SNP Links for Nucleotide (Select 206597519) - SNP

Links from Nucleotide

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Select item 14904026481.

rs1490402648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:27759031 (GRCh38)
17:26086057 (GRCh37)
Canonical SPDI:: NC_000017.11:27759030:C:T
Gene:: NOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.27759031C>T, NC_000017.10:g.26086057C>T, NG_011470.1:g.46499G>A, NM_000625.4:c.3204G>A, NM_153292.1:c.3087G>A

Select item 14889715232.

rs1488971523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27765617 (GRCh38)
17:26092643 (GRCh37)
Canonical SPDI:: NC_000017.11:27765616:G:A
Gene:: NOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.27765617G>A, NC_000017.10:g.26092643G>A, NG_011470.1:g.39913C>T, NM_000625.4:c.2346C>T, NM_153292.1:c.2229C>T

Select item 14884575143.

rs1488457514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27756901 (GRCh38)
17:26083927 (GRCh37)
Canonical SPDI:: NC_000017.11:27756900:G:A
Gene:: NOS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.27756901G>A, NC_000017.10:g.26083927G>A, NG_011470.1:g.48629C>T, NM_000625.4:c.*345C>T, NM_153292.1:c.*345C>T

Select item 14877559034.

rs1487755903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:27765663 (GRCh38)
17:26092689 (GRCh37)
Canonical SPDI:: NC_000017.11:27765662:T:C,NC_000017.11:27765662:T:G
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0038/7 (Korea1K)
HGVS:: NC_000017.11:g.27765663T>C, NC_000017.11:g.27765663T>G, NC_000017.10:g.26092689T>C, NC_000017.10:g.26092689T>G, NG_011470.1:g.39867A>G, NG_011470.1:g.39867A>C, NM_000625.4:c.2300A>G, NM_000625.4:c.2300A>C, NM_153292.1:c.2183A>G, NM_153292.1:c.2183A>C, NP_000616.3:p.Tyr767Cys, NP_000616.3:p.Tyr767Ser

Select item 14874747595.

rs1487474759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:27782073 (GRCh38)
17:26109099 (GRCh37)
Canonical SPDI:: NC_000017.11:27782072:C:T
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.27782073C>T, NC_000017.10:g.26109099C>T, NG_011470.1:g.23457G>A, NM_000625.4:c.664G>A, NM_153292.1:c.664G>A, NP_000616.3:p.Glu222Lys

Select item 14873315166.

rs1487331516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:27778741 (GRCh38)
17:26105767 (GRCh37)
Canonical SPDI:: NC_000017.11:27778740:C:T
Gene:: NOS2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.27778741C>T, NC_000017.10:g.26105767C>T, NG_011470.1:g.26789G>A, NM_000625.4:c.1230G>A, NM_153292.1:c.1113G>A, NP_000616.3:p.Trp410Ter

Select item 14871402947.

rs1487140294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:27781148 (GRCh38)
17:26108174 (GRCh37)
Canonical SPDI:: NC_000017.11:27781147:C:G
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.27781148C>G, NC_000017.10:g.26108174C>G, NG_011470.1:g.24382G>C, NM_000625.4:c.752G>C, NM_153292.1:c.752G>C, NP_000616.3:p.Ser251Thr

Select item 14852709068.

rs1485270906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27774336 (GRCh38)
17:26101362 (GRCh37)
Canonical SPDI:: NC_000017.11:27774335:G:A
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.27774336G>A, NC_000017.10:g.26101362G>A, NG_011470.1:g.31194C>T, NM_000625.4:c.1397C>T, NM_153292.1:c.1280C>T, NP_000616.3:p.Pro466Leu

Select item 14849329939.

rs1484932993 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:27798816 (GRCh38)
17:26125842 (GRCh37)
Canonical SPDI:: NC_000017.11:27798815:GG:G
Gene:: NOS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.27798817del, NC_000017.10:g.26125843del, NG_011470.1:g.6714del, NM_000625.4:c.-7del, NM_153292.1:c.-7del

Select item 148444621810.

rs1484446218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27765622 (GRCh38)
17:26092648 (GRCh37)
Canonical SPDI:: NC_000017.11:27765621:G:A
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.27765622G>A, NC_000017.10:g.26092648G>A, NG_011470.1:g.39908C>T, NM_000625.4:c.2341C>T, NM_153292.1:c.2224C>T, NP_000616.3:p.Pro781Ser

