SNP Links for Nucleotide (Select 952556253) - SNP

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Links from Nucleotide

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Select item 14891458191.

rs1489145819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:21216803 (GRCh38)
9:21216802 (GRCh37)
Canonical SPDI:: NC_000009.12:21216802:C:G,NC_000009.12:21216802:C:T
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.21216803C>G, NC_000009.12:g.21216803C>T, NC_000009.11:g.21216802C>G, NC_000009.11:g.21216802C>T, NM_002173.3:c.503G>C, NM_002173.3:c.503G>A, NM_002173.2:c.503G>C, NM_002173.2:c.503G>A, NP_002164.1:p.Arg168Thr, NP_002164.1:p.Arg168Lys

Select item 14889460062.

rs1488946006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:21217241 (GRCh38)
9:21217240 (GRCh37)
Canonical SPDI:: NC_000009.12:21217240:A:G
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.21217241A>G, NC_000009.11:g.21217240A>G, NM_002173.3:c.65T>C, NM_002173.2:c.65T>C, NP_002164.1:p.Leu22Pro

Select item 14887012593.

rs1488701259 [Homo sapiens]

Variant type:: DEL
Alleles:: GCAAG>- [Show Flanks]
Chromosome:: 9:21216762 (GRCh38)
9:21216761 (GRCh37)
Canonical SPDI:: NC_000009.12:21216761:GCAAG:
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0012/11 (ALFA)
HGVS:: NC_000009.12:g.21216762_21216766del, NC_000009.11:g.21216761_21216765del, NM_002173.3:c.540_544del, NM_002173.2:c.540_544del, NP_002164.1:p.Asn180fs

Select item 14864082424.

rs1486408242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:21216510 (GRCh38)
9:21216509 (GRCh37)
Canonical SPDI:: NC_000009.12:21216509:A:C
Gene:: IFNA16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.21216510A>C, NC_000009.11:g.21216509A>C, NM_002173.3:c.*226T>G, NM_002173.2:c.*226T>G

Select item 14847987785.

rs1484798778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:21216881 (GRCh38)
9:21216880 (GRCh37)
Canonical SPDI:: NC_000009.12:21216880:G:T
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.21216881G>T, NC_000009.11:g.21216880G>T, NM_002173.3:c.425C>A, NM_002173.2:c.425C>A, NP_002164.1:p.Ala142Asp

Select item 14777386086.

rs1477738608 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:21216965 (GRCh38)
9:21216964 (GRCh37)
Canonical SPDI:: NC_000009.12:21216964:T:
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.21216965del, NC_000009.11:g.21216964del, NM_002173.3:c.341del, NM_002173.2:c.341del, NP_002164.1:p.Gln114fs

Select item 14765689117.

rs1476568911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:21216804 (GRCh38)
9:21216803 (GRCh37)
Canonical SPDI:: NC_000009.12:21216803:T:C
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.21216804T>C, NC_000009.11:g.21216803T>C, NM_002173.3:c.502A>G, NM_002173.2:c.502A>G, NP_002164.1:p.Arg168Gly

Select item 14758934848.

rs1475893484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:21216393 (GRCh38)
9:21216392 (GRCh37)
Canonical SPDI:: NC_000009.12:21216392:A:C
Gene:: IFNA16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000212/4 (TOMMO)
C=0.001711/5 (KOREAN)
C=0.002729/5 (Korea1K)
HGVS:: NC_000009.12:g.21216393A>C, NC_000009.11:g.21216392A>C, NM_002173.3:c.*343T>G, NM_002173.2:c.*343T>G

Select item 14754507679.

rs1475450767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:21216582 (GRCh38)
9:21216581 (GRCh37)
Canonical SPDI:: NC_000009.12:21216581:G:A,NC_000009.12:21216581:G:T
Gene:: IFNA16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000009.12:g.21216582G>A, NC_000009.12:g.21216582G>T, NC_000009.11:g.21216581G>A, NC_000009.11:g.21216581G>T, NM_002173.3:c.*154C>T, NM_002173.3:c.*154C>A, NM_002173.2:c.*154C>T, NM_002173.2:c.*154C>A

Select item 146884162010.

rs1468841620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:21216913 (GRCh38)
9:21216912 (GRCh37)
Canonical SPDI:: NC_000009.12:21216912:C:A,NC_000009.12:21216912:C:T
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.21216913C>A, NC_000009.12:g.21216913C>T, NC_000009.11:g.21216912C>A, NC_000009.11:g.21216912C>T, NM_002173.3:c.393G>T, NM_002173.3:c.393G>A, NM_002173.2:c.393G>T, NM_002173.2:c.393G>A, NP_002164.1:p.Glu131Asp

Select item 146560518011.

