SNP Links for Nucleotide (Select 281306721) - SNP

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Select item 14913388751.

rs1491338875 has merged into rs5795433 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC [Show Flanks]
Chromosome:: 11:124862229 (GRCh38)
11:124732125 (GRCh37)
Canonical SPDI:: NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACAC,NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACACAC,NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACACACAC,NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACACACACAC,NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000011.10:124862216:ACACACACACACACACACAC:ACACACACACACACACACACACACACAC
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
AC=0.15/90 (NorthernSweden)
AC=0.2/8 (GENOME_DK)
HGVS:: NC_000011.10:g.124862217AC[6], NC_000011.10:g.124862217AC[7], NC_000011.10:g.124862217AC[8], NC_000011.10:g.124862217AC[9], NC_000011.10:g.124862217AC[11], NC_000011.10:g.124862217AC[12], NC_000011.10:g.124862217AC[13], NC_000011.10:g.124862217AC[14], NC_000011.9:g.124732113AC[6], NC_000011.9:g.124732113AC[7], NC_000011.9:g.124732113AC[8], NC_000011.9:g.124732113AC[9], NC_000011.9:g.124732113AC[11], NC_000011.9:g.124732113AC[12], NC_000011.9:g.124732113AC[13], NC_000011.9:g.124732113AC[14], NG_016214.1:g.1809AC[6], NG_016214.1:g.1809AC[7], NG_016214.1:g.1809AC[8], NG_016214.1:g.1809AC[9], NG_016214.1:g.1809AC[11], NG_016214.1:g.1809AC[12], NG_016214.1:g.1809AC[13], NG_016214.1:g.1809AC[14]

Select item 14911416162.

rs1491141616 has merged into rs1293155724 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAATAATAAA,AAAAAAATAATAAA,AAAATAATAAA [Show Flanks]
Chromosome:: 11:124881758 (GRCh38)
11:124751654 (GRCh37)
Canonical SPDI:: NC_000011.10:124881756:AAA:A,NC_000011.10:124881756:AAA:AAAA,NC_000011.10:124881756:AAA:AAAAAAAAAA,NC_000011.10:124881756:AAA:AAAAAAAAAAAA,NC_000011.10:124881756:AAA:AAAAAAAAAAAAAA,NC_000011.10:124881756:AAA:AAAAAAAAAAAAAAAA,NC_000011.10:124881756:AAA:AAAAAAAAATAATAAA,NC_000011.10:124881756:AAA:AAAAAAAATAATAAA,NC_000011.10:124881756:AAA:AAAAATAATAAA
Gene:: ROBO3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.00014/2 (TOMMO)
HGVS:: NC_000011.10:g.124881758_124881759del, NC_000011.10:g.124881759dup, NC_000011.10:g.124881759_124881760insAAAAAAA, NC_000011.10:g.124881759_124881760insAAAAAAAAA, NC_000011.10:g.124881759_124881760insAAAAAAAAAAA, NC_000011.10:g.124881759_124881760insAAAAAAAAAAAAA, NC_000011.10:g.124881757_124881759A[9]TAA[2]A[1], NC_000011.10:g.124881757_124881759A[8]TAA[2]A[1], NC_000011.10:g.124881757_124881759A[5]TAA[2]A[1], NC_000011.9:g.124751654_124751655del, NC_000011.9:g.124751655dup, NC_000011.9:g.124751655_124751656insAAAAAAA, NC_000011.9:g.124751655_124751656insAAAAAAAAA, NC_000011.9:g.124751655_124751656insAAAAAAAAAAA, NC_000011.9:g.124751655_124751656insAAAAAAAAAAAAA, NC_000011.9:g.124751653_124751655A[9]TAA[2]A[1], NC_000011.9:g.124751653_124751655A[8]TAA[2]A[1], NC_000011.9:g.124751653_124751655A[5]TAA[2]A[1], NG_016214.1:g.21350_21351del, NG_016214.1:g.21351dup, NG_016214.1:g.21351_21352insAAAAAAA, NG_016214.1:g.21351_21352insAAAAAAAAA, NG_016214.1:g.21351_21352insAAAAAAAAAAA, NG_016214.1:g.21351_21352insAAAAAAAAAAAAA, NG_016214.1:g.21349_21351A[9]TAA[2]A[1], NG_016214.1:g.21349_21351A[8]TAA[2]A[1], NG_016214.1:g.21349_21351A[5]TAA[2]A[1]

Select item 14909028223.

rs1490902822 [Homo sapiens]

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

Select item 14907239924.

