SNP Links for Nucleotide (Select 358438234) - SNP

Links from Nucleotide

Items: 1 to 20 of 6749

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Select item 14914873821.

rs1491487382 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:43321033 (GRCh38)
1:43786705 (GRCh37)
Canonical SPDI:: NC_000001.11:43321033::G
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.43321033_43321034insG, NC_000001.10:g.43786704_43786705insG, NG_030673.1:g.25139_25140insG, NG_082044.1:g.191_192insG

Select item 14914030512.

rs1491403051 has merged into rs752698629 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:43321044 (GRCh38)
1:43786715 (GRCh37)
Canonical SPDI:: NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:43321032:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TIE1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000001.11:g.43321044_43321054del, NC_000001.11:g.43321048_43321054del, NC_000001.11:g.43321049_43321054del, NC_000001.11:g.43321050_43321054del, NC_000001.11:g.43321051_43321054del, NC_000001.11:g.43321052_43321054del, NC_000001.11:g.43321053_43321054del, NC_000001.11:g.43321054del, NC_000001.11:g.43321054dup, NC_000001.11:g.43321053_43321054dup, NC_000001.11:g.43321052_43321054dup, NC_000001.11:g.43321051_43321054dup, NC_000001.11:g.43321050_43321054dup, NC_000001.11:g.43321049_43321054dup, NC_000001.11:g.43321048_43321054dup, NC_000001.11:g.43321047_43321054dup, NC_000001.11:g.43321046_43321054dup, NC_000001.11:g.43321045_43321054dup, NC_000001.11:g.43321044_43321054dup, NC_000001.11:g.43321043_43321054dup, NC_000001.11:g.43321041_43321054dup, NC_000001.11:g.43321040_43321054dup, NC_000001.11:g.43321039_43321054dup, NC_000001.11:g.43321035_43321054dup, NC_000001.10:g.43786715_43786725del, NC_000001.10:g.43786719_43786725del, NC_000001.10:g.43786720_43786725del, NC_000001.10:g.43786721_43786725del, NC_000001.10:g.43786722_43786725del, NC_000001.10:g.43786723_43786725del, NC_000001.10:g.43786724_43786725del, NC_000001.10:g.43786725del, NC_000001.10:g.43786725dup, NC_000001.10:g.43786724_43786725dup, NC_000001.10:g.43786723_43786725dup, NC_000001.10:g.43786722_43786725dup, NC_000001.10:g.43786721_43786725dup, NC_000001.10:g.43786720_43786725dup, NC_000001.10:g.43786719_43786725dup, NC_000001.10:g.43786718_43786725dup, NC_000001.10:g.43786717_43786725dup, NC_000001.10:g.43786716_43786725dup, NC_000001.10:g.43786715_43786725dup, NC_000001.10:g.43786714_43786725dup, NC_000001.10:g.43786712_43786725dup, NC_000001.10:g.43786711_43786725dup, NC_000001.10:g.43786710_43786725dup, NC_000001.10:g.43786706_43786725dup, NG_030673.1:g.25150_25160del, NG_030673.1:g.25154_25160del, NG_030673.1:g.25155_25160del, NG_030673.1:g.25156_25160del, NG_030673.1:g.25157_25160del, NG_030673.1:g.25158_25160del, NG_030673.1:g.25159_25160del, NG_030673.1:g.25160del, NG_030673.1:g.25160dup, NG_030673.1:g.25159_25160dup, NG_030673.1:g.25158_25160dup, NG_030673.1:g.25157_25160dup, NG_030673.1:g.25156_25160dup, NG_030673.1:g.25155_25160dup, NG_030673.1:g.25154_25160dup, NG_030673.1:g.25153_25160dup, NG_030673.1:g.25152_25160dup, NG_030673.1:g.25151_25160dup, NG_030673.1:g.25150_25160dup, NG_030673.1:g.25149_25160dup, NG_030673.1:g.25147_25160dup, NG_030673.1:g.25146_25160dup, NG_030673.1:g.25145_25160dup, NG_030673.1:g.25141_25160dup, NG_082044.1:g.202_212del, NG_082044.1:g.206_212del, NG_082044.1:g.207_212del, NG_082044.1:g.208_212del, NG_082044.1:g.209_212del, NG_082044.1:g.210_212del, NG_082044.1:g.211_212del, NG_082044.1:g.212del, NG_082044.1:g.212dup, NG_082044.1:g.211_212dup, NG_082044.1:g.210_212dup, NG_082044.1:g.209_212dup, NG_082044.1:g.208_212dup, NG_082044.1:g.207_212dup, NG_082044.1:g.206_212dup, NG_082044.1:g.205_212dup, NG_082044.1:g.204_212dup, NG_082044.1:g.203_212dup, NG_082044.1:g.202_212dup, NG_082044.1:g.201_212dup, NG_082044.1:g.199_212dup, NG_082044.1:g.198_212dup, NG_082044.1:g.197_212dup, NG_082044.1:g.193_212dup

