SNP Links for Gene (Select 440131) - SNP

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Select item 14915044611.

rs1491504461 has merged into rs969529703 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 13:29945853 (GRCh38)
13:30519990 (GRCh37)
Canonical SPDI:: NC_000013.11:29945852:TTTTTTTT:TTTTTTT,NC_000013.11:29945852:TTTTTTTT:TTTTTTTTT
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.00027/5 (ALFA)
-=0.00006/1 (TOMMO)
-=0.00094/6 (1000Genomes)
-=0.00112/5 (Estonian)
HGVS:: NC_000013.11:g.29945860del, NC_000013.11:g.29945860dup, NC_000013.10:g.30519997del, NC_000013.10:g.30519997dup

Select item 14905687402.

rs1490568740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:29948112 (GRCh38)
13:30522249 (GRCh37)
Canonical SPDI:: NC_000013.11:29948111:A:G
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.29948112A>G, NC_000013.10:g.30522249A>G

Select item 14902528713.

rs1490252871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:29941521 (GRCh38)
13:30515658 (GRCh37)
Canonical SPDI:: NC_000013.11:29941520:G:A
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.29941521G>A, NC_000013.10:g.30515658G>A

Select item 14901042744.

rs1490104274 has merged into rs530689920 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:29945142 (GRCh38)
13:30519279 (GRCh37)
Canonical SPDI:: NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:29945131:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAA=0.358/1793 (1000Genomes)
HGVS:: NC_000013.11:g.29945142_29945170del, NC_000013.11:g.29945144_29945170del, NC_000013.11:g.29945145_29945170del, NC_000013.11:g.29945146_29945170del, NC_000013.11:g.29945147_29945170del, NC_000013.11:g.29945148_29945170del, NC_000013.11:g.29945149_29945170del, NC_000013.11:g.29945150_29945170del, NC_000013.11:g.29945151_29945170del, NC_000013.11:g.29945152_29945170del, NC_000013.11:g.29945153_29945170del, NC_000013.11:g.29945154_29945170del, NC_000013.11:g.29945155_29945170del, NC_000013.11:g.29945156_29945170del, NC_000013.11:g.29945157_29945170del, NC_000013.11:g.29945158_29945170del, NC_000013.11:g.29945159_29945170del, NC_000013.11:g.29945160_29945170del, NC_000013.11:g.29945161_29945170del, NC_000013.11:g.29945162_29945170del, NC_000013.11:g.29945163_29945170del, NC_000013.11:g.29945164_29945170del, NC_000013.11:g.29945166_29945170del, NC_000013.11:g.29945167_29945170del, NC_000013.11:g.29945168_29945170del, NC_000013.11:g.29945169_29945170del, NC_000013.11:g.29945170del, NC_000013.11:g.29945170dup, NC_000013.11:g.29945169_29945170dup, NC_000013.11:g.29945168_29945170dup, NC_000013.11:g.29945167_29945170dup, NC_000013.11:g.29945166_29945170dup, NC_000013.11:g.29945165_29945170dup, NC_000013.11:g.29945164_29945170dup, NC_000013.11:g.29945163_29945170dup, NC_000013.11:g.29945162_29945170dup, NC_000013.11:g.29945161_29945170dup, NC_000013.11:g.29945160_29945170dup, NC_000013.11:g.29945159_29945170dup, NC_000013.11:g.29945158_29945170dup, NC_000013.11:g.29945157_29945170dup, NC_000013.11:g.29945156_29945170dup, NC_000013.11:g.29945148_29945170dup, NC_000013.11:g.29945145_29945170dup, NC_000013.10:g.30519279_30519307del, NC_000013.10:g.30519281_30519307del, NC_000013.10:g.30519282_30519307del, NC_000013.10:g.30519283_30519307del, NC_000013.10:g.30519284_30519307del, NC_000013.10:g.30519285_30519307del, NC_000013.10:g.30519286_30519307del, NC_000013.10:g.30519287_30519307del, NC_000013.10:g.30519288_30519307del, NC_000013.10:g.30519289_30519307del, NC_000013.10:g.30519290_30519307del, NC_000013.10:g.30519291_30519307del, NC_000013.10:g.30519292_30519307del, NC_000013.10:g.30519293_30519307del, NC_000013.10:g.30519294_30519307del, NC_000013.10:g.30519295_30519307del, NC_000013.10:g.30519296_30519307del, NC_000013.10:g.30519297_30519307del, NC_000013.10:g.30519298_30519307del, NC_000013.10:g.30519299_30519307del, NC_000013.10:g.30519300_30519307del, NC_000013.10:g.30519301_30519307del, NC_000013.10:g.30519303_30519307del, NC_000013.10:g.30519304_30519307del, NC_000013.10:g.30519305_30519307del, NC_000013.10:g.30519306_30519307del, NC_000013.10:g.30519307del, NC_000013.10:g.30519307dup, NC_000013.10:g.30519306_30519307dup, NC_000013.10:g.30519305_30519307dup, NC_000013.10:g.30519304_30519307dup, NC_000013.10:g.30519303_30519307dup, NC_000013.10:g.30519302_30519307dup, NC_000013.10:g.30519301_30519307dup, NC_000013.10:g.30519300_30519307dup, NC_000013.10:g.30519299_30519307dup, NC_000013.10:g.30519298_30519307dup, NC_000013.10:g.30519297_30519307dup, NC_000013.10:g.30519296_30519307dup, NC_000013.10:g.30519295_30519307dup, NC_000013.10:g.30519294_30519307dup, NC_000013.10:g.30519293_30519307dup, NC_000013.10:g.30519285_30519307dup, NC_000013.10:g.30519282_30519307dup