rs1490723992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:124863240 (GRCh38)
11:124733136 (GRCh37)
Canonical SPDI:: NC_000011.10:124863239:C:A,NC_000011.10:124863239:C:T
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.124863240C>A, NC_000011.10:g.124863240C>T, NC_000011.9:g.124733136C>A, NC_000011.9:g.124733136C>T, NG_016214.1:g.2832C>A, NG_016214.1:g.2832C>T

Select item 14906880415.

rs1490688041 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:124877261 (GRCh38)
11:124747157 (GRCh37)
Canonical SPDI:: NC_000011.10:124877260:CCCC:CCC
Gene:: ROBO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124877264del, NC_000011.9:g.124747160del, NG_016214.1:g.16856del

Select item 14905616316.

rs1490561631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124862892 (GRCh38)
11:124732788 (GRCh37)
Canonical SPDI:: NC_000011.10:124862891:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.124862892C>T, NC_000011.9:g.124732788C>T, NG_016214.1:g.2484C>T

Select item 14905088337.

rs1490508833 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTT>- [Show Flanks]
Chromosome:: 11:124877925 (GRCh38)
11:124747821 (GRCh37)
Canonical SPDI:: NC_000011.10:124877920:TCTTTCTT:TCTT
Gene:: ROBO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTCTT=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.124877921TCTT[1], NC_000011.9:g.124747817TCTT[1], NG_016214.1:g.17513TCTT[1]

Select item 14904165988.

rs1490416598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124867047 (GRCh38)
11:124736943 (GRCh37)
Canonical SPDI:: NC_000011.10:124867046:T:C
Gene:: ROBO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
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.124867047T>C, NC_000011.9:g.124736943T>C, NG_016214.1:g.6639T>C

Select item 14902178649.

rs1490217864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:124863518 (GRCh38)
11:124733414 (GRCh37)
Canonical SPDI:: NC_000011.10:124863517:T:A
Gene:: ROBO3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.124863518T>A, NC_000011.9:g.124733414T>A, NG_016214.1:g.3110T>A

Select item 149018691910.

rs1490186919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:124873106 (GRCh38)
11:124743002 (GRCh37)
Canonical SPDI:: NC_000011.10:124873105:G:A,NC_000011.10:124873105:G:C
Gene:: ROBO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124873106G>A, NC_000011.10:g.124873106G>C, NC_000011.9:g.124743002G>A, NC_000011.9:g.124743002G>C, NG_016214.1:g.12698G>A, NG_016214.1:g.12698G>C

Select item 149017945511.

rs1490179455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124878953 (GRCh38)
11:124748849 (GRCh37)
Canonical SPDI:: NC_000011.10:124878952:G:A
Gene:: ROBO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124878953G>A, NC_000011.9:g.124748849G>A, NG_016214.1:g.18545G>A

Select item 149015107312.

rs1490151073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124880517 (GRCh38)
11:124750413 (GRCh37)
Canonical SPDI:: NC_000011.10:124880516:G:A
Gene:: ROBO3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.124880517G>A, NC_000011.9:g.124750413G>A, NG_016214.1:g.20109G>A, NM_022370.4:c.4058G>A, NM_022370.3:c.4058G>A, NM_001370356.1:c.1205G>A, NR_163412.1:n.1492G>A, NR_163411.1:n.1449G>A, NM_001370357.1:c.1205G>A, NM_001370359.1:c.1205G>A, NM_001370358.1:c.1205G>A, NM_001370361.1:c.1205G>A, NR_163410.1:n.1297G>A, NR_163414.1:n.1273G>A, NR_163409.1:n.1206G>A, NM_001370364.1:c.1010G>A, NM_001370366.1:c.1010G>A, NR_163413.1:n.1022G>A, NR_163415.1:n.827G>A, NP_071765.2:p.Ser1353Asn, NP_001357285.1:p.Ser402Asn, NP_001357286.1:p.Ser402Asn, NP_001357288.1:p.Ser402Asn, NP_001357287.1:p.Ser402Asn, NP_001357290.1:p.Ser402Asn, NP_001357293.1:p.Ser337Asn, NP_001357295.1:p.Ser337Asn

Select item 148983470713.

rs1489834707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:124869526 (GRCh38)
11:124739422 (GRCh37)
Canonical SPDI:: NC_000011.10:124869525:G:T
Gene:: ROBO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.124869526G>T, NC_000011.9:g.124739422G>T, NG_016214.1:g.9118G>T, NM_022370.4:c.564G>T, NM_022370.3:c.564G>T

Select item 148977043714.