Select item 148278939711.

rs1482789397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:27765600 (GRCh38)
17:26092626 (GRCh37)
Canonical SPDI:: NC_000017.11:27765599:A:T
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.27765600A>T, NC_000017.10:g.26092626A>T, NG_011470.1:g.39930T>A, NM_000625.4:c.2363T>A, NM_153292.1:c.2246T>A, NP_000616.3:p.Leu788Gln

Select item 148217009112.

rs1482170091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27765547 (GRCh38)
17:26092573 (GRCh37)
Canonical SPDI:: NC_000017.11:27765546:G:A
Gene:: NOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.27765547G>A, NC_000017.10:g.26092573G>A, NG_011470.1:g.39983C>T, NM_000625.4:c.2416C>T, NM_153292.1:c.2299C>T

Select item 148166845813.

rs1481668458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:27798810 (GRCh38)
17:26125836 (GRCh37)
Canonical SPDI:: NC_000017.11:27798809:C:A,NC_000017.11:27798809:C:T
Gene:: NOS2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.27798810C>A, NC_000017.11:g.27798810C>T, NC_000017.10:g.26125836C>A, NC_000017.10:g.26125836C>T, NG_011470.1:g.6720G>T, NG_011470.1:g.6720G>A, NM_000625.4:c.-1G>T, NM_000625.4:c.-1G>A, NM_153292.1:c.-1G>T, NM_153292.1:c.-1G>A

Select item 148142990414.

rs1481429904 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:27757227 (GRCh38)
17:26084254 (GRCh37)
Canonical SPDI:: NC_000017.11:27757227:AA:AAA
Gene:: NOS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.27757229dup, NC_000017.10:g.26084255dup, NG_011470.1:g.48302dup, NM_000625.4:c.*18dup, NM_153292.1:c.*18dup

Select item 148094686515.

rs1480946865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:27773237 (GRCh38)
17:26100263 (GRCh37)
Canonical SPDI:: NC_000017.11:27773236:C:T
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.27773237C>T, NC_000017.10:g.26100263C>T, NG_011470.1:g.32293G>A, NM_000625.4:c.1483G>A, NM_153292.1:c.1366G>A, NP_000616.3:p.Ala495Thr

Select item 148055354216.

rs1480553542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:27769046 (GRCh38)
17:26096072 (GRCh37)
Canonical SPDI:: NC_000017.11:27769045:C:T
Gene:: NOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.27769046C>T, NC_000017.10:g.26096072C>T, NG_011470.1:g.36484G>A, NM_000625.4:c.1965G>A, NM_153292.1:c.1848G>A

Select item 148040219117.

rs1480402191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27783083 (GRCh38)
17:26110109 (GRCh37)
Canonical SPDI:: NC_000017.11:27783082:G:A
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.27783083G>A, NC_000017.10:g.26110109G>A, NG_011470.1:g.22447C>T, NM_000625.4:c.491C>T, NM_153292.1:c.491C>T, NP_000616.3:p.Ala164Val

Select item 147904915518.

rs1479049155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:27760171 (GRCh38)
17:26087197 (GRCh37)
Canonical SPDI:: NC_000017.11:27760170:C:G
Gene:: NOS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.27760171C>G, NC_000017.10:g.26087197C>G, NG_011470.1:g.45359G>C, NM_000625.4:c.3018G>C, NM_153292.1:c.2901G>C

Select item 147622203619.

rs1476222036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:27778914 (GRCh38)
17:26105940 (GRCh37)
Canonical SPDI:: NC_000017.11:27778913:A:T
Gene:: NOS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.27778914A>T, NC_000017.10:g.26105940A>T, NG_011470.1:g.26616T>A, NM_000625.4:c.1147T>A, NM_153292.1:c.1030T>A, NP_000616.3:p.Phe383Ile

Select item 147594986120.

rs1475949861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:27756997 (GRCh38)
17:26084023 (GRCh37)
Canonical SPDI:: NC_000017.11:27756996:C:A
Gene:: NOS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.27756997C>A, NC_000017.10:g.26084023C>A, NG_011470.1:g.48533G>T, NM_000625.4:c.*249G>T, NM_153292.1:c.*249G>T

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