SNP Links for Gene (Select 3791) - SNP

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Select item 14915119471.

rs1491511947 [Homo sapiens]

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

Select item 14915072032.

rs1491507203 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:55116417 (GRCh38)
4:55982584 (GRCh37)
Canonical SPDI:: NC_000004.12:55116416:CA:
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00223/63 (TOMMO)
-=0.01401/54 (ALSPAC)
-=0.01483/55 (TWINSUK)
HGVS:: NC_000004.12:g.55116417_55116418del, NC_000004.11:g.55982584_55982585del, NG_012004.1:g.14178_14179del

Select item 14914211143.

rs1491421114 has merged into rs5858314 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 4:55110791 (GRCh38)
4:55976958 (GRCh37)
Canonical SPDI:: NC_000004.12:55110780:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:55110780:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:55110780:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:55110780:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:55110780:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:55110780:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.55110791_55110793del, NC_000004.12:g.55110792_55110793del, NC_000004.12:g.55110793del, NC_000004.12:g.55110793dup, NC_000004.12:g.55110792_55110793dup, NC_000004.12:g.55110791_55110793dup, NC_000004.11:g.55976958_55976960del, NC_000004.11:g.55976959_55976960del, NC_000004.11:g.55976960del, NC_000004.11:g.55976960dup, NC_000004.11:g.55976959_55976960dup, NC_000004.11:g.55976958_55976960dup, NG_012004.1:g.19813_19815del, NG_012004.1:g.19814_19815del, NG_012004.1:g.19815del, NG_012004.1:g.19815dup, NG_012004.1:g.19814_19815dup, NG_012004.1:g.19813_19815dup

Select item 14914143484.

rs1491414348 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTATTTATTTA [Show Flanks]
Chromosome:: 4:55127251 (GRCh38)
4:55993419 (GRCh37)
Canonical SPDI:: NC_000004.12:55127251:TTATTTATTTA:TTATTTATTTAGTTATTTATTTA
Gene:: KDR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTATTTATTTAGTTATTTATTTA=0./0 (ALFA)
TTATTTATTTAG=0.00055/1 (Korea1K)
HGVS:: NC_000004.12:g.55127252_55127262TTAT[2]TTAGTTATTTATTTA[1], NC_000004.11:g.55993419_55993429TTAT[2]TTAGTTATTTATTTA[1], NG_012004.1:g.3334_3344TAAA[2]TAACTAAATAAATAA[1]

Select item 14910444755.

rs1491044475 has merged into rs111434117 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 4:55119218 (GRCh38)
4:55985385 (GRCh37)
Canonical SPDI:: NC_000004.12:55119206:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:55119206:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:55119206:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:55119206:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:55119206:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.073864/19551 (TOPMED)
-=0.113005/431 (1000Genomes)
A=0.15/6 (GENOME_DK)
A=0.175297/650 (TWINSUK)
A=0.178256/687 (ALSPAC)
HGVS:: NC_000004.12:g.55119218_55119219del, NC_000004.12:g.55119219del, NC_000004.12:g.55119219dup, NC_000004.12:g.55119218_55119219dup, NC_000004.12:g.55119217_55119219dup, NC_000004.11:g.55985385_55985386del, NC_000004.11:g.55985386del, NC_000004.11:g.55985386dup, NC_000004.11:g.55985385_55985386dup, NC_000004.11:g.55985384_55985386dup, NG_012004.1:g.11388_11389del, NG_012004.1:g.11389del, NG_012004.1:g.11389dup, NG_012004.1:g.11388_11389dup, NG_012004.1:g.11387_11389dup

Select item 14910384836.

rs1491038483 has merged into rs3034659 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:55120868 (GRCh38)
4:55987035 (GRCh37)
Canonical SPDI:: NC_000004.12:55120851:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000004.12:55120851:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000004.12:55120851:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:55120851:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:55120851:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:55120851:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:55120851:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.55120852GT[8], NC_000004.12:g.55120852GT[9], NC_000004.12:g.55120852GT[11], NC_000004.12:g.55120852GT[12], NC_000004.12:g.55120852GT[13], NC_000004.12:g.55120852GT[14], NC_000004.12:g.55120852GT[16], NC_000004.11:g.55987019GT[8], NC_000004.11:g.55987019GT[9], NC_000004.11:g.55987019GT[11], NC_000004.11:g.55987019GT[12], NC_000004.11:g.55987019GT[13], NC_000004.11:g.55987019GT[14], NC_000004.11:g.55987019GT[16], NG_012004.1:g.9725AC[8], NG_012004.1:g.9725AC[9], NG_012004.1:g.9725AC[11], NG_012004.1:g.9725AC[12], NG_012004.1:g.9725AC[13], NG_012004.1:g.9725AC[14], NG_012004.1:g.9725AC[16]

Select item 14909586977.

rs1490958697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:55107494 (GRCh38)
4:55973661 (GRCh37)
Canonical SPDI:: NC_000004.12:55107493:G:A,NC_000004.12:55107493:G:C
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.55107494G>A, NC_000004.12:g.55107494G>C, NC_000004.11:g.55973661G>A, NC_000004.11:g.55973661G>C, NG_012004.1:g.23102C>T, NG_012004.1:g.23102C>G

Select item 14909309908.

