SNP Links for Gene (Select 440400) - SNP

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Select item 14889596921.

rs1488959692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7014736 (GRCh38)
17:6918055 (GRCh37)
Canonical SPDI:: NC_000017.11:7014735:C:T
Gene:: C17orf49 (Varview), RNASEK (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.7014736C>T, NC_000017.10:g.6918055C>T, NR_037717.1:n.1010C>T

Select item 14886467522.

rs1488646752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7011500 (GRCh38)
17:6914819 (GRCh37)
Canonical SPDI:: NC_000017.11:7011499:C:T
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7011500C>T, NC_000017.10:g.6914819C>T

Select item 14886342003.

rs1488634200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7011927 (GRCh38)
17:6915246 (GRCh37)
Canonical SPDI:: NC_000017.11:7011926:T:C
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (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.7011927T>C, NC_000017.10:g.6915246T>C

Select item 14884869174.

rs1488486917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7011032 (GRCh38)
17:6914351 (GRCh37)
Canonical SPDI:: NC_000017.11:7011031:G:A
Gene:: ALOX12 (Varview), RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7011032G>A, NC_000017.10:g.6914351G>A

Select item 14881081525.

rs1488108152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7014625 (GRCh38)
17:6917944 (GRCh37)
Canonical SPDI:: NC_000017.11:7014624:A:G
Gene:: C17orf49 (Varview), RNASEK (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7014625A>G, NC_000017.10:g.6917944A>G, NR_037717.1:n.899A>G

Select item 14858322546.

rs1485832254 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGAGCCCGCTTGC>- [Show Flanks]
Chromosome:: 17:7012643 (GRCh38)
17:6915962 (GRCh37)
Canonical SPDI:: NC_000017.11:7012641:CCGAGCCCGCTTGC:C
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7012643_7012655del, NC_000017.10:g.6915962_6915974del, NM_001004333.5:c.-41_-29del, NM_001004333.4:c.77_89del, NR_037715.2:n.20_32del, NR_037715.1:n.227_239del, NR_037716.2:n.20_32del, NR_037716.1:n.227_239del, NR_037717.1:n.227_239del

Select item 14857593427.

rs1485759342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7013595 (GRCh38)
17:6916914 (GRCh37)
Canonical SPDI:: NC_000017.11:7013594:G:A
Gene:: C17orf49 (Varview), RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7013595G>A, NC_000017.10:g.6916914G>A

Select item 14857443648.

rs1485744364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7014808 (GRCh38)
17:6918127 (GRCh37)
Canonical SPDI:: NC_000017.11:7014807:C:G
Gene:: C17orf49 (Varview), RNASEK (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7014808C>G, NC_000017.10:g.6918127C>G, NM_174893.4:c.-50C>G, NM_174893.3:c.-50C>G, NM_001142798.3:c.-50C>G, NM_001142798.2:c.-50C>G, NM_001142799.3:c.-50C>G, NM_001142799.2:c.-50C>G, NR_037717.1:n.1082C>G

Select item 14857367159.

rs1485736715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7012267 (GRCh38)
17:6915586 (GRCh37)
Canonical SPDI:: NC_000017.11:7012266:G:C
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7012267G>C, NC_000017.10:g.6915586G>C, NR_040089.1:n.68C>G

Select item 148421728510.

rs1484217285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7012148 (GRCh38)
17:6915467 (GRCh37)
Canonical SPDI:: NC_000017.11:7012147:G:A
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7012148G>A, NC_000017.10:g.6915467G>A

Select item 148386915111.

rs1483869151 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7010829 (GRCh38)
17:6914148 (GRCh37)
Canonical SPDI:: NC_000017.11:7010828:A:G
Gene:: ALOX12 (Varview), RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_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_000017.11:g.7010829A>G, NC_000017.10:g.6914148A>G

Select item 148383391112.

rs1483833911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:7012044 (GRCh38)
17:6915363 (GRCh37)
Canonical SPDI:: NC_000017.11:7012043:A:C
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7012044A>C, NC_000017.10:g.6915363A>C

Select item 148382722313.

rs1483827223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7014572 (GRCh38)
17:6917891 (GRCh37)
Canonical SPDI:: NC_000017.11:7014571:G:A
Gene:: C17orf49 (Varview), RNASEK (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7014572G>A, NC_000017.10:g.6917891G>A, NR_037717.1:n.846G>A

Select item 148313274514.

rs1483132745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7013406 (GRCh38)
17:6916725 (GRCh37)
Canonical SPDI:: NC_000017.11:7013405:C:T
Gene:: C17orf49 (Varview), RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7013406C>T, NC_000017.10:g.6916725C>T, NR_037715.2:n.226C>T, NR_037715.1:n.433C>T

Select item 148287291915.

rs1482872919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7014017 (GRCh38)
17:6917336 (GRCh37)
Canonical SPDI:: NC_000017.11:7014016:T:C
Gene:: C17orf49 (Varview), RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.7014017T>C, NC_000017.10:g.6917336T>C

Select item 147987179816.

rs1479871798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7011061 (GRCh38)
17:6914380 (GRCh37)
Canonical SPDI:: NC_000017.11:7011060:A:T
Gene:: ALOX12 (Varview), RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000017.11:g.7011061A>T, NC_000017.10:g.6914380A>T

Select item 147954548317.

rs1479545483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7012317 (GRCh38)
17:6915636 (GRCh37)
Canonical SPDI:: NC_000017.11:7012316:C:T
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7012317C>T, NC_000017.10:g.6915636C>T, NR_040089.1:n.18G>A

Select item 147941395518.

rs1479413955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:7011506 (GRCh38)
17:6914825 (GRCh37)
Canonical SPDI:: NC_000017.11:7011505:G:A,NC_000017.11:7011505:G:T
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.7011506G>A, NC_000017.11:g.7011506G>T, NC_000017.10:g.6914825G>A, NC_000017.10:g.6914825G>T

Select item 147926971819.

rs1479269718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7012731 (GRCh38)
17:6916050 (GRCh37)
Canonical SPDI:: NC_000017.11:7012730:C:T
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.7012731C>T, NC_000017.10:g.6916050C>T, NM_001004333.5:c.48C>T, NM_001004333.4:c.165C>T, NR_037715.2:n.108C>T, NR_037715.1:n.315C>T, NR_037716.2:n.108C>T, NR_037716.1:n.315C>T, NR_037717.1:n.315C>T

Select item 147874145920.

rs1478741459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7011579 (GRCh38)
17:6914898 (GRCh37)
Canonical SPDI:: NC_000017.11:7011578:A:T
Gene:: RNASEK (Varview), ALOX12-AS1 (Varview), RNASEK-C17orf49 (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.7011579A>T, NC_000017.10:g.6914898A>T

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