SNP Links for Nucleotide (Select 595763558) - SNP

Links from Nucleotide

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Select item 14906974421.

rs1490697442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205976440 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205976439:A:G
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.205976440A>G, NR_110983.1:n.749A>G, NR_110984.1:n.721A>G

Select item 14891460442.

rs1489146044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205977545 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977544:T:C
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.205977545T>C, NM_177403.6:c.*1306A>G, NM_177403.5:c.*1306A>G, NM_177403.4:c.*1306A>G, NM_001164522.3:c.*1306A>G, NM_001164522.2:c.*1306A>G, NM_001164522.1:c.*1306A>G, NM_001304839.2:c.*1306A>G, NM_001304839.1:c.*1306A>G, NR_110983.1:n.1854T>C, NR_110984.1:n.1826T>C

Select item 14884396463.

rs1488439646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:205976356 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205976355:G:T
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_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_000001.11:g.205976356G>T, NR_110983.1:n.665G>T, NR_110984.1:n.637G>T

Select item 14884107614.

rs1488410761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:205977472 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977471:C:A
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.205977472C>A, NM_177403.6:c.*1379G>T, NM_177403.5:c.*1379G>T, NM_177403.4:c.*1379G>T, NM_001164522.3:c.*1379G>T, NM_001164522.2:c.*1379G>T, NM_001164522.1:c.*1379G>T, NM_001304839.2:c.*1379G>T, NM_001304839.1:c.*1379G>T, NR_110983.1:n.1781C>A, NR_110984.1:n.1753C>A

Select item 14880075965.

rs1488007596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:205976931 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205976930:A:C
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.205976931A>C, NM_177403.6:c.*1920T>G, NM_177403.5:c.*1920T>G, NM_177403.4:c.*1920T>G, NM_001164522.3:c.*1920T>G, NM_001164522.2:c.*1920T>G, NM_001164522.1:c.*1920T>G, NM_001304839.2:c.*1920T>G, NM_001304839.1:c.*1920T>G, NR_110983.1:n.1240A>C, NR_110984.1:n.1212A>C, NM_032769.1:c.57T>G

Select item 14848443626.

rs1484844362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:205976833 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205976832:G:A,NC_000001.11:205976832:G:T
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.205976833G>A, NC_000001.11:g.205976833G>T, NM_177403.6:c.*2018C>T, NM_177403.6:c.*2018C>A, NM_177403.5:c.*2018C>T, NM_177403.5:c.*2018C>A, NM_177403.4:c.*2018C>T, NM_177403.4:c.*2018C>A, NM_001164522.3:c.*2018C>T, NM_001164522.3:c.*2018C>A, NM_001164522.2:c.*2018C>T, NM_001164522.2:c.*2018C>A, NM_001164522.1:c.*2018C>T, NM_001164522.1:c.*2018C>A, NM_001304839.2:c.*2018C>T, NM_001304839.2:c.*2018C>A, NM_001304839.1:c.*2018C>T, NM_001304839.1:c.*2018C>A, NR_110983.1:n.1142G>A, NR_110983.1:n.1142G>T, NR_110984.1:n.1114G>A, NR_110984.1:n.1114G>T, NM_032769.1:c.155C>T, NM_032769.1:c.155C>A

Select item 14848130777.

rs1484813077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:205977912 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977911:G:C
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.205977912G>C, NM_177403.6:c.*939C>G, NM_177403.5:c.*939C>G, NM_177403.4:c.*939C>G, NM_001164522.3:c.*939C>G, NM_001164522.2:c.*939C>G, NM_001164522.1:c.*939C>G, NM_001304839.2:c.*939C>G, NM_001304839.1:c.*939C>G, NR_110983.1:n.2221G>C, NR_110984.1:n.2193G>C

Select item 14843827338.

rs1484382733 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:205977818 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977817:CC:C
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000312/2 (1000Genomes)
-=0.0023/65 (TOMMO)
HGVS:: NC_000001.11:g.205977819del, NM_177403.6:c.*1033del, NM_177403.5:c.*1033del, NM_177403.4:c.*1033del, NM_001164522.3:c.*1033del, NM_001164522.2:c.*1033del, NM_001164522.1:c.*1033del, NM_001304839.2:c.*1033del, NM_001304839.1:c.*1033del, NR_110983.1:n.2128del, NR_110984.1:n.2100del

Select item 14797316619.

rs1479731661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:205935697 (GRCh38)
1:205904825 (GRCh37)
Canonical SPDI:: NC_000001.11:205935696:T:G
Gene:: SLC26A9 (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205935697T>G, NC_000001.10:g.205904825T>G, NM_052934.4:c.124A>C, NM_052934.3:c.124A>C, NM_134325.3:c.124A>C, NM_134325.2:c.124A>C, XM_011509124.3:c.124A>C, XM_011509124.2:c.124A>C, XM_011509124.1:c.124A>C, NR_110983.1:n.159T>G, NR_110984.1:n.131T>G, XM_047443936.1:c.124A>C

