SNP Links for Nucleotide (Select 126012541) - SNP

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Links from Nucleotide

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Select item 14437424281.

rs1443742428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:25201399 (GRCh38)
15:25446546 (GRCh37)
Canonical SPDI:: NC_000015.10:25201398:A:G,NC_000015.10:25201398:A:T
Gene:: SNORD115-17 (Varview), SNORD115-18 (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:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25201399A>G, NC_000015.10:g.25201399A>T, NC_000015.9:g.25446546A>G, NC_000015.9:g.25446546A>T, NG_002690.1:g.420490A>G, NG_002690.1:g.420490A>T, NR_003309.1:n.77A>G, NR_003309.1:n.77A>T

Select item 14310525812.

rs1431052581 [Homo sapiens]

Variant type:: DEL
Alleles:: GAG>- [Show Flanks]
Chromosome:: 15:25201334 (GRCh38)
15:25446481 (GRCh37)
Canonical SPDI:: NC_000015.10:25201333:GAG:
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000132/2 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000015.10:g.25201334_25201336del, NC_000015.9:g.25446481_25446483del, NG_002690.1:g.420425_420427del, NR_003309.1:n.12_14del

Select item 14101172383.

rs1410117238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25201382 (GRCh38)
15:25446529 (GRCh37)
Canonical SPDI:: NC_000015.10:25201381:T:C
Gene:: SNORD115-17 (Varview), SNORD115-18 (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./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25201382T>C, NC_000015.9:g.25446529T>C, NG_002690.1:g.420473T>C, NR_003309.1:n.60T>C

Select item 14066405674.

rs1406640567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25201357 (GRCh38)
15:25446504 (GRCh37)
Canonical SPDI:: NC_000015.10:25201356:A:G
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25201357A>G, NC_000015.9:g.25446504A>G, NG_002690.1:g.420448A>G, NR_003309.1:n.35A>G

Select item 13983949835.

rs1398394983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:25201383 (GRCh38)
15:25446530 (GRCh37)
Canonical SPDI:: NC_000015.10:25201382:C:T
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25201383C>T, NC_000015.9:g.25446530C>T, NG_002690.1:g.420474C>T, NR_003309.1:n.61C>T

Select item 13857629646.

rs1385762964 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:25201390 (GRCh38)
15:25446537 (GRCh37)
Canonical SPDI:: NC_000015.10:25201389:A:G,NC_000015.10:25201389:A:T
Gene:: SNORD115-17 (Varview), SNORD115-18 (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:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.25201390A>G, NC_000015.10:g.25201390A>T, NC_000015.9:g.25446537A>G, NC_000015.9:g.25446537A>T, NG_002690.1:g.420481A>G, NG_002690.1:g.420481A>T, NR_003309.1:n.68A>G, NR_003309.1:n.68A>T

Select item 13500813907.

rs1350081390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:25201380 (GRCh38)
15:25446527 (GRCh37)
Canonical SPDI:: NC_000015.10:25201379:T:G
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25201380T>G, NC_000015.9:g.25446527T>G, NG_002690.1:g.420471T>G, NR_003309.1:n.58T>G

Select item 13419211108.

rs1341921110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25201329 (GRCh38)
15:25446476 (GRCh37)
Canonical SPDI:: NC_000015.10:25201328:A:T
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000015.10:g.25201329A>T, NC_000015.9:g.25446476A>T, NG_002690.1:g.420420A>T, NR_003309.1:n.7A>T

Select item 13412226719.

rs1341222671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25201373 (GRCh38)
15:25446520 (GRCh37)
Canonical SPDI:: NC_000015.10:25201372:A:C
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25201373A>C, NC_000015.9:g.25446520A>C, NG_002690.1:g.420464A>C, NR_003309.1:n.51A>C

Select item 128883914810.

rs1288839148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:25201386 (GRCh38)
15:25446533 (GRCh37)
Canonical SPDI:: NC_000015.10:25201385:A:T
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,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=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.25201386A>T, NC_000015.9:g.25446533A>T, NG_002690.1:g.420477A>T, NR_003309.1:n.64A>T