Select item 14900680405.

rs1490068040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:29937953 (GRCh38)
13:30512090 (GRCh37)
Canonical SPDI:: NC_000013.11:29937952:G:A,NC_000013.11:29937952:G:T
Gene:: LINC00544 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.29937953G>A, NC_000013.11:g.29937953G>T, NC_000013.10:g.30512090G>A, NC_000013.10:g.30512090G>T, NM_001099778.1:c.6G>A, NM_001099778.1:c.6G>T, NR_033889.1:n.299G>A, NR_033889.1:n.299G>T, NM_001010918.1:c.6G>A, NM_001010918.1:c.6G>T

Select item 14899004016.

rs1489900401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:29938398 (GRCh38)
13:30512535 (GRCh37)
Canonical SPDI:: NC_000013.11:29938397:C:T
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.29938398C>T, NC_000013.10:g.30512535C>T

Select item 14891800117.

rs1489180011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:29940548 (GRCh38)
13:30514685 (GRCh37)
Canonical SPDI:: NC_000013.11:29940547:C:T
Gene:: LINC00544 (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_000013.11:g.29940548C>T, NC_000013.10:g.30514685C>T

Select item 14891484258.

rs1489148425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:29947715 (GRCh38)
13:30521852 (GRCh37)
Canonical SPDI:: NC_000013.11:29947714:T:C
Gene:: LINC00544 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.29947715T>C, NC_000013.10:g.30521852T>C, NM_001099778.1:c.175T>C, NR_033889.1:n.468T>C, NM_001010918.1:c.175T>C

Select item 14887299339.

rs1488729933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:29950855 (GRCh38)
13:30524992 (GRCh37)
Canonical SPDI:: NC_000013.11:29950854:C:T
Gene:: LINC00544 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.29950855C>T, NC_000013.10:g.30524992C>T

Select item 148869072010.

rs1488690720 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTG>- [Show Flanks]
Chromosome:: 13:29939758 (GRCh38)
13:30513895 (GRCh37)
Canonical SPDI:: NC_000013.11:29939756:GCTG:G
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.29939758_29939760del, NC_000013.10:g.30513895_30513897del

Select item 148848665411.

rs1488486654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:29937031 (GRCh38)
13:30511168 (GRCh37)
Canonical SPDI:: NC_000013.11:29937030:A:G
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.29937031A>G, NC_000013.10:g.30511168A>G

Select item 148824280212.

