SNP Links for Gene (Select 163732) - SNP

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Links from Gene

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Select item 14914815211.

rs1491481521 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:40862493 (GRCh38)
1:41328166 (GRCh37)
Canonical SPDI:: NC_000001.11:40862493:T:TT
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.40862494dup, NC_000001.10:g.41328166dup, XR_007066025.1:n.111dup, XR_007066024.1:n.111dup

Select item 14908859702.

rs1490885970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:40862570 (GRCh38)
1:41328242 (GRCh37)
Canonical SPDI:: NC_000001.11:40862569:C:T
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.40862570C>T, NC_000001.10:g.41328242C>T, XR_007066025.1:n.187C>T, XR_007066024.1:n.187C>T

Select item 14900898523.

rs1490089852 has merged into rs3070309 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>-,CTTCTT [Show Flanks]
Chromosome:: 1:40863974 (GRCh38)
1:41329646 (GRCh37)
Canonical SPDI:: NC_000001.11:40863968:TTCTTCTT:TTCTT,NC_000001.11:40863968:TTCTTCTT:TTCTTCTTCTT
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTCTTCTT=0.02332/332 (ALFA)
TTC=0.04746/176 (TWINSUK)
TTC=0.05/30 (NorthernSweden)
TTC=0.05189/200 (ALSPAC)
TTC=0.05411/54 (GoNL)
TTC=0.075/336 (Estonian)
TTC=0.15/6 (GENOME_DK)
TTC=0.22604/1132 (1000Genomes)
TTC=0.43559/798 (Korea1K)
HGVS:: NC_000001.11:g.40863971CTT[1], NC_000001.11:g.40863971CTT[3], NC_000001.10:g.41329643CTT[1], NC_000001.10:g.41329643CTT[3]

Select item 14900651184.

rs1490065118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:40862998 (GRCh38)
1:41328670 (GRCh37)
Canonical SPDI:: NC_000001.11:40862997:A:C,NC_000001.11:40862997:A:G
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000001.11:g.40862998A>C, NC_000001.11:g.40862998A>G, NC_000001.10:g.41328670A>C, NC_000001.10:g.41328670A>G, XR_007066025.1:n.615A>C, XR_007066025.1:n.615A>G, XR_007066024.1:n.469A>C, XR_007066024.1:n.469A>G

Select item 14899022945.

rs1489902294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:40863387 (GRCh38)
1:41329059 (GRCh37)
Canonical SPDI:: NC_000001.11:40863386:C:T
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.40863387C>T, NC_000001.10:g.41329059C>T

Select item 14890379636.

rs1489037963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:40861809 (GRCh38)
1:41327481 (GRCh37)
Canonical SPDI:: NC_000001.11:40861808:G:C
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_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_000001.11:g.40861809G>C, NC_000001.10:g.41327481G>C, NM_133467.3:c.319C>G, NM_133467.2:c.319C>G, NP_597724.1:p.Pro107Ala

Select item 14889871567.

rs1488987156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:40861126 (GRCh38)
1:41326798 (GRCh37)
Canonical SPDI:: NC_000001.11:40861125:A:C,NC_000001.11:40861125:A:G
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
C=0.001638/3 (Korea1K)
HGVS:: NC_000001.11:g.40861126A>C, NC_000001.11:g.40861126A>G, NC_000001.10:g.41326798A>C, NC_000001.10:g.41326798A>G, NM_133467.3:c.*447T>G, NM_133467.3:c.*447T>C, NM_133467.2:c.*447T>G, NM_133467.2:c.*447T>C

Select item 14880571688.

rs1488057168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:40861789 (GRCh38)
1:41327461 (GRCh37)
Canonical SPDI:: NC_000001.11:40861788:C:G,NC_000001.11:40861788:C:T
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00045/2 (Estonian)
HGVS:: NC_000001.11:g.40861789C>G, NC_000001.11:g.40861789C>T, NC_000001.10:g.41327461C>G, NC_000001.10:g.41327461C>T, NM_133467.3:c.339G>C, NM_133467.3:c.339G>A, NM_133467.2:c.339G>C, NM_133467.2:c.339G>A

Select item 14880045789.

