SNP Links for Nucleotide (Select 255308891) - SNP

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Links from Nucleotide

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Select item 14871275601.

rs1487127560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:123059395 (GRCh38)
11:122930103 (GRCh37)
Canonical SPDI:: NC_000011.10:123059394:A:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000016/2 (GnomAD)
HGVS:: NC_000011.10:g.123059395A>C, NC_000011.9:g.122930103A>C, NG_029473.1:g.7742T>G, NR_001453.2:n.28T>G

Select item 14606157272.

rs1460615727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:123059403 (GRCh38)
11:122930111 (GRCh37)
Canonical SPDI:: NC_000011.10:123059402:A:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059403A>T, NC_000011.9:g.122930111A>T, NG_029473.1:g.7734T>A, NR_001453.2:n.20T>A

Select item 14551273523.

rs1455127352 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:123059419 (GRCh38)
11:122930127 (GRCh37)
Canonical SPDI:: NC_000011.10:123059418:G:
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.123059419del, NC_000011.9:g.122930127del, NG_029473.1:g.7718del, NR_001453.2:n.4del

Select item 14515878764.

rs1451587876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:123059369 (GRCh38)
11:122930077 (GRCh37)
Canonical SPDI:: NC_000011.10:123059368:T:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.123059369T>A, NC_000011.9:g.122930077T>A, NG_029473.1:g.7768A>T, NR_001453.2:n.54A>T

Select item 14169365055.

rs1416936505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123059359 (GRCh38)
11:122930067 (GRCh37)
Canonical SPDI:: NC_000011.10:123059358:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (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=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123059359T>C, NC_000011.9:g.122930067T>C, NG_029473.1:g.7778A>G, NR_001453.2:n.64A>G

Select item 14154771726.

rs1415477172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:123059406 (GRCh38)
11:122930114 (GRCh37)
Canonical SPDI:: NC_000011.10:123059405:A:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059406A>C, NC_000011.9:g.122930114A>C, NG_029473.1:g.7731T>G, NR_001453.2:n.17T>G

Select item 14124847637.

rs1412484763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:123059340 (GRCh38)
11:122930048 (GRCh37)
Canonical SPDI:: NC_000011.10:123059339:C:G
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.123059340C>G, NC_000011.9:g.122930048C>G, NG_029473.1:g.7797G>C, NR_001453.2:n.83G>C

Select item 14039416018.

rs1403941601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123059361 (GRCh38)
11:122930069 (GRCh37)
Canonical SPDI:: NC_000011.10:123059360:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.123059361G>A, NC_000011.9:g.122930069G>A, NG_029473.1:g.7776C>T, NR_001453.2:n.62C>T

Select item 13951583999.

rs1395158399 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCATCACAG [Show Flanks]
Chromosome:: 11:123059410 (GRCh38)
11:122930119 (GRCh37)
Canonical SPDI:: NC_000011.10:123059410:TCATCACAG:TCATCACAGTCATCACAG
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCATCACAGTCATCACAG=0./0 (ALFA)
TCATCACAG=0.000014/2 (GnomAD)
TCATCACAG=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.123059411_123059419dup, NC_000011.9:g.122930119_122930127dup, NG_029473.1:g.7718_7726dup, NR_001453.2:n.4_12dup

Select item 138231834410.

rs1382318344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:123059382 (GRCh38)
11:122930090 (GRCh37)
Canonical SPDI:: NC_000011.10:123059381:G:A,NC_000011.10:123059381:G:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000112/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059382G>A, NC_000011.10:g.123059382G>C, NC_000011.9:g.122930090G>A, NC_000011.9:g.122930090G>C, NG_029473.1:g.7755C>T, NG_029473.1:g.7755C>G, NR_001453.2:n.41C>T, NR_001453.2:n.41C>G

Select item 136438115111.

rs1364381151 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCACA [Show Flanks]
Chromosome:: 11:123059412 (GRCh38)
11:122930121 (GRCh37)
Canonical SPDI:: NC_000011.10:123059412:ATCACA:ATCACAATCACA
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCACAATCACA=0./0 (ALFA)
ATCACA=0.000005/1 (GnomAD_exomes)
ATCACA=0.000007/1 (GnomAD)
ATCACA=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.123059413_123059418dup, NC_000011.9:g.122930121_122930126dup, NG_029473.1:g.7719_7724dup, NR_001453.2:n.5_10dup

Select item 135879289712.

rs1358792897 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGG>- [Show Flanks]
Chromosome:: 11:123059353 (GRCh38)
11:122930061 (GRCh37)
Canonical SPDI:: NC_000011.10:123059348:AAGGAAGG:AAGG
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAGG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123059349AAGG[1], NC_000011.9:g.122930057AAGG[1], NG_029473.1:g.7781CCTT[1], NR_001453.2:n.67CCTT[1]

Select item 134530822013.

rs1345308220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:123059369 (GRCh38)
11:122930078 (GRCh37)
Canonical SPDI:: NC_000011.10:123059369:A:AA
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.123059370dup, NC_000011.9:g.122930078dup, NG_029473.1:g.7767dup, NR_001453.2:n.53dup

Select item 133444306814.

rs1334443068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123059376 (GRCh38)
11:122930084 (GRCh37)
Canonical SPDI:: NC_000011.10:123059375:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.123059376G>A, NC_000011.9:g.122930084G>A, NG_029473.1:g.7761C>T, NR_001453.2:n.47C>T

Select item 128826188615.

rs1288261886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123059371 (GRCh38)
11:122930079 (GRCh37)
Canonical SPDI:: NC_000011.10:123059370:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.123059371G>A, NC_000011.9:g.122930079G>A, NG_029473.1:g.7766C>T, NR_001453.2:n.52C>T

Select item 128662138416.

rs1286621384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:123059383 (GRCh38)
11:122930091 (GRCh37)
Canonical SPDI:: NC_000011.10:123059382:G:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000011.10:g.123059383G>C, NC_000011.9:g.122930091G>C, NG_029473.1:g.7754C>G, NR_001453.2:n.40C>G

Select item 125442008717.

rs1254420087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123059336 (GRCh38)
11:122930044 (GRCh37)
Canonical SPDI:: NC_000011.10:123059335:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000011.10:g.123059336C>T, NC_000011.9:g.122930044C>T, NG_029473.1:g.7801G>A, NR_001453.2:n.87G>A

Select item 125436438618.

rs1254364386 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:123059398 (GRCh38)
11:122930106 (GRCh37)
Canonical SPDI:: NC_000011.10:123059396:TGT:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.123059398_123059399del, NC_000011.9:g.122930106_122930107del, NG_029473.1:g.7739_7740del, NR_001453.2:n.25_26del

Select item 124286029219.

rs1242860292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATCAC [Show Flanks]
Chromosome:: 11:123059402 (GRCh38)
11:122930111 (GRCh37)
Canonical SPDI:: NC_000011.10:123059402:ACAATCAC:ACAATCACAATCAC
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000011.10:g.123059405_123059410dup, NC_000011.9:g.122930113_122930118dup, NG_029473.1:g.7729_7734dup, NR_001453.2:n.15_20dup

Select item 118154885820.

rs1181548858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123059397 (GRCh38)
11:122930105 (GRCh37)
Canonical SPDI:: NC_000011.10:123059396:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.123059397T>C, NC_000011.9:g.122930105T>C, NG_029473.1:g.7740A>G, NR_001453.2:n.26A>G