Select item 127780039311.

rs1277800393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:25201375 (GRCh38)
15:25446522 (GRCh37)
Canonical SPDI:: NC_000015.10:25201374:A:G
Gene:: SNORD115-17 (Varview), SNORD115-18 (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:: G=0.000043/1 (ALFA)
G=0.000047/11 (GnomAD_exomes)
G=0.000076/20 (TOPMED)
G=0.00015/21 (GnomAD)
HGVS:: NC_000015.10:g.25201375A>G, NC_000015.9:g.25446522A>G, NG_002690.1:g.420466A>G, NR_003309.1:n.53A>G

Select item 124146296312.

rs1241462963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:25201384 (GRCh38)
15:25446531 (GRCh37)
Canonical SPDI:: NC_000015.10:25201383:A:C
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25201384A>C, NC_000015.9:g.25446531A>C, NG_002690.1:g.420475A>C, NR_003309.1:n.62A>C

Select item 121559562913.

rs1215595629 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGA>- [Show Flanks]
Chromosome:: 15:25201333 (GRCh38)
15:25446480 (GRCh37)
Canonical SPDI:: NC_000015.10:25201327:GATGATGA:GATGA
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATGA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.25201330TGA[1], NC_000015.9:g.25446477TGA[1], NG_002690.1:g.420421TGA[1], NR_003309.1:n.8TGA[1]

Select item 121053505014.

rs1210535050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25201394 (GRCh38)
15:25446541 (GRCh37)
Canonical SPDI:: NC_000015.10:25201393:T:C
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.25201394T>C, NC_000015.9:g.25446541T>C, NG_002690.1:g.420485T>C, NR_003309.1:n.72T>C

Select item 118674868015.

rs1186748680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:25201349 (GRCh38)
15:25446496 (GRCh37)
Canonical SPDI:: NC_000015.10:25201348:T:G
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25201349T>G, NC_000015.9:g.25446496T>G, NG_002690.1:g.420440T>G, NR_003309.1:n.27T>G

Select item 118556343116.

rs1185563431 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:25201392 (GRCh38)
15:25446540 (GRCh37)
Canonical SPDI:: NC_000015.10:25201392:A:AA
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.25201393dup, NC_000015.9:g.25446540dup, NG_002690.1:g.420484dup, NR_003309.1:n.71dup

Select item 116120011217.

rs1161200112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:25201388 (GRCh38)
15:25446535 (GRCh37)
Canonical SPDI:: NC_000015.10:25201387:G:A,NC_000015.10:25201387:G:C
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
C=0.000779/13 (TOMMO)
HGVS:: NC_000015.10:g.25201388G>A, NC_000015.10:g.25201388G>C, NC_000015.9:g.25446535G>A, NC_000015.9:g.25446535G>C, NG_002690.1:g.420479G>A, NG_002690.1:g.420479G>C, NR_003309.1:n.66G>A, NR_003309.1:n.66G>C

Select item 115624597018.

rs1156245970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25201356 (GRCh38)
15:25446503 (GRCh37)
Canonical SPDI:: NC_000015.10:25201355:G:A
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.25201356G>A, NC_000015.9:g.25446503G>A, NG_002690.1:g.420447G>A, NR_003309.1:n.34G>A

Select item 98036494119.

rs980364941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:25201401 (GRCh38)
15:25446548 (GRCh37)
Canonical SPDI:: NC_000015.10:25201400:G:A
Gene:: SNORD115-17 (Varview), SNORD115-18 (Varview), SNHG14 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.25201401G>A, NC_000015.9:g.25446548G>A, NG_002690.1:g.420492G>A, NR_003309.1:n.79G>A

Select item 91837969920.

rs918379699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:25201346 (GRCh38)
15:25446493 (GRCh37)
Canonical SPDI:: NC_000015.10:25201345:T:C
Gene:: SNORD115-17 (Varview), SNORD115-18 (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:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.25201346T>C, NC_000015.9:g.25446493T>C, NG_002690.1:g.420437T>C, NR_003309.1:n.24T>C