rs1465605180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:21216773 (GRCh38)
9:21216772 (GRCh37)
Canonical SPDI:: NC_000009.12:21216772:G:T
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000009.12:g.21216773G>T, NC_000009.11:g.21216772G>T, NM_002173.3:c.533C>A, NM_002173.2:c.533C>A, NP_002164.1:p.Ser178Ter

Select item 146204452412.

rs1462044524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:21217301 (GRCh38)
9:21217300 (GRCh37)
Canonical SPDI:: NC_000009.12:21217300:G:A
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.21217301G>A, NC_000009.11:g.21217300G>A, NM_002173.3:c.5C>T, NM_002173.2:c.5C>T, NP_002164.1:p.Ala2Val

Select item 145975923713.

rs1459759237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:21217099 (GRCh38)
9:21217098 (GRCh37)
Canonical SPDI:: NC_000009.12:21217098:G:A,NC_000009.12:21217098:G:T
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.21217099G>A, NC_000009.12:g.21217099G>T, NC_000009.11:g.21217098G>A, NC_000009.11:g.21217098G>T, NM_002173.3:c.207C>T, NM_002173.3:c.207C>A, NM_002173.2:c.207C>T, NM_002173.2:c.207C>A, NP_002164.1:p.Asn69Lys

Select item 145943527314.

rs1459435273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:21216668 (GRCh38)
9:21216667 (GRCh37)
Canonical SPDI:: NC_000009.12:21216667:G:A
Gene:: IFNA16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.21216668G>A, NC_000009.11:g.21216667G>A, NM_002173.3:c.*68C>T, NM_002173.2:c.*68C>T

Select item 145722932715.

rs1457229327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:21216930 (GRCh38)
9:21216929 (GRCh37)
Canonical SPDI:: NC_000009.12:21216929:C:A,NC_000009.12:21216929:C:T
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.21216930C>A, NC_000009.12:g.21216930C>T, NC_000009.11:g.21216929C>A, NC_000009.11:g.21216929C>T, NM_002173.3:c.376G>T, NM_002173.3:c.376G>A, NM_002173.2:c.376G>T, NM_002173.2:c.376G>A, NP_002164.1:p.Glu126Ter, NP_002164.1:p.Glu126Lys

Select item 145444266516.

rs1454442665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:21216419 (GRCh38)
9:21216418 (GRCh37)
Canonical SPDI:: NC_000009.12:21216418:A:G
Gene:: IFNA16 (Varview)
Functional Consequence:: 3_prime_UTR_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_000009.12:g.21216419A>G, NC_000009.11:g.21216418A>G, NM_002173.3:c.*317T>C, NM_002173.2:c.*317T>C

Select item 144722958217.

rs1447229582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:21216928 (GRCh38)
9:21216927 (GRCh37)
Canonical SPDI:: NC_000009.12:21216927:C:A,NC_000009.12:21216927:C:G,NC_000009.12:21216927:C:T
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.21216928C>A, NC_000009.12:g.21216928C>G, NC_000009.12:g.21216928C>T, NC_000009.11:g.21216927C>A, NC_000009.11:g.21216927C>G, NC_000009.11:g.21216927C>T, NM_002173.3:c.378G>T, NM_002173.3:c.378G>C, NM_002173.3:c.378G>A, NM_002173.2:c.378G>T, NM_002173.2:c.378G>C, NM_002173.2:c.378G>A, NP_002164.1:p.Glu126Asp, NP_002164.1:p.Glu126Asp

Select item 144705661018.

rs1447056610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:21216648 (GRCh38)
9:21216647 (GRCh37)
Canonical SPDI:: NC_000009.12:21216647:T:C
Gene:: IFNA16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.21216648T>C, NC_000009.11:g.21216647T>C, NM_002173.3:c.*88A>G, NM_002173.2:c.*88A>G

Select item 144649897519.

rs1446498975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:21216732 (GRCh38)
9:21216731 (GRCh37)
Canonical SPDI:: NC_000009.12:21216731:G:A,NC_000009.12:21216731:G:C
Gene:: IFNA16 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.21216732G>A, NC_000009.12:g.21216732G>C, NC_000009.11:g.21216731G>A, NC_000009.11:g.21216731G>C, NM_002173.3:c.*4C>T, NM_002173.3:c.*4C>G, NM_002173.2:c.*4C>T, NM_002173.2:c.*4C>G

Select item 144480385020.

rs1444803850 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 9:21217299 (GRCh38)
9:21217298 (GRCh37)
Canonical SPDI:: NC_000009.12:21217298:GGG:GG
Gene:: IFNA16 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.21217301del, NC_000009.11:g.21217300del, NM_002173.3:c.7del, NM_002173.2:c.7del, NP_002164.1:p.Leu3fs

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