SNP Links for Nucleotide (Select 1025608668) - SNP

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Links from Nucleotide

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Select item 14914401291.

rs1491440129 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:61774534 (GRCh38)
11:61542006 (GRCh37)
Canonical SPDI:: NC_000011.10:61774532:AGA:A
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.01197/142 (ALFA)
HGVS:: NC_000011.10:g.61774534_61774535del, NC_000011.9:g.61542006_61542007del, NG_047038.1:g.26898_26899del

Select item 14911112632.

rs1491111263 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:61774533 (GRCh38)
11:61542006 (GRCh37)
Canonical SPDI:: NC_000011.10:61774533:G:GG
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00011/13 (GnomAD)
HGVS:: NC_000011.10:g.61774534dup, NC_000011.9:g.61542006dup, NG_047038.1:g.26898dup

Select item 14909751633.

rs1490975163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:61752099 (GRCh38)
11:61519571 (GRCh37)
Canonical SPDI:: NC_000011.10:61752098:G:T
Gene:: MYRF (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.61752099G>T, NC_000011.9:g.61519571G>T, NG_047038.1:g.4463G>T

Select item 14909672354.

rs1490967235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61784847 (GRCh38)
11:61552319 (GRCh37)
Canonical SPDI:: NC_000011.10:61784846:G:A
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000106/3 (TOMMO)
HGVS:: NC_000011.10:g.61784847G>A, NC_000011.9:g.61552319G>A, NG_047038.1:g.37211G>A

Select item 14909185945.

rs1490918594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61768400 (GRCh38)
11:61535872 (GRCh37)
Canonical SPDI:: NC_000011.10:61768399:G:A
Gene:: MYRF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.61768400G>A, NC_000011.9:g.61535872G>A, NG_047038.1:g.20764G>A

Select item 14908782446.

rs1490878244 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CGTGCTTGCTTGGGTTACTGTCTGGAGTGCCTTGAGCCTGCTA
Chromosome:: no mapping
Canonical SPDI:

Select item 14908392897.

rs1490839289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61781300 (GRCh38)
11:61548772 (GRCh37)
Canonical SPDI:: NC_000011.10:61781299:C:T
Gene:: MYRF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000036/5 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000011.10:g.61781300C>T, NC_000011.9:g.61548772C>T, NG_047038.1:g.33664C>T, NM_013279.4:c.2630C>T, NM_013279.3:c.2630C>T, NM_013279.2:c.2630C>T, NM_001127392.3:c.2735C>T, NM_001127392.2:c.2735C>T, NM_001127392.1:c.2735C>T, XM_011545234.3:c.2135C>T, XM_011545234.2:c.2135C>T, XM_011545234.1:c.2135C>T, XM_005274222.2:c.2738C>T, XM_005274222.1:c.2738C>T, XM_005274223.2:c.2738C>T, XM_005274223.1:c.2738C>T, XM_005274224.2:c.2735C>T, XM_005274224.1:c.2735C>T, XM_005274225.2:c.2657C>T, XM_005274225.1:c.2657C>T, XM_005274226.2:c.2654C>T, XM_005274226.1:c.2654C>T, XM_005274227.2:c.2657C>T, XM_005274227.1:c.2657C>T, XM_005274228.2:c.2585C>T, XM_005274228.1:c.2585C>T, XM_024448677.2:c.2297C>T, XM_024448677.1:c.2297C>T, XM_047427530.1:c.2540C>T, XM_047427535.1:c.2462C>T, XM_047427526.1:c.2654C>T, XM_047427527.1:c.2582C>T, XM_047427528.1:c.2585C>T, XM_047427529.1:c.2582C>T, XM_047427531.1:c.2504C>T, XM_047427532.1:c.2501C>T, XM_047427533.1:c.2504C>T, XM_047427536.1:c.2294C>T, XM_047427534.1:c.2501C>T, XM_047427537.1:c.2216C>T, XM_047427538.1:c.2213C>T, NP_037411.1:p.Pro877Leu, NP_001120864.1:p.Pro912Leu, XP_011543536.1:p.Pro712Leu, XP_005274279.1:p.Pro913Leu, XP_005274280.1:p.Pro913Leu, XP_005274281.1:p.Pro912Leu, XP_005274282.1:p.Pro886Leu, XP_005274283.1:p.Pro885Leu, XP_005274284.1:p.Pro886Leu, XP_005274285.1:p.Pro862Leu, XP_024304445.1:p.Pro766Leu, XP_047283486.1:p.Pro847Leu, XP_047283491.1:p.Pro821Leu, XP_047283482.1:p.Pro885Leu, XP_047283483.1:p.Pro861Leu, XP_047283484.1:p.Pro862Leu, XP_047283485.1:p.Pro861Leu, XP_047283487.1:p.Pro835Leu, XP_047283488.1:p.Pro834Leu, XP_047283489.1:p.Pro835Leu, XP_047283492.1:p.Pro765Leu, XP_047283490.1:p.Pro834Leu, XP_047283493.1:p.Pro739Leu, XP_047283494.1:p.Pro738Leu

