SNP Links for Gene (Select 780853) - SNP

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Select item 14912397051.

rs1491239705 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:19189569 (GRCh38)
17:19092882 (GRCh37)
Canonical SPDI:: NC_000017.11:19189568:CA:
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000017.11:g.19189569_19189570del, NC_000017.10:g.19092882_19092883del

Select item 14911800112.

rs1491180011 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 17:19189569 (GRCh38)
17:19092883 (GRCh37)
Canonical SPDI:: NC_000017.11:19189569::CA
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
CA=0.01314/91 (TOMMO)
HGVS:: NC_000017.11:g.19189569_19189570insCA, NC_000017.10:g.19092882_19092883insCA

Select item 14898419563.

rs1489841956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19190113 (GRCh38)
17:19093426 (GRCh37)
Canonical SPDI:: NC_000017.11:19190112:G:A
Gene:: SNORD3C (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00112/12 (ALFA)
HGVS:: NC_000017.11:g.19190113G>A, NC_000017.10:g.19093426G>A, NR_006881.1:n.133C>T

Select item 14856934134.

rs1485693413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19189938 (GRCh38)
17:19093251 (GRCh37)
Canonical SPDI:: NC_000017.11:19189937:T:C
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00101/12 (ALFA)
HGVS:: NC_000017.11:g.19189938T>C, NC_000017.10:g.19093251T>C

Select item 14824522825.

rs1482452282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:19189998 (GRCh38)
17:19093311 (GRCh37)
Canonical SPDI:: NC_000017.11:19189997:G:A,NC_000017.11:19189997:G:C
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00184/6 (TOMMO)
A=0.02857/2 (Korea1K)
HGVS:: NC_000017.11:g.19189998G>A, NC_000017.11:g.19189998G>C, NC_000017.10:g.19093311G>A, NC_000017.10:g.19093311G>C

Select item 14819314996.

rs1481931499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19190004 (GRCh38)
17:19093317 (GRCh37)
Canonical SPDI:: NC_000017.11:19190003:G:A
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.19190004G>A, NC_000017.10:g.19093317G>A

Select item 14808773787.

rs1480877378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:19190120 (GRCh38)
17:19093434 (GRCh37)
Canonical SPDI:: NC_000017.11:19190120:A:AA
Gene:: SNORD3C (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000017.11:g.19190121dup, NC_000017.10:g.19093434dup, NR_006881.1:n.125dup

Select item 14807570268.

rs1480757026 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:19189799 (GRCh38)
17:19093113 (GRCh37)
Canonical SPDI:: NC_000017.11:19189799:G:GG
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000017.11:g.19189800dup, NC_000017.10:g.19093113dup

Select item 14792289859.

rs1479228985 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19189583 (GRCh38)
17:19092896 (GRCh37)
Canonical SPDI:: NC_000017.11:19189582:A:G
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000013/1 (GnomAD)
HGVS:: NC_000017.11:g.19189583A>G, NC_000017.10:g.19092896A>G

Select item 147862630210.

rs1478626302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:19190015 (GRCh38)
17:19093328 (GRCh37)
Canonical SPDI:: NC_000017.11:19190014:A:C
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.19190015A>C, NC_000017.10:g.19093328A>C

Select item 147772476611.

rs1477724766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:19189822 (GRCh38)
17:19093135 (GRCh37)
Canonical SPDI:: NC_000017.11:19189821:A:G
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00034/4 (ALFA)
HGVS:: NC_000017.11:g.19189822A>G, NC_000017.10:g.19093135A>G

Select item 147342563512.

rs1473425635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19189956 (GRCh38)
17:19093269 (GRCh37)
Canonical SPDI:: NC_000017.11:19189955:C:T
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
T=0.00177/8 (TOMMO)
T=0.01553/10 (KOREAN)
HGVS:: NC_000017.11:g.19189956C>T, NC_000017.10:g.19093269C>T

Select item 147042643813.

rs1470426438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:19190091 (GRCh38)
17:19093404 (GRCh37)
Canonical SPDI:: NC_000017.11:19190090:G:T
Gene:: SNORD3C (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000017.11:g.19190091G>T, NC_000017.10:g.19093404G>T, NR_006881.1:n.155C>A

Select item 147009657714.

rs1470096577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:19189642 (GRCh38)
17:19092955 (GRCh37)
Canonical SPDI:: NC_000017.11:19189641:G:C
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
C=0.0004/11 (GnomAD)
HGVS:: NC_000017.11:g.19189642G>C, NC_000017.10:g.19092955G>C

Select item 146801806815.

rs1468018068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19189609 (GRCh38)
17:19092922 (GRCh37)
Canonical SPDI:: NC_000017.11:19189608:G:A
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.19189609G>A, NC_000017.10:g.19092922G>A

Select item 146607815416.

rs1466078154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:19189891 (GRCh38)
17:19093204 (GRCh37)
Canonical SPDI:: NC_000017.11:19189890:C:T
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00487/30 (TOMMO)
HGVS:: NC_000017.11:g.19189891C>T, NC_000017.10:g.19093204C>T

Select item 146569132917.

rs1465691329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:19189936 (GRCh38)
17:19093249 (GRCh37)
Canonical SPDI:: NC_000017.11:19189935:C:G,NC_000017.11:19189935:C:T
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.025/2 (Korea1K)
HGVS:: NC_000017.11:g.19189936C>G, NC_000017.11:g.19189936C>T, NC_000017.10:g.19093249C>G, NC_000017.10:g.19093249C>T

Select item 146471604518.

rs1464716045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:19190430 (GRCh38)
17:19093743 (GRCh37)
Canonical SPDI:: NC_000017.11:19190429:G:A
Gene:: SNORD3C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.46645/5533 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.10526/2 (TOMMO)
G=0.16667/4 (KOREAN)
HGVS:: NC_000017.11:g.19190430G>A, NC_000017.10:g.19093743G>A

Select item 146410894119.

rs1464108941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:19190216 (GRCh38)
17:19093529 (GRCh37)
Canonical SPDI:: NC_000017.11:19190215:T:C
Gene:: SNORD3C (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.19190216T>C, NC_000017.10:g.19093529T>C, NR_006881.1:n.30A>G

Select item 146156108120.

rs1461561081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:19189618 (GRCh38)
17:19092931 (GRCh37)
Canonical SPDI:: NC_000017.11:19189617:T:G
Gene:: SNORD3C (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000017.11:g.19189618T>G, NC_000017.10:g.19092931T>G

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