rs1490930990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:55081956 (GRCh38)
4:55948123 (GRCh37)
Canonical SPDI:: NC_000004.12:55081955:C:A,NC_000004.12:55081955:C:G,NC_000004.12:55081955:C:T
Gene:: KDR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55081956C>A, NC_000004.12:g.55081956C>G, NC_000004.12:g.55081956C>T, NC_000004.11:g.55948123C>A, NC_000004.11:g.55948123C>G, NC_000004.11:g.55948123C>T, NG_012004.1:g.48640G>T, NG_012004.1:g.48640G>C, NG_012004.1:g.48640G>A, NM_002253.4:c.3848G>T, NM_002253.4:c.3848G>C, NM_002253.4:c.3848G>A, NM_002253.3:c.3848G>T, NM_002253.3:c.3848G>C, NM_002253.3:c.3848G>A, NM_002253.2:c.3848G>T, NM_002253.2:c.3848G>C, NM_002253.2:c.3848G>A, NP_002244.1:p.Gly1283Val, NP_002244.1:p.Gly1283Ala, NP_002244.1:p.Gly1283Asp

Select item 14907549479.

rs1490754947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:55093994 (GRCh38)
4:55960161 (GRCh37)
Canonical SPDI:: NC_000004.12:55093993:G:A
Gene:: KDR (Varview)
Functional Consequence:: intron_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_000004.12:g.55093994G>A, NC_000004.11:g.55960161G>A, NG_012004.1:g.36602C>T

Select item 149072799210.

rs1490727992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:55118700 (GRCh38)
4:55984867 (GRCh37)
Canonical SPDI:: NC_000004.12:55118699:G:A,NC_000004.12:55118699:G:C
Gene:: KDR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.55118700G>A, NC_000004.12:g.55118700G>C, NC_000004.11:g.55984867G>A, NC_000004.11:g.55984867G>C, NG_012004.1:g.11896C>T, NG_012004.1:g.11896C>G, NM_002253.4:c.262C>T, NM_002253.4:c.262C>G, NM_002253.3:c.262C>T, NM_002253.3:c.262C>G, NM_002253.2:c.262C>T, NM_002253.2:c.262C>G, NP_002244.1:p.Leu88Phe, NP_002244.1:p.Leu88Val

Select item 149068859611.

rs1490688596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:55092903 (GRCh38)
4:55959070 (GRCh37)
Canonical SPDI:: NC_000004.12:55092902:C:A
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000004.12:g.55092903C>A, NC_000004.11:g.55959070C>A, NG_012004.1:g.37693G>T

Select item 149067509112.

rs1490675091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:55124741 (GRCh38)
4:55990908 (GRCh37)
Canonical SPDI:: NC_000004.12:55124740:G:C
Gene:: KDR (Varview)
Functional Consequence:: 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_000004.12:g.55124741G>C, NC_000004.11:g.55990908G>C, NG_012004.1:g.5855C>G

Select item 149047237513.

rs1490472375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:55085811 (GRCh38)
4:55951978 (GRCh37)
Canonical SPDI:: NC_000004.12:55085810:T:C
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.55085811T>C, NC_000004.11:g.55951978T>C, NG_012004.1:g.44785A>G

Select item 149044601614.

rs1490446016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:55125267 (GRCh38)
4:55991434 (GRCh37)
Canonical SPDI:: NC_000004.12:55125266:G:A,NC_000004.12:55125266:G:C
Gene:: KDR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55125267G>A, NC_000004.12:g.55125267G>C, NC_000004.11:g.55991434G>A, NC_000004.11:g.55991434G>C, NG_012004.1:g.5329C>T, NG_012004.1:g.5329C>G, NM_002253.4:c.27C>T, NM_002253.4:c.27C>G, NM_002253.3:c.27C>T, NM_002253.3:c.27C>G, NM_002253.2:c.27C>T, NM_002253.2:c.27C>G

Select item 149032586015.

rs1490325860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:55090435 (GRCh38)
4:55956602 (GRCh37)
Canonical SPDI:: NC_000004.12:55090434:C:T
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000043/6 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000004.12:g.55090435C>T, NC_000004.11:g.55956602C>T, NG_012004.1:g.40161G>A

Select item 149026064716.

rs1490260647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:55126130 (GRCh38)
4:55992297 (GRCh37)
Canonical SPDI:: NC_000004.12:55126129:G:T
Gene:: KDR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.55126130G>T, NC_000004.11:g.55992297G>T, NG_012004.1:g.4466C>A

Select item 149016796717.

rs1490167967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:55082653 (GRCh38)
4:55948820 (GRCh37)
Canonical SPDI:: NC_000004.12:55082652:T:A,NC_000004.12:55082652:T:C
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.55082653T>A, NC_000004.12:g.55082653T>C, NC_000004.11:g.55948820T>A, NC_000004.11:g.55948820T>C, NG_012004.1:g.47943A>T, NG_012004.1:g.47943A>G

Select item 149014236518.

rs1490142365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:55099271 (GRCh38)
4:55965438 (GRCh37)
Canonical SPDI:: NC_000004.12:55099270:T:C
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.55099271T>C, NC_000004.11:g.55965438T>C, NG_012004.1:g.31325A>G

Select item 149003394119.

rs1490033941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:55116941 (GRCh38)
4:55983108 (GRCh37)
Canonical SPDI:: NC_000004.12:55116940:G:C
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.55116941G>C, NC_000004.11:g.55983108G>C, NG_012004.1:g.13655C>G

Select item 148981375420.

rs1489813754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:55108553 (GRCh38)
4:55974720 (GRCh37)
Canonical SPDI:: NC_000004.12:55108552:G:A,NC_000004.12:55108552:G:C
Gene:: KDR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.55108553G>A, NC_000004.12:g.55108553G>C, NC_000004.11:g.55974720G>A, NC_000004.11:g.55974720G>C, NG_012004.1:g.22043C>T, NG_012004.1:g.22043C>G

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