SNP Links for Nucleotide (Select 126032333) - SNP

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Links from Nucleotide

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Select item 14889894701.

rs1488989470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:25070468 (GRCh38)
15:25315615 (GRCh37)
Canonical SPDI:: NC_000015.10:25070467:G:A,NC_000015.10:25070467:G:C
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25070468G>A, NC_000015.10:g.25070468G>C, NC_000015.9:g.25315615G>A, NC_000015.9:g.25315615G>C, NG_002690.1:g.289559G>A, NG_002690.1:g.289559G>C, NR_003323.1:n.38G>A, NR_003323.1:n.38G>C

Select item 14834505442.

rs1483450544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:25070487 (GRCh38)
15:25315634 (GRCh37)
Canonical SPDI:: NC_000015.10:25070486:G:T
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25070487G>T, NC_000015.9:g.25315634G>T, NG_002690.1:g.289578G>T, NR_003323.1:n.57G>T

Select item 14216048283.

rs1421604828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25070497 (GRCh38)
15:25315644 (GRCh37)
Canonical SPDI:: NC_000015.10:25070496:A:C
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25070497A>C, NC_000015.9:g.25315644A>C, NG_002690.1:g.289588A>C, NR_003323.1:n.67A>C

Select item 14053734754.

rs1405373475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25070445 (GRCh38)
15:25315592 (GRCh37)
Canonical SPDI:: NC_000015.10:25070444:G:A
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25070445G>A, NC_000015.9:g.25315592G>A, NG_002690.1:g.289536G>A, NR_003323.1:n.15G>A

Select item 13809241475.

rs1380924147 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 15:25070497 (GRCh38)
15:25315644 (GRCh37)
Canonical SPDI:: NC_000015.10:25070496:A:
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25070497del, NC_000015.9:g.25315644del, NG_002690.1:g.289588del, NR_003323.1:n.67del

Select item 13412020626.

rs1341202062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:25070440 (GRCh38)
15:25315587 (GRCh37)
Canonical SPDI:: NC_000015.10:25070439:G:A,NC_000015.10:25070439:G:C
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25070440G>A, NC_000015.10:g.25070440G>C, NC_000015.9:g.25315587G>A, NC_000015.9:g.25315587G>C, NG_002690.1:g.289531G>A, NG_002690.1:g.289531G>C, NR_003323.1:n.10G>A, NR_003323.1:n.10G>C

Select item 12884106997.

rs1288410699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25070432 (GRCh38)
15:25315579 (GRCh37)
Canonical SPDI:: NC_000015.10:25070431:G:A
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25070432G>A, NC_000015.9:g.25315579G>A, NG_002690.1:g.289523G>A, NR_003323.1:n.2G>A

Select item 12567944368.

rs1256794436 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTGAGAA [Show Flanks]
Chromosome:: 15:25070485 (GRCh38)
15:25315633 (GRCh37)
Canonical SPDI:: NC_000015.10:25070485:AGTGAGAA:AGTGAGAAAGTGAGAA
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: AGTGAGAA=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25070486_25070493dup, NC_000015.9:g.25315633_25315640dup, NG_002690.1:g.289577_289584dup, NR_003323.1:n.56_63dup

Select item 12315254669.

rs1231525466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25070525 (GRCh38)
15:25315672 (GRCh37)
Canonical SPDI:: NC_000015.10:25070524:C:T
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25070525C>T, NC_000015.9:g.25315672C>T, NG_002690.1:g.289616C>T, NR_003323.1:n.95C>T

Select item 121434797110.

rs1214347971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:25070500 (GRCh38)
15:25315647 (GRCh37)
Canonical SPDI:: NC_000015.10:25070499:C:G
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.25070500C>G, NC_000015.9:g.25315647C>G, NG_002690.1:g.289591C>G, NR_003323.1:n.70C>G

Select item 121014869611.