Select item 14909702673.

rs1490970267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:43298470 (GRCh38)
1:43764141 (GRCh37)
Canonical SPDI:: NC_000001.11:43298469:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.43298470G>C, NC_000001.10:g.43764141G>C, NG_030673.1:g.2576G>C

Select item 14909361514.

rs1490936151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43313360 (GRCh38)
1:43779031 (GRCh37)
Canonical SPDI:: NC_000001.11:43313359:T:C
Gene:: TIE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000001.11:g.43313360T>C, NC_000001.10:g.43779031T>C, NG_030673.1:g.17466T>C, NM_005424.5:c.2153T>C, NM_005424.4:c.2153T>C, NM_001253357.2:c.2018T>C, NM_001253357.1:c.2018T>C, XM_005271163.3:c.2024T>C, XM_005271163.2:c.2024T>C, XM_005271163.1:c.2024T>C, XM_017002207.3:c.2153T>C, XM_017002207.2:c.2153T>C, XM_017002207.1:c.2153T>C, XM_047429354.1:c.2024T>C, XM_047429343.1:c.2153T>C, NP_005415.1:p.Met718Thr, NP_001240286.1:p.Met673Thr, XP_005271220.1:p.Met675Thr, XP_016857696.1:p.Met718Thr, XP_047285310.1:p.Met675Thr, XP_047285299.1:p.Met718Thr

Select item 14907774915.

rs1490777491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43312434 (GRCh38)
1:43778105 (GRCh37)
Canonical SPDI:: NC_000001.11:43312433:G:A
Gene:: TIE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43312434G>A, NC_000001.10:g.43778105G>A, NG_030673.1:g.16540G>A, NM_005424.5:c.1760G>A, NM_005424.4:c.1760G>A, NM_001253357.2:c.1625G>A, NM_001253357.1:c.1625G>A, XM_005271163.3:c.1631G>A, XM_005271163.2:c.1631G>A, XM_005271163.1:c.1631G>A, XM_017002207.3:c.1760G>A, XM_017002207.2:c.1760G>A, XM_017002207.1:c.1760G>A, XM_047429354.1:c.1631G>A, XM_047429343.1:c.1760G>A, NP_005415.1:p.Gly587Glu, NP_001240286.1:p.Gly542Glu, XP_005271220.1:p.Gly544Glu, XP_016857696.1:p.Gly587Glu, XP_047285310.1:p.Gly544Glu, XP_047285299.1:p.Gly587Glu

Select item 14907655776.

rs1490765577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:43304595 (GRCh38)
1:43770266 (GRCh37)
Canonical SPDI:: NC_000001.11:43304594:T:C
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.43304595T>C, NC_000001.10:g.43770266T>C, NG_030673.1:g.8701T>C

Select item 14907524787.

rs1490752478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:43316386 (GRCh38)
1:43782057 (GRCh37)
Canonical SPDI:: NC_000001.11:43316385:T:C,NC_000001.11:43316385:T:G
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.43316386T>C, NC_000001.11:g.43316386T>G, NC_000001.10:g.43782057T>C, NC_000001.10:g.43782057T>G, NG_030673.1:g.20492T>C, NG_030673.1:g.20492T>G

Select item 14907498978.

rs1490749897 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:43303490 (GRCh38)
1:43769161 (GRCh37)
Canonical SPDI:: NC_000001.11:43303489:T:G
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.43303490T>G, NC_000001.10:g.43769161T>G, NG_030673.1:g.7596T>G

Select item 14907061419.

