SNP Links for Gene (Select 677828) - SNP

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Links from Gene

Items: 1 to 20 of 569

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Select item 14911857981.

rs1491185798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 5:77081339 (GRCh38)
5:76377165 (GRCh37)
Canonical SPDI:: NC_000005.10:77081339:TT:TTCTT
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000008/2 (TOPMED)
TTC=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.77081341_77081342insCTT, NC_000005.9:g.76377166_76377167insCTT

Select item 14903933172.

rs1490393317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:77080950 (GRCh38)
5:76376775 (GRCh37)
Canonical SPDI:: NC_000005.10:77080949:C:T
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.77080950C>T, NC_000005.9:g.76376775C>T

Select item 14896195523.

rs1489619552 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATG [Show Flanks]
Chromosome:: 5:77080083 (GRCh38)
5:76375909 (GRCh37)
Canonical SPDI:: NC_000005.10:77080083:GATG:GATGATG
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GATGATG=0./0 (ALFA)
GAT=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77080085_77080087dup, NC_000005.9:g.76375910_76375912dup

Select item 14890853434.

rs1489085343 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTA>- [Show Flanks]
Chromosome:: 5:77080062 (GRCh38)
5:76375887 (GRCh37)
Canonical SPDI:: NC_000005.10:77080059:TAATTTA:TA
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77080062_77080066del, NC_000005.9:g.76375887_76375891del

Select item 14866107705.

rs1486610770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:77080135 (GRCh38)
5:76375960 (GRCh37)
Canonical SPDI:: NC_000005.10:77080134:C:G
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.77080135C>G, NC_000005.9:g.76375960C>G

Select item 14845935556.

rs1484593555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:77081244 (GRCh38)
5:76377069 (GRCh37)
Canonical SPDI:: NC_000005.10:77081243:T:C
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_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_000005.10:g.77081244T>C, NC_000005.9:g.76377069T>C

Select item 14816431067.

rs1481643106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:77082420 (GRCh38)
5:76378245 (GRCh37)
Canonical SPDI:: NC_000005.10:77082419:G:C,NC_000005.10:77082419:G:T
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
C=0.000045/12 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.77082420G>C, NC_000005.10:g.77082420G>T, NC_000005.9:g.76378245G>C, NC_000005.9:g.76378245G>T

Select item 14815552258.

rs1481555225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77081584 (GRCh38)
5:76377409 (GRCh37)
Canonical SPDI:: NC_000005.10:77081583:A:G
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_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_000005.10:g.77081584A>G, NC_000005.9:g.76377409A>G

Select item 14805233939.

rs1480523393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:77082235 (GRCh38)
5:76378060 (GRCh37)
Canonical SPDI:: NC_000005.10:77082234:C:G
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.77082235C>G, NC_000005.9:g.76378060C>G

Select item 147989995010.

rs1479899950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:77080938 (GRCh38)
5:76376763 (GRCh37)
Canonical SPDI:: NC_000005.10:77080937:A:C
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77080938A>C, NC_000005.9:g.76376763A>C

Select item 147935555311.

rs1479355553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:77080740 (GRCh38)
5:76376565 (GRCh37)
Canonical SPDI:: NC_000005.10:77080739:G:A
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.77080740G>A, NC_000005.9:g.76376565G>A

Select item 147372188912.

rs1473721889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:77082462 (GRCh38)
5:76378287 (GRCh37)
Canonical SPDI:: NC_000005.10:77082461:T:C
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.77082462T>C, NC_000005.9:g.76378287T>C

Select item 147238679813.

rs1472386798 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:77082574 (GRCh38)
5:76378399 (GRCh37)
Canonical SPDI:: NC_000005.10:77082568:AGAGAGA:AGAGA
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77082570GA[2], NC_000005.9:g.76378395GA[2]

Select item 147179993614.

rs1471799936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:77082122 (GRCh38)
5:76377947 (GRCh37)
Canonical SPDI:: NC_000005.10:77082121:C:G
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_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_000005.10:g.77082122C>G, NC_000005.9:g.76377947C>G

Select item 146972725615.

rs1469727256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:77081313 (GRCh38)
5:76377138 (GRCh37)
Canonical SPDI:: NC_000005.10:77081312:T:G
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_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_000005.10:g.77081313T>G, NC_000005.9:g.76377138T>G

Select item 146965024416.

rs1469650244 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:77081216 (GRCh38)
5:76377041 (GRCh37)
Canonical SPDI:: NC_000005.10:77081215:AAA:AA
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77081218del, NC_000005.9:g.76377043del

Select item 146658793917.

rs1466587939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:77080354 (GRCh38)
5:76376179 (GRCh37)
Canonical SPDI:: NC_000005.10:77080353:G:A
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.77080354G>A, NC_000005.9:g.76376179G>A

Select item 146323117218.

rs1463231172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:77081334 (GRCh38)
5:76377159 (GRCh37)
Canonical SPDI:: NC_000005.10:77081333:C:A,NC_000005.10:77081333:C:T
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
T=0.010951/32 (KOREAN)
HGVS:: NC_000005.10:g.77081334C>A, NC_000005.10:g.77081334C>T, NC_000005.9:g.76377159C>A, NC_000005.9:g.76377159C>T

Select item 146186408019.

rs1461864080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:77079963 (GRCh38)
5:76375788 (GRCh37)
Canonical SPDI:: NC_000005.10:77079962:T:C
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.77079963T>C, NC_000005.9:g.76375788T>C

Select item 145942927220.

rs1459429272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:77080854 (GRCh38)
5:76376679 (GRCh37)
Canonical SPDI:: NC_000005.10:77080853:A:G
Gene:: ZBED3 (Varview), SNORA47 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.77080854A>G, NC_000005.9:g.76376679A>G