SNP Links for Nucleotide (Select 126012518) - SNP

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Links from Nucleotide

Items: 1 to 20 of 35

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Select item 14530432141.

rs1453043214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25176906 (GRCh38)
15:25422053 (GRCh37)
Canonical SPDI:: NC_000015.10:25176905:T:C
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/2 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.25176906T>C, NC_000015.9:g.25422053T>C, NG_002690.1:g.395997T>C, NR_003296.1:n.75T>C

Select item 13842535262.

rs1384253526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25176902 (GRCh38)
15:25422049 (GRCh37)
Canonical SPDI:: NC_000015.10:25176901:A:G
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25176902A>G, NC_000015.9:g.25422049A>G, NG_002690.1:g.395993A>G, NR_003296.1:n.71A>G

Select item 13814137463.

rs1381413746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25176859 (GRCh38)
15:25422006 (GRCh37)
Canonical SPDI:: NC_000015.10:25176858:T:C
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25176859T>C, NC_000015.9:g.25422006T>C, NG_002690.1:g.395950T>C, NR_003296.1:n.28T>C

Select item 13697794134.

rs1369779413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25176884 (GRCh38)
15:25422031 (GRCh37)
Canonical SPDI:: NC_000015.10:25176883:A:G
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (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=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25176884A>G, NC_000015.9:g.25422031A>G, NG_002690.1:g.395975A>G, NR_003296.1:n.53A>G

Select item 13636974305.

rs1363697430 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 15:25176857 (GRCh38)
15:25422004 (GRCh37)
Canonical SPDI:: NC_000015.10:25176856:G:
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.25176857del, NC_000015.9:g.25422004del, NG_002690.1:g.395948del, NR_003296.1:n.26del

Select item 13587563576.

rs1358756357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:25176875 (GRCh38)
15:25422022 (GRCh37)
Canonical SPDI:: NC_000015.10:25176874:G:A,NC_000015.10:25176874:G:T
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25176875G>A, NC_000015.10:g.25176875G>T, NC_000015.9:g.25422022G>A, NC_000015.9:g.25422022G>T, NG_002690.1:g.395966G>A, NG_002690.1:g.395966G>T, NR_003296.1:n.44G>A, NR_003296.1:n.44G>T

Select item 12984943757.

rs1298494375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:25176860 (GRCh38)
15:25422008 (GRCh37)
Canonical SPDI:: NC_000015.10:25176860:T:TT
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000015.10:g.25176861dup, NC_000015.9:g.25422008dup, NG_002690.1:g.395952dup, NR_003296.1:n.30dup

Select item 12757935508.

rs1275793550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25176843 (GRCh38)
15:25421990 (GRCh37)
Canonical SPDI:: NC_000015.10:25176842:G:A
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.25176843G>A, NC_000015.9:g.25421990G>A, NG_002690.1:g.395934G>A, NR_003296.1:n.12G>A

Select item 12716425759.

rs1271642575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25176887 (GRCh38)
15:25422034 (GRCh37)
Canonical SPDI:: NC_000015.10:25176886:A:G
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25176887A>G, NC_000015.9:g.25422034A>G, NG_002690.1:g.395978A>G, NR_003296.1:n.56A>G

Select item 125300660310.

rs1253006603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25176911 (GRCh38)
15:25422058 (GRCh37)
Canonical SPDI:: NC_000015.10:25176910:C:T
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25176911C>T, NC_000015.9:g.25422058C>T, NG_002690.1:g.396002C>T, NR_003296.1:n.80C>T

Select item 122830562011.

rs1228305620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25176857 (GRCh38)
15:25422004 (GRCh37)
Canonical SPDI:: NC_000015.10:25176856:G:A
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000225/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000224/1 (Estonian)
HGVS:: NC_000015.10:g.25176857G>A, NC_000015.9:g.25422004G>A, NG_002690.1:g.395948G>A, NR_003296.1:n.26G>A

Select item 122338337312.

rs1223383373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25176881 (GRCh38)
15:25422028 (GRCh37)
Canonical SPDI:: NC_000015.10:25176880:A:C
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25176881A>C, NC_000015.9:g.25422028A>C, NG_002690.1:g.395972A>C, NR_003296.1:n.50A>C

Select item 104131982413.

rs1041319824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:25176892 (GRCh38)
15:25422039 (GRCh37)
Canonical SPDI:: NC_000015.10:25176891:C:A,NC_000015.10:25176891:C:T
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25176892C>A, NC_000015.10:g.25176892C>T, NC_000015.9:g.25422039C>A, NC_000015.9:g.25422039C>T, NG_002690.1:g.395983C>A, NG_002690.1:g.395983C>T, NR_003296.1:n.61C>A, NR_003296.1:n.61C>T

Select item 94756069014.

rs947560690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:25176852 (GRCh38)
15:25421999 (GRCh37)
Canonical SPDI:: NC_000015.10:25176851:A:C,NC_000015.10:25176851:A:G
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.25176852A>C, NC_000015.10:g.25176852A>G, NC_000015.9:g.25421999A>C, NC_000015.9:g.25421999A>G, NG_002690.1:g.395943A>C, NG_002690.1:g.395943A>G, NR_003296.1:n.21A>C, NR_003296.1:n.21A>G

Select item 94426100215.

rs944261002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:25176879 (GRCh38)
15:25422026 (GRCh37)
Canonical SPDI:: NC_000015.10:25176878:T:A
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25176879T>A, NC_000015.9:g.25422026T>A, NG_002690.1:g.395970T>A, NR_003296.1:n.48T>A

Select item 92481628416.

rs924816284 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:25176874 (GRCh38)
15:25422021 (GRCh37)
Canonical SPDI:: NC_000015.10:25176873:T:G
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000009/2 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.25176874T>G, NC_000015.9:g.25422021T>G, NG_002690.1:g.395965T>G, NR_003296.1:n.43T>G

Select item 77576277317.

rs775762773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25176849 (GRCh38)
15:25421996 (GRCh37)
Canonical SPDI:: NC_000015.10:25176848:T:C
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000027/3 (ExAC)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25176849T>C, NC_000015.9:g.25421996T>C, NG_002690.1:g.395940T>C, NR_003296.1:n.18T>C

Select item 77457228118.

rs774572281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25176886 (GRCh38)
15:25422033 (GRCh37)
Canonical SPDI:: NC_000015.10:25176885:C:T
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000009/1 (ExAC)
HGVS:: NC_000015.10:g.25176886C>T, NC_000015.9:g.25422033C>T, NG_002690.1:g.395977C>T, NR_003296.1:n.55C>T

Select item 77330384419.

rs773303844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25176895 (GRCh38)
15:25422042 (GRCh37)
Canonical SPDI:: NC_000015.10:25176894:T:C
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000009/1 (ExAC)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25176895T>C, NC_000015.9:g.25422042T>C, NG_002690.1:g.395986T>C, NR_003296.1:n.64T>C

Select item 76766270520.

rs767662705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25176894 (GRCh38)
15:25422041 (GRCh37)
Canonical SPDI:: NC_000015.10:25176893:A:G
Gene:: SNORD115-4 (Varview), SNORD115-5 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000009/1 (ExAC)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25176894A>G, NC_000015.9:g.25422041A>G, NG_002690.1:g.395985A>G, NR_003296.1:n.63A>G