SNP Links for Nucleotide (Select 336391117) - SNP

Links from Nucleotide

Items: 1 to 20 of 555

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Select item 14907509491.

rs1490750949 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:71406797 (GRCh38)
11:71117844 (GRCh37)
Canonical SPDI:: NC_000011.10:71406797::C
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000435/61 (GnomAD)
C=0.003333/2 (NorthernSweden)
HGVS:: NC_000011.10:g.71406797_71406798insC, NC_000011.9:g.71117843_71117844insC, NR_038862.1:n.1110_1111insG, NM_001001680.1:c.-48_-47insG

Select item 14889995262.

rs1488999526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71405996 (GRCh38)
11:71117042 (GRCh37)
Canonical SPDI:: NC_000011.10:71405995:G:A
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000011.10:g.71405996G>A, NC_000011.9:g.71117042G>A, NR_038862.1:n.1912C>T, NM_001001680.1:c.*257C>T

Select item 14873935743.

rs1487393574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:71406449 (GRCh38)
11:71117495 (GRCh37)
Canonical SPDI:: NC_000011.10:71406448:G:T
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.71406449G>T, NC_000011.9:g.71117495G>T, NR_038862.1:n.1459C>A, NM_001001680.1:c.302C>A

Select item 14872174314.

rs1487217431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71405886 (GRCh38)
11:71116932 (GRCh37)
Canonical SPDI:: NC_000011.10:71405885:C:T
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.71405886C>T, NC_000011.9:g.71116932C>T, NR_038862.1:n.2022G>A, NM_001001680.1:c.*367G>A

Select item 14867877355.

rs1486787735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:71421873 (GRCh38)
11:71132919 (GRCh37)
Canonical SPDI:: NC_000011.10:71421872:T:C
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.71421873T>C, NC_000011.9:g.71132919T>C, NR_038862.1:n.53A>G, XM_047427987.1:c.-320A>G, NM_001001680.1:c.-1105A>G

Select item 14849935476.

rs1484993547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71406266 (GRCh38)
11:71117312 (GRCh37)
Canonical SPDI:: NC_000011.10:71406265:G:A
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.71406266G>A, NC_000011.9:g.71117312G>A, NR_038862.1:n.1642C>T, NM_001001680.1:c.485C>T

Select item 14844326267.

rs1484432626 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 11:71406550 (GRCh38)
11:71117596 (GRCh37)
Canonical SPDI:: NC_000011.10:71406547:ACAC:AC
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.71406548AC[1], NC_000011.9:g.71117594AC[1], NR_038862.1:n.1357GT[1], NM_001001680.1:c.202_203del

Select item 14808561768.

rs1480856176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71407515 (GRCh38)
11:71118561 (GRCh37)
Canonical SPDI:: NC_000011.10:71407514:G:A
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.71407515G>A, NC_000011.9:g.71118561G>A, NR_038862.1:n.393C>T, NM_001001680.1:c.-765C>T

Select item 14805030569.

rs1480503056 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:71406609 (GRCh38)
11:71117655 (GRCh37)
Canonical SPDI:: NC_000011.10:71406608:C:A,NC_000011.10:71406608:C:T
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.71406609C>A, NC_000011.10:g.71406609C>T, NC_000011.9:g.71117655C>A, NC_000011.9:g.71117655C>T, NR_038862.1:n.1299G>T, NR_038862.1:n.1299G>A, NM_001001680.1:c.142G>T, NM_001001680.1:c.142G>A

Select item 148005499010.

rs1480054990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71407530 (GRCh38)
11:71118576 (GRCh37)
Canonical SPDI:: NC_000011.10:71407529:C:T
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,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_000011.10:g.71407530C>T, NC_000011.9:g.71118576C>T, NR_038862.1:n.378G>A, NM_001001680.1:c.-780G>A

Select item 147919154911.

rs1479191549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:71407698 (GRCh38)
11:71118744 (GRCh37)
Canonical SPDI:: NC_000011.10:71407697:T:C
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.71407698T>C, NC_000011.9:g.71118744T>C, NR_038862.1:n.210A>G, XM_047427987.1:c.-163A>G, NM_001001680.1:c.-948A>G

Select item 147892886112.

rs1478928861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71406381 (GRCh38)
11:71117427 (GRCh37)
Canonical SPDI:: NC_000011.10:71406380:C:T
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.71406381C>T, NC_000011.9:g.71117427C>T, NR_038862.1:n.1527G>A, NM_001001680.1:c.370G>A

Select item 147854142813.

rs1478541428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71406936 (GRCh38)
11:71117982 (GRCh37)
Canonical SPDI:: NC_000011.10:71406935:G:A
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000011.10:g.71406936G>A, NC_000011.9:g.71117982G>A, NR_038862.1:n.972C>T, NM_001001680.1:c.-186C>T

Select item 147689949714.

rs1476899497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:71406531 (GRCh38)
11:71117577 (GRCh37)
Canonical SPDI:: NC_000011.10:71406530:A:T
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.71406531A>T, NC_000011.9:g.71117577A>T, NR_038862.1:n.1377T>A, NM_001001680.1:c.220T>A

Select item 147546572515.

rs1475465725 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 11:71406802 (GRCh38)
11:71117849 (GRCh37)
Canonical SPDI:: NC_000011.10:71406802::CC
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: CC=0.000435/61 (GnomAD)
CC=0.003333/2 (NorthernSweden)
HGVS:: NC_000011.10:g.71406802_71406803insCC, NC_000011.9:g.71117848_71117849insCC, NR_038862.1:n.1105_1106insGG, NM_001001680.1:c.-53_-52insGG

Select item 147462866616.

rs1474628666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71407394 (GRCh38)
11:71118440 (GRCh37)
Canonical SPDI:: NC_000011.10:71407393:G:A
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.71407394G>A, NC_000011.9:g.71118440G>A, NR_038862.1:n.514C>T, NM_001001680.1:c.-644C>T

Select item 147131954217.

rs1471319542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:71407277 (GRCh38)
11:71118323 (GRCh37)
Canonical SPDI:: NC_000011.10:71407276:A:G
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000011.10:g.71407277A>G, NC_000011.9:g.71118323A>G, NR_038862.1:n.631T>C, NM_001001680.1:c.-527T>C

Select item 146936472318.

rs1469364723 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:71405786 (GRCh38)
11:71116832 (GRCh37)
Canonical SPDI:: NC_000011.10:71405785:G:
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000011.10:g.71405786del, NC_000011.9:g.71116832del, NR_038862.1:n.2122del, NM_001001680.1:c.*467del

Select item 146672225319.

rs1466722253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:71407068 (GRCh38)
11:71118114 (GRCh37)
Canonical SPDI:: NC_000011.10:71407067:C:T
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.71407068C>T, NC_000011.9:g.71118114C>T, NR_038862.1:n.840G>A, NM_001001680.1:c.-318G>A

Select item 146509473120.

rs1465094731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:71405782 (GRCh38)
11:71116828 (GRCh37)
Canonical SPDI:: NC_000011.10:71405781:G:A
Gene:: ACTE1P (Varview), LOC124902707 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000011.10:g.71405782G>A, NC_000011.9:g.71116828G>A, NR_038862.1:n.2126C>T, NM_001001680.1:c.*471C>T

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