SNP Links for Gene (Select 339539) - SNP

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Items: 1 to 20 of 7014

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Select item 14914291161.

rs1491429116 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACGC [Show Flanks]
Chromosome:: 1:42861857 (GRCh38)
1:43327529 (GRCh37)
Canonical SPDI:: NC_000001.11:42861857:CGC:CGCACACACGC
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGCACACACGC=0./0 (ALFA)
CGCACACA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42861860_42861861insACACACGC, NC_000001.10:g.43327531_43327532insACACACGC

Select item 14912649422.

rs1491264942 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:42875108 (GRCh38)
1:43340779 (GRCh37)
Canonical SPDI:: NC_000001.11:42875107:AT:
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00167/1 (NorthernSweden)
-=0.00292/152 (GnomAD)
HGVS:: NC_000001.11:g.42875108_42875109del, NC_000001.10:g.43340779_43340780del

Select item 14912108983.

rs1491210898 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:42855703 (GRCh38)
1:43321375 (GRCh37)
Canonical SPDI:: NC_000001.11:42855703::C
Gene:: LOC339539 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.00346/41 (ALFA)
HGVS:: NC_000001.11:g.42855703_42855704insC, NC_000001.10:g.43321374_43321375insC

Select item 14911721764.

rs1491172176 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:42861855 (GRCh38)
1:43327526 (GRCh37)
Canonical SPDI:: NC_000001.11:42861854:AT:
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00995/118 (ALFA)
-=0.00011/2 (TOMMO)
-=0.02158/1916 (GnomAD)
HGVS:: NC_000001.11:g.42861855_42861856del, NC_000001.10:g.43327526_43327527del

Select item 14911226935.

rs1491122693 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG,CGCG,G [Show Flanks]
Chromosome:: 1:42875108 (GRCh38)
1:43340780 (GRCh37)
Canonical SPDI:: NC_000001.11:42875108::CG,NC_000001.11:42875108::CGCG,NC_000001.11:42875108::G
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCG=0./0 (ALFA)
CG=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.42875108_42875109insCG, NC_000001.11:g.42875108_42875109insCGCG, NC_000001.11:g.42875108_42875109insG, NC_000001.10:g.43340779_43340780insCG, NC_000001.10:g.43340779_43340780insCGCG, NC_000001.10:g.43340779_43340780insG

Select item 14911148426.

rs1491114842 has merged into rs56053325 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42855717 (GRCh38)
1:43321388 (GRCh37)
Canonical SPDI:: NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:42855702:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC339539 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.42855717_42855725del, NC_000001.11:g.42855718_42855725del, NC_000001.11:g.42855719_42855725del, NC_000001.11:g.42855720_42855725del, NC_000001.11:g.42855721_42855725del, NC_000001.11:g.42855722_42855725del, NC_000001.11:g.42855723_42855725del, NC_000001.11:g.42855724_42855725del, NC_000001.11:g.42855725del, NC_000001.11:g.42855725dup, NC_000001.11:g.42855724_42855725dup, NC_000001.11:g.42855723_42855725dup, NC_000001.11:g.42855722_42855725dup, NC_000001.11:g.42855721_42855725dup, NC_000001.11:g.42855720_42855725dup, NC_000001.11:g.42855719_42855725dup, NC_000001.11:g.42855718_42855725dup, NC_000001.11:g.42855717_42855725dup, NC_000001.11:g.42855716_42855725dup, NC_000001.11:g.42855714_42855725dup, NC_000001.11:g.42855713_42855725dup, NC_000001.10:g.43321388_43321396del, NC_000001.10:g.43321389_43321396del, NC_000001.10:g.43321390_43321396del, NC_000001.10:g.43321391_43321396del, NC_000001.10:g.43321392_43321396del, NC_000001.10:g.43321393_43321396del, NC_000001.10:g.43321394_43321396del, NC_000001.10:g.43321395_43321396del, NC_000001.10:g.43321396del, NC_000001.10:g.43321396dup, NC_000001.10:g.43321395_43321396dup, NC_000001.10:g.43321394_43321396dup, NC_000001.10:g.43321393_43321396dup, NC_000001.10:g.43321392_43321396dup, NC_000001.10:g.43321391_43321396dup, NC_000001.10:g.43321390_43321396dup, NC_000001.10:g.43321389_43321396dup, NC_000001.10:g.43321388_43321396dup, NC_000001.10:g.43321387_43321396dup, NC_000001.10:g.43321385_43321396dup, NC_000001.10:g.43321384_43321396dup

Select item 14910268057.