Select item 14908336648.

rs1490833664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61753823 (GRCh38)
11:61521295 (GRCh37)
Canonical SPDI:: NC_000011.10:61753822:C:T
Gene:: MYRF (Varview), MYRF-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61753823C>T, NC_000011.9:g.61521295C>T, NG_047038.1:g.6187C>T

Select item 14908220369.

rs1490822036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:61775031 (GRCh38)
11:61542503 (GRCh37)
Canonical SPDI:: NC_000011.10:61775030:A:T
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.61775031A>T, NC_000011.9:g.61542503A>T, NG_047038.1:g.27395A>T

Select item 149080463610.

rs1490804636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:61761637 (GRCh38)
11:61529109 (GRCh37)
Canonical SPDI:: NC_000011.10:61761636:C:A
Gene:: MYRF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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.61761637C>A, NC_000011.9:g.61529109C>A, NG_047038.1:g.14001C>A

Select item 149077494211.

rs1490774942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61761129 (GRCh38)
11:61528601 (GRCh37)
Canonical SPDI:: NC_000011.10:61761128:A:G
Gene:: MYRF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61761129A>G, NC_000011.9:g.61528601A>G, NG_047038.1:g.13493A>G

Select item 149072037812.

rs1490720378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61781334 (GRCh38)
11:61548806 (GRCh37)
Canonical SPDI:: NC_000011.10:61781333:G:A
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61781334G>A, NC_000011.9:g.61548806G>A, NG_047038.1:g.33698G>A

Select item 149061880013.

