SNP Links for Nucleotide (Select 255308893) - SNP

Links from Nucleotide

Items: 1 to 20 of 35

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Select item 14733232791.

rs1473323279 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:123058923 (GRCh38)
11:122929631 (GRCh37)
Canonical SPDI:: NC_000011.10:123058922:AA:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.123058924del, NC_000011.9:g.122929632del, NG_029473.1:g.8214del, NR_001454.2:n.73del

Select item 14711628152.

rs1471162815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123058965 (GRCh38)
11:122929673 (GRCh37)
Canonical SPDI:: NC_000011.10:123058964:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.123058965C>T, NC_000011.9:g.122929673C>T, NG_029473.1:g.8172G>A, NR_001454.2:n.31G>A

Select item 14403477353.

rs1440347735 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:123058991 (GRCh38)
11:122929699 (GRCh37)
Canonical SPDI:: NC_000011.10:123058990:A:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000011.10:g.123058991A>T, NC_000011.9:g.122929699A>T, NG_029473.1:g.8146T>A, NR_001454.2:n.5T>A

Select item 14401130304.

rs1440113030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:123058910 (GRCh38)
11:122929618 (GRCh37)
Canonical SPDI:: NC_000011.10:123058909:C:G,NC_000011.10:123058909:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123058910C>G, NC_000011.10:g.123058910C>T, NC_000011.9:g.122929618C>G, NC_000011.9:g.122929618C>T, NG_029473.1:g.8227G>C, NG_029473.1:g.8227G>A, NR_001454.2:n.86G>C, NR_001454.2:n.86G>A

Select item 14247122725.

rs1424712272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:123058956 (GRCh38)
11:122929664 (GRCh37)
Canonical SPDI:: NC_000011.10:123058955:T:A,NC_000011.10:123058955:T:G
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.123058956T>A, NC_000011.10:g.123058956T>G, NC_000011.9:g.122929664T>A, NC_000011.9:g.122929664T>G, NG_029473.1:g.8181A>T, NG_029473.1:g.8181A>C, NR_001454.2:n.40A>T, NR_001454.2:n.40A>C

Select item 14130507046.

rs1413050704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123058952 (GRCh38)
11:122929660 (GRCh37)
Canonical SPDI:: NC_000011.10:123058951:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123058952C>T, NC_000011.9:g.122929660C>T, NG_029473.1:g.8185G>A, NR_001454.2:n.44G>A

Select item 14122319267.

rs1412231926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123058920 (GRCh38)
11:122929628 (GRCh37)
Canonical SPDI:: NC_000011.10:123058919:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.123058920T>C, NC_000011.9:g.122929628T>C, NG_029473.1:g.8217A>G, NR_001454.2:n.76A>G

Select item 14090087938.

rs1409008793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:123058942 (GRCh38)
11:122929651 (GRCh37)
Canonical SPDI:: NC_000011.10:123058942:T:TT
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.123058943dup, NC_000011.9:g.122929651dup, NG_029473.1:g.8194dup, NR_001454.2:n.53dup

Select item 13940867939.

rs1394086793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:123058966 (GRCh38)
11:122929674 (GRCh37)
Canonical SPDI:: NC_000011.10:123058965:G:A,NC_000011.10:123058965:G:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000011.10:g.123058966G>A, NC_000011.10:g.123058966G>C, NC_000011.9:g.122929674G>A, NC_000011.9:g.122929674G>C, NG_029473.1:g.8171C>T, NG_029473.1:g.8171C>G, NR_001454.2:n.30C>T, NR_001454.2:n.30C>G

Select item 134874622610.

rs1348746226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:123058935 (GRCh38)
11:122929643 (GRCh37)
Canonical SPDI:: NC_000011.10:123058934:G:A,NC_000011.10:123058934:G:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.123058935G>A, NC_000011.10:g.123058935G>T, NC_000011.9:g.122929643G>A, NC_000011.9:g.122929643G>T, NG_029473.1:g.8202C>T, NG_029473.1:g.8202C>A, NR_001454.2:n.61C>T, NR_001454.2:n.61C>A

Select item 129515166511.

rs1295151665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123058950 (GRCh38)
11:122929658 (GRCh37)
Canonical SPDI:: NC_000011.10:123058949:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.123058950T>C, NC_000011.9:g.122929658T>C, NG_029473.1:g.8187A>G, NR_001454.2:n.46A>G

Select item 128288691212.

rs1282886912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123058921 (GRCh38)
11:122929629 (GRCh37)
Canonical SPDI:: NC_000011.10:123058920:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.123058921C>T, NC_000011.9:g.122929629C>T, NG_029473.1:g.8216G>A, NR_001454.2:n.75G>A

Select item 126013469713.

rs1260134697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123058987 (GRCh38)
11:122929695 (GRCh37)
Canonical SPDI:: NC_000011.10:123058986:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.123058987T>C, NC_000011.9:g.122929695T>C, NG_029473.1:g.8150A>G, NR_001454.2:n.9A>G

Select item 123907192714.

rs1239071927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:123058933 (GRCh38)
11:122929641 (GRCh37)
Canonical SPDI:: NC_000011.10:123058932:C:G
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.123058933C>G, NC_000011.9:g.122929641C>G, NG_029473.1:g.8204G>C, NR_001454.2:n.63G>C

Select item 123609486615.

rs1236094866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:123058923 (GRCh38)
11:122929631 (GRCh37)
Canonical SPDI:: NC_000011.10:123058922:A:G
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.123058923A>G, NC_000011.9:g.122929631A>G, NG_029473.1:g.8214T>C, NR_001454.2:n.73T>C

Select item 120489647716.

rs1204896477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:123058915 (GRCh38)
11:122929623 (GRCh37)
Canonical SPDI:: NC_000011.10:123058914:A:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.123058915A>T, NC_000011.9:g.122929623A>T, NG_029473.1:g.8222T>A, NR_001454.2:n.81T>A

Select item 118215234817.

rs1182152348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:123058977 (GRCh38)
11:122929685 (GRCh37)
Canonical SPDI:: NC_000011.10:123058976:G:A
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.123058977G>A, NC_000011.9:g.122929685G>A, NG_029473.1:g.8160C>T, NR_001454.2:n.19C>T

Select item 116206860018.

rs1162068600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123058934 (GRCh38)
11:122929642 (GRCh37)
Canonical SPDI:: NC_000011.10:123058933:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.123058934T>C, NC_000011.9:g.122929642T>C, NG_029473.1:g.8203A>G, NR_001454.2:n.62A>G

Select item 115923461819.

rs1159234618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:123058962 (GRCh38)
11:122929670 (GRCh37)
Canonical SPDI:: NC_000011.10:123058961:C:T
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.123058962C>T, NC_000011.9:g.122929670C>T, NG_029473.1:g.8175G>A, NR_001454.2:n.34G>A

Select item 97774516620.

rs977745166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:123058951 (GRCh38)
11:122929659 (GRCh37)
Canonical SPDI:: NC_000011.10:123058950:T:C
Gene:: HSPA8 (Varview), SNORD14C (Varview), SNORD14D (Varview), SNORD14E (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.123058951T>C, NC_000011.9:g.122929659T>C, NG_029473.1:g.8186A>G, NR_001454.2:n.45A>G

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