Select item 147954076310.

rs1479540763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:205977278 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977277:A:T
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205977278A>T, NM_177403.6:c.*1573T>A, NM_177403.5:c.*1573T>A, NM_177403.4:c.*1573T>A, NM_001164522.3:c.*1573T>A, NM_001164522.2:c.*1573T>A, NM_001164522.1:c.*1573T>A, NM_001304839.2:c.*1573T>A, NM_001304839.1:c.*1573T>A, NR_110983.1:n.1587A>T, NR_110984.1:n.1559A>T, NM_032769.1:c.-291G>T, NM_032769.1:c.-291G>A

Select item 147839916711.

rs1478399167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205977104 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977103:C:T
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205977104C>T, NM_177403.6:c.*1747G>A, NM_177403.5:c.*1747G>A, NM_177403.4:c.*1747G>A, NM_001164522.3:c.*1747G>A, NM_001164522.2:c.*1747G>A, NM_001164522.1:c.*1747G>A, NM_001304839.2:c.*1747G>A, NM_001304839.1:c.*1747G>A, NR_110983.1:n.1413C>T, NR_110984.1:n.1385C>T, NM_032769.1:c.-117G>A

Select item 147803143712.

rs1478031437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205976528 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205976527:G:A
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205976528G>A, NR_110983.1:n.837G>A, NR_110984.1:n.809G>A

Select item 147796930813.

rs1477969308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205977537 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977536:C:T
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_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_000001.11:g.205977537C>T, NM_177403.6:c.*1314G>A, NM_177403.5:c.*1314G>A, NM_177403.4:c.*1314G>A, NM_001164522.3:c.*1314G>A, NM_001164522.2:c.*1314G>A, NM_001164522.1:c.*1314G>A, NM_001304839.2:c.*1314G>A, NM_001304839.1:c.*1314G>A, NR_110983.1:n.1846C>T, NR_110984.1:n.1818C>T

Select item 147770658814.

rs1477706588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205976108 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205976107:C:T
Gene:: SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_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_000001.11:g.205976108C>T, NR_110983.1:n.417C>T, NR_110984.1:n.389C>T

Select item 147717347715.

rs1477173477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205971753 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205971752:G:A
Gene:: SLC26A9-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.205971753G>A, NW_004070863.1:g.24049G>A, NR_110983.1:n.296G>A, NR_110984.1:n.268G>A

Select item 147437950416.

rs1474379504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205978026 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205978025:C:T
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205978026C>T, NM_177403.6:c.*825G>A, NM_177403.5:c.*825G>A, NM_177403.4:c.*825G>A, NM_001164522.3:c.*825G>A, NM_001164522.2:c.*825G>A, NM_001164522.1:c.*825G>A, NM_001304839.2:c.*825G>A, NM_001304839.1:c.*825G>A, NR_110983.1:n.2335C>T, NR_110984.1:n.2307C>T

Select item 147409037117.

rs1474090371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205976905 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205976904:C:T
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00006/16 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.205976905C>T, NM_177403.6:c.*1946G>A, NM_177403.5:c.*1946G>A, NM_177403.4:c.*1946G>A, NM_001164522.3:c.*1946G>A, NM_001164522.2:c.*1946G>A, NM_001164522.1:c.*1946G>A, NM_001304839.2:c.*1946G>A, NM_001304839.1:c.*1946G>A, NR_110983.1:n.1214C>T, NR_110984.1:n.1186C>T, NM_032769.1:c.83G>A

Select item 147232141718.

rs1472321417 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205977442 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:205977441:A:G
Gene:: RAB7B (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.205977442A>G, NM_177403.6:c.*1409T>C, NM_177403.5:c.*1409T>C, NM_177403.4:c.*1409T>C, NM_001164522.3:c.*1409T>C, NM_001164522.2:c.*1409T>C, NM_001164522.1:c.*1409T>C, NM_001304839.2:c.*1409T>C, NM_001304839.1:c.*1409T>C, NR_110983.1:n.1751A>G, NR_110984.1:n.1723A>G

Select item 147044294919.

rs1470442949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205935617 (GRCh38)
1:205904745 (GRCh37)
Canonical SPDI:: NC_000001.11:205935616:T:C
Gene:: SLC26A9 (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.205935617T>C, NC_000001.10:g.205904745T>C, NR_110983.1:n.79T>C, NR_110984.1:n.51T>C

Select item 146964175020.

rs1469641750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205935643 (GRCh38)
1:205904771 (GRCh37)
Canonical SPDI:: NC_000001.11:205935642:A:G
Gene:: SLC26A9 (Varview), SLC26A9-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205935643A>G, NC_000001.10:g.205904771A>G, NR_110983.1:n.105A>G, NR_110984.1:n.77A>G

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