SNP Links for Gene (Select 101929123) - SNP

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Select item 14914789211.

rs1491478921 has merged into rs762218790 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 4:17182251 (GRCh38)
4:17183874 (GRCh37)
Canonical SPDI:: NC_000004.12:17182240:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:17182240:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:17182240:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:17182240:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:17182240:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.05298/802 (TOMMO)
-=0.07205/116 (Korea1K)
HGVS:: NC_000004.12:g.17182251_17182252del, NC_000004.12:g.17182252del, NC_000004.12:g.17182252dup, NC_000004.12:g.17182251_17182252dup, NC_000004.12:g.17182244_17182252dup, NC_000004.11:g.17183874_17183875del, NC_000004.11:g.17183875del, NC_000004.11:g.17183875dup, NC_000004.11:g.17183874_17183875dup, NC_000004.11:g.17183867_17183875dup

Select item 14913190162.

rs1491319016 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:17182223 (GRCh38)
4:17183846 (GRCh37)
Canonical SPDI:: NC_000004.12:17182221:TGT:T
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00159/26 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.0012/97 (GnomAD)
-=0.00315/88 (TOMMO)
HGVS:: NC_000004.12:g.17182223_17182224del, NC_000004.11:g.17183846_17183847del

Select item 14912533323.

rs1491253332 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT,GTTTTTGTTTT [Show Flanks]
Chromosome:: 4:17182241 (GRCh38)
4:17183865 (GRCh37)
Canonical SPDI:: NC_000004.12:17182241:TTTT:TTTTGTTTT,NC_000004.12:17182241:TTTT:TTTTGTTTTTGTTTT
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTGTTTTTGTTTT=0.00086/10 (ALFA)
TTTTGTTTTTG=0.02008/318 (TOMMO)
TTTTGTTTTTG=0.02192/37 (Korea1K)
HGVS:: NC_000004.12:g.17182242_17182245T[4]GTTTT[1], NC_000004.12:g.17182242_17182245TTTTGT[2]TTT[1], NC_000004.11:g.17183865_17183868T[4]GTTTT[1], NC_000004.11:g.17183865_17183868TTTTGT[2]TTT[1]

Select item 14909948634.

rs1490994863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:17180159 (GRCh38)
4:17181782 (GRCh37)
Canonical SPDI:: NC_000004.12:17180158:T:C
Gene:: LINC02493 (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.17180159T>C, NC_000004.11:g.17181782T>C

Select item 14908293445.

rs1490829344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:17171294 (GRCh38)
4:17172917 (GRCh37)
Canonical SPDI:: NC_000004.12:17171293:T:C
Gene:: LINC02493 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.17171294T>C, NC_000004.11:g.17172917T>C

Select item 14905710576.

rs1490571057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:17186829 (GRCh38)
4:17188452 (GRCh37)
Canonical SPDI:: NC_000004.12:17186828:C:A
Gene:: LINC02493 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.17186829C>A, NC_000004.11:g.17188452C>A

Select item 14903405877.

rs1490340587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:17171857 (GRCh38)
4:17173480 (GRCh37)
Canonical SPDI:: NC_000004.12:17171856:G:T
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.17171857G>T, NC_000004.11:g.17173480G>T

Select item 14903169058.

rs1490316905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:17179433 (GRCh38)
4:17181056 (GRCh37)
Canonical SPDI:: NC_000004.12:17179432:A:T
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.17179433A>T, NC_000004.11:g.17181056A>T

Select item 14900148489.