rs1488242802 has merged into rs5802541 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 13:29940641 (GRCh38)
13:30514778 (GRCh37)
Canonical SPDI:: NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000013.11:29940622:ACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACAC=0./0 (ALFA)
AC=0.025/1 (GENOME_DK)
ACACACACAC=0.0761/381 (1000Genomes)
HGVS:: NC_000013.11:g.29940623AC[9], NC_000013.11:g.29940623AC[10], NC_000013.11:g.29940623AC[11], NC_000013.11:g.29940623AC[12], NC_000013.11:g.29940623AC[13], NC_000013.11:g.29940623AC[14], NC_000013.11:g.29940623AC[15], NC_000013.11:g.29940623AC[16], NC_000013.11:g.29940623AC[17], NC_000013.11:g.29940623AC[18], NC_000013.11:g.29940623AC[19], NC_000013.11:g.29940623AC[20], NC_000013.11:g.29940623AC[21], NC_000013.11:g.29940623AC[23], NC_000013.11:g.29940623AC[24], NC_000013.11:g.29940623AC[25], NC_000013.11:g.29940623AC[26], NC_000013.11:g.29940623AC[27], NC_000013.11:g.29940623AC[28], NC_000013.11:g.29940623AC[29], NC_000013.11:g.29940623AC[30], NC_000013.10:g.30514760AC[9], NC_000013.10:g.30514760AC[10], NC_000013.10:g.30514760AC[11], NC_000013.10:g.30514760AC[12], NC_000013.10:g.30514760AC[13], NC_000013.10:g.30514760AC[14], NC_000013.10:g.30514760AC[15], NC_000013.10:g.30514760AC[16], NC_000013.10:g.30514760AC[17], NC_000013.10:g.30514760AC[18], NC_000013.10:g.30514760AC[19], NC_000013.10:g.30514760AC[20], NC_000013.10:g.30514760AC[21], NC_000013.10:g.30514760AC[23], NC_000013.10:g.30514760AC[24], NC_000013.10:g.30514760AC[25], NC_000013.10:g.30514760AC[26], NC_000013.10:g.30514760AC[27], NC_000013.10:g.30514760AC[28], NC_000013.10:g.30514760AC[29], NC_000013.10:g.30514760AC[30]

Select item 148819823813.

rs1488198238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:29940919 (GRCh38)
13:30515056 (GRCh37)
Canonical SPDI:: NC_000013.11:29940918:C:G
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.29940919C>G, NC_000013.10:g.30515056C>G

Select item 148803332614.

rs1488033326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:29937445 (GRCh38)
13:30511582 (GRCh37)
Canonical SPDI:: NC_000013.11:29937444:C:G
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.29937445C>G, NC_000013.10:g.30511582C>G

Select item 148770160815.

rs1487701608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:29940699 (GRCh38)
13:30514836 (GRCh37)
Canonical SPDI:: NC_000013.11:29940698:T:C,NC_000013.11:29940698:T:G
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.29940699T>C, NC_000013.11:g.29940699T>G, NC_000013.10:g.30514836T>C, NC_000013.10:g.30514836T>G

Select item 148767041116.

rs1487670411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:29938524 (GRCh38)
13:30512661 (GRCh37)
Canonical SPDI:: NC_000013.11:29938523:T:C
Gene:: LINC00544 (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_000013.11:g.29938524T>C, NC_000013.10:g.30512661T>C

Select item 148734064817.

rs1487340648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:29939526 (GRCh38)
13:30513663 (GRCh37)
Canonical SPDI:: NC_000013.11:29939525:G:A,NC_000013.11:29939525:G:C
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000013.11:g.29939526G>A, NC_000013.11:g.29939526G>C, NC_000013.10:g.30513663G>A, NC_000013.10:g.30513663G>C

Select item 148731364418.

rs1487313644 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 13:29947187 (GRCh38)
13:30521324 (GRCh37)
Canonical SPDI:: NC_000013.11:29947184:CTCT:CT
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.29947185CT[1], NC_000013.10:g.30521322CT[1]

Select item 148721349319.

rs1487213493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:29941438 (GRCh38)
13:30515575 (GRCh37)
Canonical SPDI:: NC_000013.11:29941437:G:A
Gene:: LINC00544 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.29941438G>A, NC_000013.10:g.30515575G>A

Select item 148715031620.

rs1487150316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:29935005 (GRCh38)
13:30509142 (GRCh37)
Canonical SPDI:: NC_000013.11:29935004:G:A
Gene:: LINC00544 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.29935005G>A, NC_000013.10:g.30509142G>A

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