SNP Links for Nucleotide (Select 586802885) - SNP

Links from Nucleotide

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Select item 14913995001.

rs1491399500 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTGTCCGCCTGCAGCCCCCGCCTTC [Show Flanks]
Chromosome:: 20:63361832 (GRCh38)
20:61993185 (GRCh37)
Canonical SPDI:: NC_000020.11:63361832:TCTCTGTCCGCCTGCAGCCCCCGCCTTC:TCTCTGTCCGCCTGCAGCCCCCGCCTTCTCTGTCCGCCTGCAGCCCCCGCCTTC
Gene:: CHRNA4 (Varview), LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTGTCCGCCTGCAGCCCCCGCCTTCTCTGTCCGCCTGCAGCCCCCGCCTTC=0./0 (ALFA)
TCTCTGTCCGCCTGCAGCCCCCGCCT=0.000011/3 (TOPMED)
TCTCTGTCCGCCTGCAGCCCCCGCCT=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.63361835_63361860dup, NC_000020.10:g.61993187_61993212dup, NG_011931.1:g.4486_4511dup, NR_110634.1:n.200_225dup

Select item 14913411212.

rs1491341121 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGGGCCTGGGGTCCCGGTCAATGT [Show Flanks]
Chromosome:: 20:63366797 (GRCh38)
20:61998150 (GRCh37)
Canonical SPDI:: NC_000020.11:63366797:GT:GTTGGGGCCTGGGGTCCCGGTCAATGT
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: GTTGGGGCCTGGGGTCCCGGTCAAT=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.63366799_63366800insTGGGGCCTGGGGTCCCGGTCAATGT, NC_000020.10:g.61998151_61998152insTGGGGCCTGGGGTCCCGGTCAATGT, NR_110634.1:n.686_687insTGGGGCCTGGGGTCCCGGTCAATGT

Select item 14913249503.

rs1491324950 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 20:63366797 (GRCh38)
20:61998149 (GRCh37)
Canonical SPDI:: NC_000020.11:63366796:GG:
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000020.11:g.63366797_63366798del, NC_000020.10:g.61998149_61998150del, NR_110634.1:n.684_685del

Select item 14911707814.

rs1491170781 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:63361836 (GRCh38)
20:61993188 (GRCh37)
Canonical SPDI:: NC_000020.11:63361831:CTCTCT:CTCT
Gene:: CHRNA4 (Varview), LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000214/3 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000087/23 (TOPMED)
HGVS:: NC_000020.11:g.63361832CT[2], NC_000020.10:g.61993184CT[2], NG_011931.1:g.4507AG[2], NR_110634.1:n.197CT[2]

Select item 14908300945.

rs1490830094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63367663 (GRCh38)
20:61999015 (GRCh37)
Canonical SPDI:: NC_000020.11:63367662:G:A
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63367663G>A, NC_000020.10:g.61999015G>A, NR_110634.1:n.1550G>A

Select item 14900740696.

rs1490074069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63361891 (GRCh38)
20:61993243 (GRCh37)
Canonical SPDI:: NC_000020.11:63361890:T:C
Gene:: CHRNA4 (Varview), LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.63361891T>C, NC_000020.10:g.61993243T>C, NG_011931.1:g.4453A>G, NR_110634.1:n.256T>C

Select item 14899624417.

rs1489962441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63366641 (GRCh38)
20:61997993 (GRCh37)
Canonical SPDI:: NC_000020.11:63366640:G:A
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000495/8 (TOMMO)
A=0.001092/2 (Korea1K)
A=0.002738/8 (KOREAN)
HGVS:: NC_000020.11:g.63366641G>A, NC_000020.10:g.61997993G>A, NR_110634.1:n.528G>A

Select item 14893522458.

rs1489352245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:63367585 (GRCh38)
20:61998937 (GRCh37)
Canonical SPDI:: NC_000020.11:63367584:G:C
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_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_000020.11:g.63367585G>C, NC_000020.10:g.61998937G>C, NR_110634.1:n.1472G>C

Select item 14890000149.

