SNP Links for Gene (Select 692076) - SNP

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Select item 14900098151.

rs1490009815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:35574043 (GRCh38)
17:33901062 (GRCh37)
Canonical SPDI:: NC_000017.11:35574042:G:T
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.35574043G>T, NC_000017.10:g.33901062G>T, NG_008447.1:g.9595C>A, NR_135479.1:n.555G>T

Select item 14893919732.

rs1489391973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:35574060 (GRCh38)
17:33901079 (GRCh37)
Canonical SPDI:: NC_000017.11:35574059:A:G
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.004717/1 (Vietnamese)
HGVS:: NC_000017.11:g.35574060A>G, NC_000017.10:g.33901079A>G, NG_008447.1:g.9578T>C, NR_135479.1:n.572A>G

Select item 14888611473.

rs1488861147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:35573473 (GRCh38)
17:33900492 (GRCh37)
Canonical SPDI:: NC_000017.11:35573472:G:C
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.35573473G>C, NC_000017.10:g.33900492G>C, NG_008447.1:g.10165C>G

Select item 14868958504.

rs1486895850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35572331 (GRCh38)
17:33899350 (GRCh37)
Canonical SPDI:: NC_000017.11:35572330:C:T
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.35572331C>T, NC_000017.10:g.33899350C>T

Select item 14867638395.

rs1486763839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:35573554 (GRCh38)
17:33900573 (GRCh37)
Canonical SPDI:: NC_000017.11:35573553:A:G
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35573554A>G, NC_000017.10:g.33900573A>G, NG_008447.1:g.10084T>C

Select item 14863647966.

rs1486364796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:35572196 (GRCh38)
17:33899215 (GRCh37)
Canonical SPDI:: NC_000017.11:35572195:A:G
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.35572196A>G, NC_000017.10:g.33899215A>G

Select item 14859006737.

rs1485900673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35571791 (GRCh38)
17:33898810 (GRCh37)
Canonical SPDI:: NC_000017.11:35571790:C:T
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35571791C>T, NC_000017.10:g.33898810C>T

Select item 14858075438.

rs1485807543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:35572980 (GRCh38)
17:33899999 (GRCh37)
Canonical SPDI:: NC_000017.11:35572979:G:A,NC_000017.11:35572979:G:C
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.35572980G>A, NC_000017.11:g.35572980G>C, NC_000017.10:g.33899999G>A, NC_000017.10:g.33899999G>C, NG_008447.1:g.10658C>T, NG_008447.1:g.10658C>G

Select item 14838135039.

rs1483813503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:35572146 (GRCh38)
17:33899165 (GRCh37)
Canonical SPDI:: NC_000017.11:35572145:G:A,NC_000017.11:35572145:G:T
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.35572146G>A, NC_000017.11:g.35572146G>T, NC_000017.10:g.33899165G>A, NC_000017.10:g.33899165G>T

Select item 148208436810.

rs1482084368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35573286 (GRCh38)
17:33900305 (GRCh37)
Canonical SPDI:: NC_000017.11:35573285:G:A
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35573286G>A, NC_000017.10:g.33900305G>A, NG_008447.1:g.10352C>T

Select item 148142242111.

rs1481422421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:35571885 (GRCh38)
17:33898904 (GRCh37)
Canonical SPDI:: NC_000017.11:35571884:T:C
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.35571885T>C, NC_000017.10:g.33898904T>C

Select item 148128962912.

rs1481289629 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 17:35573199 (GRCh38)
17:33900218 (GRCh37)
Canonical SPDI:: NC_000017.11:35573186:ATATATATATATAT:ATATATATATAT,NC_000017.11:35573186:ATATATATATATAT:ATATATATATATATAT
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.35573187AT[6], NC_000017.11:g.35573187AT[8], NC_000017.10:g.33900206AT[6], NC_000017.10:g.33900206AT[8], NG_008447.1:g.10438AT[6], NG_008447.1:g.10438AT[8]

Select item 147893409613.

rs1478934096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35573871 (GRCh38)
17:33900890 (GRCh37)
Canonical SPDI:: NC_000017.11:35573870:C:T
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.35573871C>T, NC_000017.10:g.33900890C>T, NG_008447.1:g.9767G>A

Select item 147642977914.

rs1476429779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:35573643 (GRCh38)
17:33900662 (GRCh37)
Canonical SPDI:: NC_000017.11:35573642:G:C
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35573643G>C, NC_000017.10:g.33900662G>C, NG_008447.1:g.9995C>G

Select item 147635565615.

rs1476355656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:35572454 (GRCh38)
17:33899473 (GRCh37)
Canonical SPDI:: NC_000017.11:35572453:C:T
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.35572454C>T, NC_000017.10:g.33899473C>T

Select item 147540609216.

rs1475406092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35571873 (GRCh38)
17:33898892 (GRCh37)
Canonical SPDI:: NC_000017.11:35571872:G:A
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.35571873G>A, NC_000017.10:g.33898892G>A

Select item 147472713217.

rs1474727132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35572970 (GRCh38)
17:33899989 (GRCh37)
Canonical SPDI:: NC_000017.11:35572969:G:A
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.35572970G>A, NC_000017.10:g.33899989G>A, NG_008447.1:g.10668C>T

Select item 147439718518.

rs1474397185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:35572858 (GRCh38)
17:33899877 (GRCh37)
Canonical SPDI:: NC_000017.11:35572857:A:G
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.35572858A>G, NC_000017.10:g.33899877A>G, NG_008447.1:g.10780T>C

Select item 147314291519.

rs1473142915 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:35574079 (GRCh38)
17:33901098 (GRCh37)
Canonical SPDI:: NC_000017.11:35574078:GG:G
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.35574080del, NC_000017.10:g.33901099del, NG_008447.1:g.9559del, NR_135479.1:n.592del

Select item 146901525920.

rs1469015259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:35572746 (GRCh38)
17:33899765 (GRCh37)
Canonical SPDI:: NC_000017.11:35572745:G:A
Gene:: SNORD7 (Varview), SNHG30 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.35572746G>A, NC_000017.10:g.33899765G>A

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