rs1490706141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43307104 (GRCh38)
1:43772775 (GRCh37)
Canonical SPDI:: NC_000001.11:43307103:G:T
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43307104G>T, NC_000001.10:g.43772775G>T, NG_030673.1:g.11210G>T

Select item 149053760910.

rs1490537609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:43320979 (GRCh38)
1:43786650 (GRCh37)
Canonical SPDI:: NC_000001.11:43320978:G:C
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.43320979G>C, NC_000001.10:g.43786650G>C, NG_030673.1:g.25085G>C, NG_082044.1:g.137G>C

Select item 149038869611.

rs1490388696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43312157 (GRCh38)
1:43777828 (GRCh37)
Canonical SPDI:: NC_000001.11:43312156:C:T
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.43312157C>T, NC_000001.10:g.43777828C>T, NG_030673.1:g.16263C>T

Select item 149031495812.

rs1490314958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:43310231 (GRCh38)
1:43775902 (GRCh37)
Canonical SPDI:: NC_000001.11:43310230:G:A,NC_000001.11:43310230:G:C
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
C=0.000343/1 (KOREAN)
HGVS:: NC_000001.11:g.43310231G>A, NC_000001.11:g.43310231G>C, NC_000001.10:g.43775902G>A, NC_000001.10:g.43775902G>C, NG_030673.1:g.14337G>A, NG_030673.1:g.14337G>C

Select item 148995478013.

rs1489954780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:43320085 (GRCh38)
1:43785756 (GRCh37)
Canonical SPDI:: NC_000001.11:43320084:C:A
Gene:: TIE1 (Varview)
Functional Consequence:: intron_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.43320085C>A, NC_000001.10:g.43785756C>A, NG_030673.1:g.24191C>A

Select item 148993386014.

rs1489933860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:43317757 (GRCh38)
1:43783428 (GRCh37)
Canonical SPDI:: NC_000001.11:43317756:G:A
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000318/5 (TOMMO)
HGVS:: NC_000001.11:g.43317757G>A, NC_000001.10:g.43783428G>A, NG_030673.1:g.21863G>A

Select item 148973053415.

rs1489730534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43308853 (GRCh38)
1:43774524 (GRCh37)
Canonical SPDI:: NC_000001.11:43308852:G:T
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43308853G>T, NC_000001.10:g.43774524G>T, NG_030673.1:g.12959G>T

Select item 148972225216.

rs1489722252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:43314145 (GRCh38)
1:43779816 (GRCh37)
Canonical SPDI:: NC_000001.11:43314144:C:T
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.43314145C>T, NC_000001.10:g.43779816C>T, NG_030673.1:g.18251C>T

Select item 148952655917.

rs1489526559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:43318073 (GRCh38)
1:43783744 (GRCh37)
Canonical SPDI:: NC_000001.11:43318072:G:T
Gene:: TIE1 (Varview)
Functional Consequence:: splice_donor_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43318073G>T, NC_000001.10:g.43783744G>T, NG_030673.1:g.22179G>T

Select item 148949048218.

rs1489490482 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTAGGTAGC [Show Flanks]
Chromosome:: 1:43323679 (GRCh38)
1:43789351 (GRCh37)
Canonical SPDI:: NC_000001.11:43323679:CTCTAGGTAGC:CTCTAGGTAGCTCTAGGTAGC
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTAGGTAGCTCTAGGTAGC=0.000066/1 (ALFA)
CTCTAGGTAG=0.000004/1 (TOPMED)
CTCTAGGTAG=0.000007/1 (GnomAD)
CTCTAGGTAG=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.43323681_43323690dup, NC_000001.10:g.43789352_43789361dup, NG_030673.1:g.27787_27796dup

Select item 148936545419.

rs1489365454 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:43321511 (GRCh38)
1:43787182 (GRCh37)
Canonical SPDI:: NC_000001.11:43321510:G:
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.43321511del, NC_000001.10:g.43787182del, NG_030673.1:g.25617del, NG_082044.1:g.669del

Select item 148926379020.

rs1489263790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:43309551 (GRCh38)
1:43775222 (GRCh37)
Canonical SPDI:: NC_000001.11:43309550:C:G
Gene:: TIE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.43309551C>G, NC_000001.10:g.43775222C>G, NG_030673.1:g.13657C>G

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