rs1489000014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:63366686 (GRCh38)
20:61998038 (GRCh37)
Canonical SPDI:: NC_000020.11:63366685:G:T
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000020.11:g.63366686G>T, NC_000020.10:g.61998038G>T, NR_110634.1:n.573G>T

Select item 148861390610.

rs1488613906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:63367570 (GRCh38)
20:61998922 (GRCh37)
Canonical SPDI:: NC_000020.11:63367569:G:C,NC_000020.11:63367569:G:T
Gene:: LOC100130587 (Varview)
Functional Consequence:: 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_000020.11:g.63367570G>C, NC_000020.11:g.63367570G>T, NC_000020.10:g.61998922G>C, NC_000020.10:g.61998922G>T, NR_110634.1:n.1457G>C, NR_110634.1:n.1457G>T

Select item 148652066411.

rs1486520664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:63364271 (GRCh38)
20:61995623 (GRCh37)
Canonical SPDI:: NC_000020.11:63364270:C:G
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.63364271C>G, NC_000020.10:g.61995623C>G, NG_011931.1:g.2073G>C, NR_110634.1:n.363C>G

Select item 148539952612.

rs1485399526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63367454 (GRCh38)
20:61998806 (GRCh37)
Canonical SPDI:: NC_000020.11:63367453:G:A
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000106/3 (TOMMO)
HGVS:: NC_000020.11:g.63367454G>A, NC_000020.10:g.61998806G>A, NR_110634.1:n.1341G>A

Select item 148529699113.

rs1485296991 [Homo sapiens]

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

Select item 148494253614.

rs1484942536 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63368088 (GRCh38)
20:61999440 (GRCh37)
Canonical SPDI:: NC_000020.11:63368087:A:G
Gene:: LOC100130587 (Varview)
Functional Consequence:: 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_000020.11:g.63368088A>G, NC_000020.10:g.61999440A>G, NR_110634.1:n.1975A>G

Select item 148426683815.

rs1484266838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63360052 (GRCh38)
20:61991404 (GRCh37)
Canonical SPDI:: NC_000020.11:63360051:G:A
Gene:: CHRNA4 (Varview), LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63360052G>A, NC_000020.10:g.61991404G>A, NG_011931.1:g.6292C>T, NR_110634.1:n.65G>A

Select item 148368233116.

rs1483682331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:63368706 (GRCh38)
20:62000058 (GRCh37)
Canonical SPDI:: NC_000020.11:63368705:G:A,NC_000020.11:63368705:G:T
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.63368706G>A, NC_000020.11:g.63368706G>T, NC_000020.10:g.62000058G>A, NC_000020.10:g.62000058G>T, NR_110634.1:n.2593G>A, NR_110634.1:n.2593G>T

Select item 148285028517.

rs1482850285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:63368216 (GRCh38)
20:61999568 (GRCh37)
Canonical SPDI:: NC_000020.11:63368215:G:C
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_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_000020.11:g.63368216G>C, NC_000020.10:g.61999568G>C, NR_110634.1:n.2103G>C

Select item 148271840418.

rs1482718404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63361895 (GRCh38)
20:61993247 (GRCh37)
Canonical SPDI:: NC_000020.11:63361894:G:A
Gene:: CHRNA4 (Varview), LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.63361895G>A, NC_000020.10:g.61993247G>A, NG_011931.1:g.4449C>T, NR_110634.1:n.260G>A

Select item 148209259419.

rs1482092594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63367837 (GRCh38)
20:61999189 (GRCh37)
Canonical SPDI:: NC_000020.11:63367836:A:G
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000318/5 (TOMMO)
G=0.001092/2 (Korea1K)
G=0.002396/7 (KOREAN)
HGVS:: NC_000020.11:g.63367837A>G, NC_000020.10:g.61999189A>G, NR_110634.1:n.1724A>G

Select item 148204816020.

rs1482048160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63368313 (GRCh38)
20:61999665 (GRCh37)
Canonical SPDI:: NC_000020.11:63368312:G:A
Gene:: LOC100130587 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63368313G>A, NC_000020.10:g.61999665G>A, NR_110634.1:n.2200G>A

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