SNP Links for Nucleotide (Select 224809308) - SNP

Links from Nucleotide

Items: 1 to 20 of 2789

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Select item 14914458121.

rs1491445812 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:203866529 (GRCh38)
2:204731252 (GRCh37)
Canonical SPDI:: NC_000002.12:203866527:AGA:A
Gene:: CTLA4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000029/4 (GnomAD)
-=0.000177/3 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.203866529_203866530del, NC_000002.11:g.204731252_204731253del, NG_011502.1:g.3744_3745del

Select item 14911453002.

rs1491145300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:203866528 (GRCh38)
2:204731252 (GRCh37)
Canonical SPDI:: NC_000002.12:203866528:G:GG
Gene:: CTLA4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.203866529dup, NC_000002.11:g.204731252dup, NG_011502.1:g.3744dup

Select item 14909816513.

rs1490981651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:203862876 (GRCh38)
2:204727599 (GRCh37)
Canonical SPDI:: NC_000002.12:203862875:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.203862876G>C, NC_000002.11:g.204727599G>C, NG_011502.1:g.91G>C

Select item 14906747144.

rs1490674714 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:203865412 (GRCh38)
2:204730136 (GRCh37)
Canonical SPDI:: NC_000002.12:203865412:T:TT
Validated:: by frequency,by alfa
MAF:: TT=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.203865413dup, NC_000002.11:g.204730136dup, NG_011502.1:g.2628dup

Select item 14902327995.

rs1490232799 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:203872382 (GRCh38)
2:204737105 (GRCh37)
Canonical SPDI:: NC_000002.12:203872380:TAT:T
Gene:: CTLA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000057/15 (TOPMED)
HGVS:: NC_000002.12:g.203872382_203872383del, NC_000002.11:g.204737105_204737106del, NG_011502.1:g.9597_9598del

Select item 14901828936.

rs1490182893 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14901644077.

rs1490164407 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:203863320 (GRCh38)
2:204728043 (GRCh37)
Canonical SPDI:: NC_000002.12:203863319:CC:C
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.203863321del, NC_000002.11:g.204728044del, NG_011502.1:g.536del

Select item 14898909698.

rs1489890969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:203864914 (GRCh38)
2:204729637 (GRCh37)
Canonical SPDI:: NC_000002.12:203864913:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.203864914C>T, NC_000002.11:g.204729637C>T, NG_011502.1:g.2129C>T

Select item 14895898179.

rs1489589817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:203867727 (GRCh38)
2:204732450 (GRCh37)
Canonical SPDI:: NC_000002.12:203867726:A:G
Gene:: CTLA4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.203867727A>G, NC_000002.11:g.204732450A>G, NG_011502.1:g.4942A>G

Select item 148856753510.

rs1488567535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:203864310 (GRCh38)
2:204729033 (GRCh37)
Canonical SPDI:: NC_000002.12:203864309:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.203864310A>T, NC_000002.11:g.204729033A>T, NG_011502.1:g.1525A>T

Select item 148830166411.

rs1488301664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:203871242 (GRCh38)
2:204735965 (GRCh37)
Canonical SPDI:: NC_000002.12:203871241:G:T
Gene:: CTLA4 (Varview)
Functional Consequence:: intron_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_000002.12:g.203871242G>T, NC_000002.11:g.204735965G>T, NG_011502.1:g.8457G>T

Select item 148780487912.

rs1487804879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:203874313 (GRCh38)
2:204739036 (GRCh37)
Canonical SPDI:: NC_000002.12:203874312:C:G,NC_000002.12:203874312:C:T
Gene:: CTLA4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.203874313C>G, NC_000002.12:g.203874313C>T, NC_000002.11:g.204739036C>G, NC_000002.11:g.204739036C>T, NG_011502.1:g.11528C>G, NG_011502.1:g.11528C>T

Select item 148772905513.

rs1487729055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:203862855 (GRCh38)
2:204727578 (GRCh37)
Canonical SPDI:: NC_000002.12:203862854:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.203862855A>G, NC_000002.11:g.204727578A>G, NG_011502.1:g.70A>G

Select item 148763174114.

rs1487631741 [Homo sapiens]

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

Select item 148751907315.

rs1487519073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:203869063 (GRCh38)
2:204733786 (GRCh37)
Canonical SPDI:: NC_000002.12:203869062:C:A
Gene:: CTLA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.203869063C>A, NC_000002.11:g.204733786C>A, NG_011502.1:g.6278C>A

Select item 148751662416.

rs1487516624 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:203865990 (GRCh38)
2:204730713 (GRCh37)
Canonical SPDI:: NC_000002.12:203865989:C:
Gene:: CTLA4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.203865990del, NC_000002.11:g.204730713del, NG_011502.1:g.3205del

Select item 148740311117.

rs1487403111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:203874432 (GRCh38)
2:204739155 (GRCh37)
Canonical SPDI:: NC_000002.12:203874431:G:A
Gene:: CTLA4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.203874432G>A, NC_000002.11:g.204739155G>A, NG_011502.1:g.11647G>A

Select item 148729022118.

rs1487290221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:203875530 (GRCh38)
2:204740253 (GRCh37)
Canonical SPDI:: NC_000002.12:203875529:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.203875530A>G, NC_000002.11:g.204740253A>G, NG_011502.1:g.12745A>G

Select item 148707971319.

rs1487079713 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:203873615 (GRCh38)
2:204738338 (GRCh37)
Canonical SPDI:: NC_000002.12:203873612:GTGT:GT
Gene:: CTLA4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000049/13 (TOPMED)
HGVS:: NC_000002.12:g.203873613GT[1], NC_000002.11:g.204738336GT[1], NG_011502.1:g.10828GT[1], NM_005214.5:c.*801GT[1], NM_005214.4:c.*801GT[1], NM_001037631.3:c.*838GT[1], NM_001037631.2:c.*838GT[1]

Select item 148705178220.

rs1487051782 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:203873260 (GRCh38)
2:204737983 (GRCh37)
Canonical SPDI:: NC_000002.12:203873259:AA:A
Gene:: CTLA4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.203873261del, NC_000002.11:g.204737984del, NG_011502.1:g.10476del, NM_005214.5:c.*449del, NM_005214.4:c.*449del, NM_001037631.3:c.*486del, NM_001037631.2:c.*486del

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