SNP Links for Gene (Select 619562) - SNP

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Links from Gene

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Select item 14905089741.

rs1490508974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:8683228 (GRCh38)
11:8704775 (GRCh37)
Canonical SPDI:: NC_000011.10:8683227:A:G
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8683228A>G, NC_000011.9:g.8704775A>G, NM_000990.5:c.30A>G, NM_000990.4:c.30A>G, XM_017018629.2:c.-1009T>C, NM_001388024.1:c.-1045T>C

Select item 14895663722.

rs1489566372 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAAGTCAACAGATGT>- [Show Flanks]
Chromosome:: 11:8684574 (GRCh38)
11:8706121 (GRCh37)
Canonical SPDI:: NC_000011.10:8684570:TGTTTAAGTCAACAGATGT:TGT
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.8684574_8684589del, NC_000011.9:g.8706121_8706136del

Select item 14887476923.

rs1488747692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:8684373 (GRCh38)
11:8705920 (GRCh37)
Canonical SPDI:: NC_000011.10:8684372:C:A
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8684373C>A, NC_000011.9:g.8705920C>A

Select item 14882041404.

rs1488204140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:8684192 (GRCh38)
11:8705739 (GRCh37)
Canonical SPDI:: NC_000011.10:8684191:C:A
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.8684192C>A, NC_000011.9:g.8705739C>A

Select item 14876170755.

rs1487617075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:8684350 (GRCh38)
11:8705897 (GRCh37)
Canonical SPDI:: NC_000011.10:8684349:G:C
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.8684350G>C, NC_000011.9:g.8705897G>C, NR_002580.1:n.124G>C

Select item 14876070266.

rs1487607026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:8683729 (GRCh38)
11:8705276 (GRCh37)
Canonical SPDI:: NC_000011.10:8683728:G:A
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.8683729G>A, NC_000011.9:g.8705276G>A

Select item 14874731767.

rs1487473176 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:8682947 (GRCh38)
11:8704494 (GRCh37)
Canonical SPDI:: NC_000011.10:8682946:GGG:GG
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.8682949del, NC_000011.9:g.8704496del, XM_017018629.2:c.-728del, XM_017018629.1:c.-728del, NM_001388024.1:c.-764del

Select item 14870825908.

rs1487082590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:8682882 (GRCh38)
11:8704429 (GRCh37)
Canonical SPDI:: NC_000011.10:8682881:C:A,NC_000011.10:8682881:C:T
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_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.8682882C>A, NC_000011.10:g.8682882C>T, NC_000011.9:g.8704429C>A, NC_000011.9:g.8704429C>T, XM_017018629.2:c.-663G>T, XM_017018629.2:c.-663G>A, XM_017018629.1:c.-663G>T, XM_017018629.1:c.-663G>A, NM_001388024.1:c.-699G>T, NM_001388024.1:c.-699G>A

Select item 14863733229.

rs1486373322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8682427 (GRCh38)
11:8703974 (GRCh37)
Canonical SPDI:: NC_000011.10:8682426:C:T
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000068/5 (GnomAD)
HGVS:: NC_000011.10:g.8682427C>T, NC_000011.9:g.8703974C>T

Select item 148492490610.

rs1484924906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:8684572 (GRCh38)
11:8706119 (GRCh37)
Canonical SPDI:: NC_000011.10:8684571:G:A
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.8684572G>A, NC_000011.9:g.8706119G>A

Select item 148474036211.

rs1484740362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:8682898 (GRCh38)
11:8704445 (GRCh37)
Canonical SPDI:: NC_000011.10:8682897:C:G,NC_000011.10:8682897:C:T
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.8682898C>G, NC_000011.10:g.8682898C>T, NC_000011.9:g.8704445C>G, NC_000011.9:g.8704445C>T, XM_017018629.2:c.-679G>C, XM_017018629.2:c.-679G>A, XM_017018629.1:c.-679G>C, XM_017018629.1:c.-679G>A, NM_001388024.1:c.-715G>C, NM_001388024.1:c.-715G>A

Select item 148456087812.

rs1484560878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:8682232 (GRCh38)
11:8703779 (GRCh37)
Canonical SPDI:: NC_000011.10:8682231:G:C
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.8682232G>C, NC_000011.9:g.8703779G>C

Select item 148234761613.

rs1482347616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8683077 (GRCh38)
11:8704624 (GRCh37)
Canonical SPDI:: NC_000011.10:8683076:C:T
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.8683077C>T, NC_000011.9:g.8704624C>T, XM_017018629.2:c.-858G>A, XM_017018629.1:c.-858G>A, NM_001388024.1:c.-894G>A

Select item 148201720514.

rs1482017205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:8683435 (GRCh38)
11:8704982 (GRCh37)
Canonical SPDI:: NC_000011.10:8683434:C:G
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.8683435C>G, NC_000011.9:g.8704982C>G

Select item 148099823615.

rs1480998236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:8683934 (GRCh38)
11:8705481 (GRCh37)
Canonical SPDI:: NC_000011.10:8683933:C:A,NC_000011.10:8683933:C:G,NC_000011.10:8683933:C:T
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.8683934C>A, NC_000011.10:g.8683934C>G, NC_000011.10:g.8683934C>T, NC_000011.9:g.8705481C>A, NC_000011.9:g.8705481C>G, NC_000011.9:g.8705481C>T

Select item 148070344816.

rs1480703448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:8683168 (GRCh38)
11:8704715 (GRCh37)
Canonical SPDI:: NC_000011.10:8683167:C:A,NC_000011.10:8683167:C:T
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8683168C>A, NC_000011.10:g.8683168C>T, NC_000011.9:g.8704715C>A, NC_000011.9:g.8704715C>T, XM_017018629.2:c.-949G>T, XM_017018629.2:c.-949G>A, XM_017018629.1:c.-949G>T, XM_017018629.1:c.-949G>A, NM_001388024.1:c.-985G>T, NM_001388024.1:c.-985G>A

Select item 148024780417.

rs1480247804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:8682324 (GRCh38)
11:8703871 (GRCh37)
Canonical SPDI:: NC_000011.10:8682323:C:A
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8682324C>A, NC_000011.9:g.8703871C>A

Select item 147914097918.

rs1479140979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8683942 (GRCh38)
11:8705489 (GRCh37)
Canonical SPDI:: NC_000011.10:8683941:T:C
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.8683942T>C, NC_000011.9:g.8705489T>C

Select item 147903477419.

rs1479034774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8683712 (GRCh38)
11:8705259 (GRCh37)
Canonical SPDI:: NC_000011.10:8683711:C:T
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.8683712C>T, NC_000011.9:g.8705259C>T

Select item 147900311220.

rs1479003112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8684652 (GRCh38)
11:8706199 (GRCh37)
Canonical SPDI:: NC_000011.10:8684651:T:C
Gene:: RPL27A (Varview), TRIM66 (Varview), SNORA3A (Varview), SNORA3B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.8684652T>C, NC_000011.9:g.8706199T>C