rs1210148696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25070492 (GRCh38)
15:25315639 (GRCh37)
Canonical SPDI:: NC_000015.10:25070491:A:T
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000015.10:g.25070492A>T, NC_000015.9:g.25315639A>T, NG_002690.1:g.289583A>T, NR_003323.1:n.62A>T

Select item 118668566312.

rs1186685663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25070486 (GRCh38)
15:25315633 (GRCh37)
Canonical SPDI:: NC_000015.10:25070485:A:C
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000017/4 (GnomAD_exomes)
C=0.000018/2 (ExAC)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25070486A>C, NC_000015.9:g.25315633A>C, NG_002690.1:g.289577A>C, NR_003323.1:n.56A>C

Select item 115869317513.

rs1158693175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25070494 (GRCh38)
15:25315641 (GRCh37)
Canonical SPDI:: NC_000015.10:25070493:C:T
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25070494C>T, NC_000015.9:g.25315641C>T, NG_002690.1:g.289585C>T, NR_003323.1:n.64C>T

Select item 91430182014.

rs914301820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25070511 (GRCh38)
15:25315658 (GRCh37)
Canonical SPDI:: NC_000015.10:25070510:A:G
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000015.10:g.25070511A>G, NC_000015.9:g.25315658A>G, NG_002690.1:g.289602A>G, NR_003323.1:n.81A>G

Select item 77902183715.

rs779021837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:25070514 (GRCh38)
15:25315661 (GRCh37)
Canonical SPDI:: NC_000015.10:25070513:G:A,NC_000015.10:25070513:G:T
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/5 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000027/3 (ExAC)
A=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.25070514G>A, NC_000015.10:g.25070514G>T, NC_000015.9:g.25315661G>A, NC_000015.9:g.25315661G>T, NG_002690.1:g.289605G>A, NG_002690.1:g.289605G>T, NR_003323.1:n.84G>A, NR_003323.1:n.84G>T

Select item 77877170616.

rs778771706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25070441 (GRCh38)
15:25315588 (GRCh37)
Canonical SPDI:: NC_000015.10:25070440:A:G
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: 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)
G=0.000009/1 (ExAC)
G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25070441A>G, NC_000015.9:g.25315588A>G, NG_002690.1:g.289532A>G, NR_003323.1:n.11A>G

Select item 77612386317.

rs776123863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25070473 (GRCh38)
15:25315620 (GRCh37)
Canonical SPDI:: NC_000015.10:25070472:G:A
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/6 (GnomAD_exomes)
A=0.000035/4 (ExAC)
A=0.000091/24 (TOPMED)
A=0.000107/15 (GnomAD)
HGVS:: NC_000015.10:g.25070473G>A, NC_000015.9:g.25315620G>A, NG_002690.1:g.289564G>A, NR_003323.1:n.43G>A

Select item 77297185118.

rs772971851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25070464 (GRCh38)
15:25315611 (GRCh37)
Canonical SPDI:: NC_000015.10:25070463:C:T
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/1 (ExAC)
T=0.000009/2 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000015.10:g.25070464C>T, NC_000015.9:g.25315611C>T, NG_002690.1:g.289555C>T, NR_003323.1:n.34C>T

Select item 77180547019.

rs771805470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25070458 (GRCh38)
15:25315605 (GRCh37)
Canonical SPDI:: NC_000015.10:25070457:A:T
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000009/1 (ExAC)
HGVS:: NC_000015.10:g.25070458A>T, NC_000015.9:g.25315605A>T, NG_002690.1:g.289549A>T, NR_003323.1:n.28A>T

Select item 76813360220.

rs768133602 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:25070488 (GRCh38)
15:25315635 (GRCh37)
Canonical SPDI:: NC_000015.10:25070486:GTG:G
Gene:: SNORD116-8 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000035/4 (ExAC)
-=0.000043/10 (GnomAD_exomes)
-=0.000043/6 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000015.10:g.25070488_25070489del, NC_000015.9:g.25315635_25315636del, NG_002690.1:g.289579_289580del, NR_003323.1:n.58_59del