:38429698:C:G,NC_000020.11:38429698:C:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38429699C>G, NC_000020.11:g.38429699C>T, NC_000020.10:g.37058342C>G, NC_000020.10:g.37058342C>T, NR_003017.2:n.106G>C, NR_003017.2:n.106G>A

Select item 14062420226.

rs1406242022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38429730 (GRCh38)
20:37058373 (GRCh37)
Canonical SPDI:: NC_000020.11:38429729:C:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.38429730C>T, NC_000020.10:g.37058373C>T, NR_003017.2:n.75G>A

Select item 13714367847.

rs1371436784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:38429698 (GRCh38)
20:37058341 (GRCh37)
Canonical SPDI:: NC_000020.11:38429697:A:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38429698A>T, NC_000020.10:g.37058341A>T, NR_003017.2:n.107T>A

Select item 13438966158.

rs1343896615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38429668 (GRCh38)
20:37058311 (GRCh37)
Canonical SPDI:: NC_000020.11:38429667:G:A
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.38429668G>A, NC_000020.10:g.37058311G>A, NR_003017.2:n.137C>T

Select item 13273598689.

rs1327359868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:38429746 (GRCh38)
20:37058389 (GRCh37)
Canonical SPDI:: NC_000020.11:38429745:T:G
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38429746T>G, NC_000020.10:g.37058389T>G, NR_003017.2:n.59A>C

Select item 131197056910.

rs1311970569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38429764 (GRCh38)
20:37058407 (GRCh37)
Canonical SPDI:: NC_000020.11:38429763:C:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.38429764C>T, NC_000020.10:g.37058407C>T, NR_003017.2:n.41G>A

Select item 130563021411.

rs1305630214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38429696 (GRCh38)
20:37058339 (GRCh37)
Canonical SPDI:: NC_000020.11:38429695:A:G
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38429696A>G, NC_000020.10:g.37058339A>G, NR_003017.2:n.109T>C

Select item 130523364312.

rs1305233643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38429694 (GRCh38)
20:37058337 (GRCh37)
Canonical SPDI:: NC_000020.11:38429693:A:G
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38429694A>G, NC_000020.10:g.37058337A>G, NR_003017.2:n.111T>C

Select item 130363623513.

rs1303636235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:38429768 (GRCh38)
20:37058411 (GRCh37)
Canonical SPDI:: NC_000020.11:38429767:G:A,NC_000020.11:38429767:G:C
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38429768G>A, NC_000020.11:g.38429768G>C, NC_000020.10:g.37058411G>A, NC_000020.10:g.37058411G>C, NR_003017.2:n.37C>T, NR_003017.2:n.37C>G

Select item 121741423814.

rs1217414238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:38429750 (GRCh38)
20:37058393 (GRCh37)
Canonical SPDI:: NC_000020.11:38429749:T:G
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.38429750T>G, NC_000020.10:g.37058393T>G, NR_003017.2:n.55A>C

Select item 121055442415.

rs1210554424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:38429752 (GRCh38)
20:37058395 (GRCh37)
Canonical SPDI:: NC_000020.11:38429751:C:A
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38429752C>A, NC_000020.10:g.37058395C>A, NR_003017.2:n.53G>T

Select item 119912159316.

rs1199121593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:38429788 (GRCh38)
20:37058431 (GRCh37)
Canonical SPDI:: NC_000020.11:38429787:A:G,NC_000020.11:38429787:A:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38429788A>G, NC_000020.11:g.38429788A>T, NC_000020.10:g.37058431A>G, NC_000020.10:g.37058431A>T, NR_003017.2:n.17T>C, NR_003017.2:n.17T>A

Select item 119826158217.

rs1198261582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38429778 (GRCh38)
20:37058421 (GRCh37)
Canonical SPDI:: NC_000020.11:38429777:G:A
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.38429778G>A, NC_000020.10:g.37058421G>A, NR_003017.2:n.27C>T

Select item 117973600418.

rs1179736004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:38429722 (GRCh38)
20:37058365 (GRCh37)
Canonical SPDI:: NC_000020.11:38429721:G:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38429722G>T, NC_000020.10:g.37058365G>T, NR_003017.2:n.83C>A

Select item 94538823319.

rs945388233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:38429669 (GRCh38)
20:37058312 (GRCh37)
Canonical SPDI:: NC_000020.11:38429668:G:T
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000020.11:g.38429669G>T, NC_000020.10:g.37058312G>T, NR_003017.2:n.136C>A

Select item 93256174020.

rs932561740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:38429757 (GRCh38)
20:37058400 (GRCh37)
Canonical SPDI:: NC_000020.11:38429756:C:A
Gene:: SNHG17 (Varview), SNORA71C (Varview), LOC124904958 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.38429757C>A, NC_000020.10:g.37058400C>A, NR_003017.2:n.48G>T