rs1489770437 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:124874947 (GRCh38)
11:124744843 (GRCh37)
Canonical SPDI:: NC_000011.10:124874946:G:
Gene:: ROBO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124874947del, NC_000011.9:g.124744843del, NG_016214.1:g.14539del

Select item 148966554915.

rs1489665549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124879218 (GRCh38)
11:124749114 (GRCh37)
Canonical SPDI:: NC_000011.10:124879217:C:T
Gene:: ROBO3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124879218C>T, NC_000011.9:g.124749114C>T, NG_016214.1:g.18810C>T, NM_022370.4:c.3562C>T, NM_022370.3:c.3562C>T, NM_001370356.1:c.709C>T, NR_163412.1:n.996C>T, NR_163411.1:n.953C>T, NM_001370357.1:c.709C>T, NM_001370359.1:c.709C>T, NM_001370358.1:c.709C>T, NM_001370361.1:c.709C>T, NR_163410.1:n.801C>T, NR_163414.1:n.777C>T, NR_163409.1:n.710C>T, NM_001370364.1:c.514C>T, NM_001370366.1:c.514C>T, NR_163413.1:n.526C>T, NR_163415.1:n.331C>T, NP_071765.2:p.Leu1188Phe, NP_001357285.1:p.Leu237Phe, NP_001357286.1:p.Leu237Phe, NP_001357288.1:p.Leu237Phe, NP_001357287.1:p.Leu237Phe, NP_001357290.1:p.Leu237Phe, NP_001357293.1:p.Leu172Phe, NP_001357295.1:p.Leu172Phe

Select item 148958103916.

rs1489581039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:124879406 (GRCh38)
11:124749302 (GRCh37)
Canonical SPDI:: NC_000011.10:124879405:A:G
Gene:: ROBO3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.124879406A>G, NC_000011.9:g.124749302A>G, NG_016214.1:g.18998A>G

Select item 148956621717.

rs1489566217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:124869043 (GRCh38)
11:124738939 (GRCh37)
Canonical SPDI:: NC_000011.10:124869042:G:C
Gene:: ROBO3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000112/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124869043G>C, NC_000011.9:g.124738939G>C, NG_016214.1:g.8635G>C, NM_022370.4:c.402G>C, NM_022370.3:c.402G>C

Select item 148910988218.

rs1489109882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:124862984 (GRCh38)
11:124732880 (GRCh37)
Canonical SPDI:: NC_000011.10:124862983:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124862984A>T, NC_000011.9:g.124732880A>T, NG_016214.1:g.2576A>T

Select item 148887895019.

rs1488878950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124879232 (GRCh38)
11:124749128 (GRCh37)
Canonical SPDI:: NC_000011.10:124879231:G:A
Gene:: ROBO3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.124879232G>A, NC_000011.9:g.124749128G>A, NG_016214.1:g.18824G>A, NM_022370.4:c.3576G>A, NM_022370.3:c.3576G>A, NM_001370356.1:c.723G>A, NR_163412.1:n.1010G>A, NR_163411.1:n.967G>A, NM_001370357.1:c.723G>A, NM_001370359.1:c.723G>A, NM_001370358.1:c.723G>A, NM_001370361.1:c.723G>A, NR_163410.1:n.815G>A, NR_163414.1:n.791G>A, NR_163409.1:n.724G>A, NM_001370364.1:c.528G>A, NM_001370366.1:c.528G>A, NR_163413.1:n.540G>A, NR_163415.1:n.345G>A

Select item 148881877520.

rs1488818775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:124878334 (GRCh38)
11:124748230 (GRCh37)
Canonical SPDI:: NC_000011.10:124878333:C:A
Gene:: ROBO3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000011.10:g.124878334C>A, NC_000011.9:g.124748230C>A, NG_016214.1:g.17926C>A, NM_022370.4:c.3218C>A, NM_022370.3:c.3218C>A, NM_001370356.1:c.365C>A, NR_163412.1:n.652C>A, NR_163411.1:n.609C>A, NM_001370357.1:c.365C>A, NM_001370359.1:c.365C>A, NM_001370358.1:c.365C>A, NM_001370361.1:c.365C>A, NR_163410.1:n.457C>A, NR_163414.1:n.433C>A, NM_001370364.1:c.170C>A, NM_001370366.1:c.170C>A, NP_071765.2:p.Pro1073His, NP_001357285.1:p.Pro122His, NP_001357286.1:p.Pro122His, NP_001357288.1:p.Pro122His, NP_001357287.1:p.Pro122His, NP_001357290.1:p.Pro122His, NP_001357293.1:p.Pro57His, NP_001357295.1:p.Pro57His

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