rs1488004578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:40864029 (GRCh38)
1:41329701 (GRCh37)
Canonical SPDI:: NC_000001.11:40864028:G:A,NC_000001.11:40864028:G:C
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.40864029G>A, NC_000001.11:g.40864029G>C, NC_000001.10:g.41329701G>A, NC_000001.10:g.41329701G>C

Select item 148666622810.

rs1486666228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:40862381 (GRCh38)
1:41328053 (GRCh37)
Canonical SPDI:: NC_000001.11:40862380:G:A,NC_000001.11:40862380:G:C
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.40862381G>A, NC_000001.11:g.40862381G>C, NC_000001.10:g.41328053G>A, NC_000001.10:g.41328053G>C

Select item 148655150111.

rs1486551501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:40862462 (GRCh38)
1:41328134 (GRCh37)
Canonical SPDI:: NC_000001.11:40862461:G:A
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.40862462G>A, NC_000001.10:g.41328134G>A, XR_007066025.1:n.79G>A, XR_007066024.1:n.79G>A

Select item 148622787712.

rs1486227877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:40863385 (GRCh38)
1:41329057 (GRCh37)
Canonical SPDI:: NC_000001.11:40863384:C:T
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.40863385C>T, NC_000001.10:g.41329057C>T

Select item 148565028113.

rs1485650281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:40863561 (GRCh38)
1:41329233 (GRCh37)
Canonical SPDI:: NC_000001.11:40863560:C:G,NC_000001.11:40863560:C:T
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.40863561C>G, NC_000001.11:g.40863561C>T, NC_000001.10:g.41329233C>G, NC_000001.10:g.41329233C>T

Select item 148538705114.

rs1485387051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:40860712 (GRCh38)
1:41326384 (GRCh37)
Canonical SPDI:: NC_000001.11:40860711:T:C,NC_000001.11:40860711:T:G
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.40860712T>C, NC_000001.11:g.40860712T>G, NC_000001.10:g.41326384T>C, NC_000001.10:g.41326384T>G

Select item 148476364415.

rs1484763644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:40862331 (GRCh38)
1:41328003 (GRCh37)
Canonical SPDI:: NC_000001.11:40862330:G:A,NC_000001.11:40862330:G:C
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.40862331G>A, NC_000001.11:g.40862331G>C, NC_000001.10:g.41328003G>A, NC_000001.10:g.41328003G>C, NM_133467.3:c.-204C>T, NM_133467.3:c.-204C>G, NM_133467.2:c.-204C>T, NM_133467.2:c.-204C>G

Select item 148380872916.

rs1483808729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:40862143 (GRCh38)
1:41327815 (GRCh37)
Canonical SPDI:: NC_000001.11:40862142:G:A
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.40862143G>A, NC_000001.10:g.41327815G>A, NM_133467.3:c.-16C>T, NM_133467.2:c.-16C>T

Select item 148359980717.

rs1483599807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:40864090 (GRCh38)
1:41329762 (GRCh37)
Canonical SPDI:: NC_000001.11:40864089:A:G
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.40864090A>G, NC_000001.10:g.41329762A>G

Select item 148339667818.

rs1483396678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:40861868 (GRCh38)
1:41327540 (GRCh37)
Canonical SPDI:: NC_000001.11:40861867:G:C
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.40861868G>C, NC_000001.10:g.41327540G>C, NM_133467.3:c.260C>G, NM_133467.2:c.260C>G, NP_597724.1:p.Ala87Gly

Select item 148290978719.

rs1482909787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:40862045 (GRCh38)
1:41327717 (GRCh37)
Canonical SPDI:: NC_000001.11:40862044:G:A
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40862045G>A, NC_000001.10:g.41327717G>A, NM_133467.3:c.83C>T, NM_133467.2:c.83C>T, NP_597724.1:p.Ala28Val

Select item 148219533720.

rs1482195337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:40862633 (GRCh38)
1:41328305 (GRCh37)
Canonical SPDI:: NC_000001.11:40862632:T:C
Gene:: CITED4 (Varview), LOC124904157 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.40862633T>C, NC_000001.10:g.41328305T>C, XR_007066025.1:n.250T>C, XR_007066024.1:n.250T>C