rs1490014848 has merged into rs55934695 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:17180996 (GRCh38)
4:17182619 (GRCh37)
Canonical SPDI:: NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:17180982:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4265/2136 (1000Genomes)
HGVS:: NC_000004.12:g.17180996_17180998del, NC_000004.12:g.17180997_17180998del, NC_000004.12:g.17180998del, NC_000004.12:g.17180998dup, NC_000004.12:g.17180997_17180998dup, NC_000004.12:g.17180996_17180998dup, NC_000004.12:g.17180995_17180998dup, NC_000004.12:g.17180994_17180998dup, NC_000004.12:g.17180992_17180998dup, NC_000004.12:g.17180988_17180998dup, NC_000004.11:g.17182619_17182621del, NC_000004.11:g.17182620_17182621del, NC_000004.11:g.17182621del, NC_000004.11:g.17182621dup, NC_000004.11:g.17182620_17182621dup, NC_000004.11:g.17182619_17182621dup, NC_000004.11:g.17182618_17182621dup, NC_000004.11:g.17182617_17182621dup, NC_000004.11:g.17182615_17182621dup, NC_000004.11:g.17182611_17182621dup

Select item 148995885610.

rs1489958856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:17182008 (GRCh38)
4:17183631 (GRCh37)
Canonical SPDI:: NC_000004.12:17182007:G:A
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.17182008G>A, NC_000004.11:g.17183631G>A

Select item 148982574411.

rs1489825744 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:17173447 (GRCh38)
4:17175070 (GRCh37)
Canonical SPDI:: NC_000004.12:17173446:T:C
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.17173447T>C, NC_000004.11:g.17175070T>C

Select item 148962478912.

rs1489624789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:17177935 (GRCh38)
4:17179558 (GRCh37)
Canonical SPDI:: NC_000004.12:17177934:A:T
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.17177935A>T, NC_000004.11:g.17179558A>T

Select item 148924820113.

rs1489248201 has merged into rs71637623 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 4:17181341 (GRCh38)
4:17182964 (GRCh37)
Canonical SPDI:: NC_000004.12:17181334:GGGGGGGG:GGGGGG,NC_000004.12:17181334:GGGGGGGG:GGGGGGG,NC_000004.12:17181334:GGGGGGGG:GGGGGGGGG
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000038/10 (TOPMED)
-=0.006004/11 (Korea1K)
HGVS:: NC_000004.12:g.17181341_17181342del, NC_000004.12:g.17181342del, NC_000004.12:g.17181342dup, NC_000004.11:g.17182964_17182965del, NC_000004.11:g.17182965del, NC_000004.11:g.17182965dup

Select item 148921716414.

rs1489217164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:17182118 (GRCh38)
4:17183741 (GRCh37)
Canonical SPDI:: NC_000004.12:17182117:C:A,NC_000004.12:17182117:C:T
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.17182118C>A, NC_000004.12:g.17182118C>T, NC_000004.11:g.17183741C>A, NC_000004.11:g.17183741C>T

Select item 148906294815.

rs1489062948 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:17177279 (GRCh38)
4:17178902 (GRCh37)
Canonical SPDI:: NC_000004.12:17177278:A:G
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_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_000004.12:g.17177279A>G, NC_000004.11:g.17178902A>G

Select item 148903320116.

rs1489033201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:17179765 (GRCh38)
4:17181388 (GRCh37)
Canonical SPDI:: NC_000004.12:17179764:T:C
Gene:: LINC02493 (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.17179765T>C, NC_000004.11:g.17181388T>C

Select item 148887911517.

rs1488879115 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:17173903 (GRCh38)
4:17175526 (GRCh37)
Canonical SPDI:: NC_000004.12:17173902:G:
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.17173903del, NC_000004.11:g.17175526del

Select item 148884744718.

rs1488847447 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148858156519.

rs1488581565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:17178057 (GRCh38)
4:17179680 (GRCh37)
Canonical SPDI:: NC_000004.12:17178056:A:G
Gene:: LINC02493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.17178057A>G, NC_000004.11:g.17179680A>G

Select item 148838846420.

rs1488388464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:17186256 (GRCh38)
4:17187879 (GRCh37)
Canonical SPDI:: NC_000004.12:17186255:C:G
Gene:: LINC02493 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.17186256C>G, NC_000004.11:g.17187879C>G

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