rs1490618800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61781009 (GRCh38)
11:61548481 (GRCh37)
Canonical SPDI:: NC_000011.10:61781008:A:G
Gene:: MYRF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61781009A>G, NC_000011.9:g.61548481A>G, NG_047038.1:g.33373A>G, NM_013279.4:c.2431A>G, NM_013279.3:c.2431A>G, NM_013279.2:c.2431A>G, NM_001127392.3:c.2536A>G, NM_001127392.2:c.2536A>G, NM_001127392.1:c.2536A>G, XM_011545234.3:c.1936A>G, XM_011545234.2:c.1936A>G, XM_011545234.1:c.1936A>G, XM_005274222.2:c.2539A>G, XM_005274222.1:c.2539A>G, XM_005274223.2:c.2539A>G, XM_005274223.1:c.2539A>G, XM_005274224.2:c.2536A>G, XM_005274224.1:c.2536A>G, XM_005274225.2:c.2458A>G, XM_005274225.1:c.2458A>G, XM_005274226.2:c.2455A>G, XM_005274226.1:c.2455A>G, XM_005274227.2:c.2458A>G, XM_005274227.1:c.2458A>G, XM_005274228.2:c.2386A>G, XM_005274228.1:c.2386A>G, XM_024448677.2:c.2098A>G, XM_024448677.1:c.2098A>G, XM_047427530.1:c.2341A>G, XM_047427535.1:c.2263A>G, XM_047427526.1:c.2455A>G, XM_047427527.1:c.2383A>G, XM_047427528.1:c.2386A>G, XM_047427529.1:c.2383A>G, XM_047427531.1:c.2305A>G, XM_047427532.1:c.2302A>G, XM_047427533.1:c.2305A>G, XM_047427536.1:c.2095A>G, XM_047427534.1:c.2302A>G, XM_047427537.1:c.2017A>G, XM_047427538.1:c.2014A>G, NP_037411.1:p.Thr811Ala, NP_001120864.1:p.Thr846Ala, XP_011543536.1:p.Thr646Ala, XP_005274279.1:p.Thr847Ala, XP_005274280.1:p.Thr847Ala, XP_005274281.1:p.Thr846Ala, XP_005274282.1:p.Thr820Ala, XP_005274283.1:p.Thr819Ala, XP_005274284.1:p.Thr820Ala, XP_005274285.1:p.Thr796Ala, XP_024304445.1:p.Thr700Ala, XP_047283486.1:p.Thr781Ala, XP_047283491.1:p.Thr755Ala, XP_047283482.1:p.Thr819Ala, XP_047283483.1:p.Thr795Ala, XP_047283484.1:p.Thr796Ala, XP_047283485.1:p.Thr795Ala, XP_047283487.1:p.Thr769Ala, XP_047283488.1:p.Thr768Ala, XP_047283489.1:p.Thr769Ala, XP_047283492.1:p.Thr699Ala, XP_047283490.1:p.Thr768Ala, XP_047283493.1:p.Thr673Ala, XP_047283494.1:p.Thr672Ala

Select item 149047680014.

rs1490476800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:61785346 (GRCh38)
11:61552818 (GRCh37)
Canonical SPDI:: NC_000011.10:61785345:G:A,NC_000011.10:61785345:G:C
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.61785346G>A, NC_000011.10:g.61785346G>C, NC_000011.9:g.61552818G>A, NC_000011.9:g.61552818G>C, NG_047038.1:g.37710G>A, NG_047038.1:g.37710G>C

Select item 149046181315.

rs1490461813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:61784183 (GRCh38)
11:61551655 (GRCh37)
Canonical SPDI:: NC_000011.10:61784182:G:T
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61784183G>T, NC_000011.9:g.61551655G>T, NG_047038.1:g.36547G>T

Select item 149042876416.

rs1490428764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61768955 (GRCh38)
11:61536427 (GRCh37)
Canonical SPDI:: NC_000011.10:61768954:C:T
Gene:: MYRF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.61768955C>T, NC_000011.9:g.61536427C>T, NG_047038.1:g.21319C>T

Select item 149013319417.

rs1490133194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:61748986 (GRCh38)
11:61516458 (GRCh37)
Canonical SPDI:: NC_000011.10:61748985:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61748986G>C, NC_000011.9:g.61516458G>C, NG_047038.1:g.1350G>C

Select item 149007189018.

rs1490071890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61779601 (GRCh38)
11:61547073 (GRCh37)
Canonical SPDI:: NC_000011.10:61779600:G:A
Gene:: MYRF (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.61779601G>A, NC_000011.9:g.61547073G>A, NG_047038.1:g.31965G>A

Select item 149000105119.

rs1490001051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61750018 (GRCh38)
11:61517490 (GRCh37)
Canonical SPDI:: NC_000011.10:61750017:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.61750018T>C, NC_000011.9:g.61517490T>C, NG_047038.1:g.2382T>C

Select item 148997047420.

rs1489970474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61747955 (GRCh38)
11:61515427 (GRCh37)
Canonical SPDI:: NC_000011.10:61747954:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.61747955C>T, NC_000011.9:g.61515427C>T, NG_047038.1:g.319C>T

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