rs1491026805 has merged into rs35148128 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:42876824 (GRCh38)
1:43342495 (GRCh37)
Canonical SPDI:: NC_000001.11:42876815:TTTTTTTTTT:TTTTTTTT,NC_000001.11:42876815:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:42876815:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:42876815:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00023/3 (ALFA)
T=0.12244/454 (TWINSUK)
T=0.125/5 (GENOME_DK)
T=0.12725/127 (GoNL)
T=0.12792/493 (ALSPAC)
T=0.13351/588 (Estonian)
T=0.18031/903 (1000Genomes)
HGVS:: NC_000001.11:g.42876824_42876825del, NC_000001.11:g.42876825del, NC_000001.11:g.42876825dup, NC_000001.11:g.42876824_42876825dup, NC_000001.10:g.43342495_43342496del, NC_000001.10:g.43342496del, NC_000001.10:g.43342496dup, NC_000001.10:g.43342495_43342496dup

Select item 14909284988.

rs1490928498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42855715 (GRCh38)
1:43321386 (GRCh37)
Canonical SPDI:: NC_000001.11:42855714:A:C
Gene:: LOC339539 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000422/5 (ALFA)
C=0.00028/39 (GnomAD)
C=0.000625/4 (1000Genomes)
HGVS:: NC_000001.11:g.42855715A>C, NC_000001.10:g.43321386A>C

Select item 14906286469.

rs1490628646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42876831 (GRCh38)
1:43342502 (GRCh37)
Canonical SPDI:: NC_000001.11:42876830:G:T
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0063/28 (ALFA)
HGVS:: NC_000001.11:g.42876831G>T, NC_000001.10:g.43342502G>T

Select item 149056132110.

rs1490561321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42877545 (GRCh38)
1:43343216 (GRCh37)
Canonical SPDI:: NC_000001.11:42877544:A:G
Gene:: LOC339539 (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_000001.11:g.42877545A>G, NC_000001.10:g.43343216A>G

Select item 149023387711.

rs1490233877 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:42876554 (GRCh38)
1:43342226 (GRCh37)
Canonical SPDI:: NC_000001.11:42876554:C:CC
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42876555dup, NC_000001.10:g.43342226dup

Select item 149017113012.

rs1490171130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42857184 (GRCh38)
1:43322855 (GRCh37)
Canonical SPDI:: NC_000001.11:42857183:C:T
Gene:: LOC339539 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.42857184C>T, NC_000001.10:g.43322855C>T

Select item 149004795913.

rs1490047959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42859072 (GRCh38)
1:43324743 (GRCh37)
Canonical SPDI:: NC_000001.11:42859071:C:T
Gene:: LOC339539 (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_000001.11:g.42859072C>T, NC_000001.10:g.43324743C>T

Select item 149001871914.

rs1490018719 has merged into rs1241394729 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:42875956 (GRCh38)
1:43341627 (GRCh37)
Canonical SPDI:: NC_000001.11:42875955:TTTTTTTT:TTTTTTT,NC_000001.11:42875955:TTTTTTTT:TTTTTTTTT
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000057/8 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.42875963del, NC_000001.11:g.42875963dup, NC_000001.10:g.43341634del, NC_000001.10:g.43341634dup

Select item 148999239815.

rs1489992398 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTATT>- [Show Flanks]
Chromosome:: 1:42860681 (GRCh38)
1:43326352 (GRCh37)
Canonical SPDI:: NC_000001.11:42860678:TTAGTATT:TT
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42860681_42860686del, NC_000001.10:g.43326352_43326357del

Select item 148983512916.

rs1489835129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42885650 (GRCh38)
1:43351321 (GRCh37)
Canonical SPDI:: NC_000001.11:42885649:T:C
Gene:: LOC339539 (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)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.42885650T>C, NC_000001.10:g.43351321T>C

Select item 148948549417.

rs1489485494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42883737 (GRCh38)
1:43349408 (GRCh37)
Canonical SPDI:: NC_000001.11:42883736:A:C
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42883737A>C, NC_000001.10:g.43349408A>C

Select item 148941323118.

rs1489413231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:42879943 (GRCh38)
1:43345614 (GRCh37)
Canonical SPDI:: NC_000001.11:42879942:T:A
Gene:: LOC339539 (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_000001.11:g.42879943T>A, NC_000001.10:g.43345614T>A

Select item 148939895219.

rs1489398952 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:42869788 (GRCh38)
1:43335459 (GRCh37)
Canonical SPDI:: NC_000001.11:42869787:AG:
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.42869788_42869789del, NC_000001.10:g.43335459_43335460del

Select item 148918154920.

rs1489181549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:42871819 (GRCh38)
1:43337490 (GRCh37)
Canonical SPDI:: NC_000001.11:42871818:C:G
Gene:: LOC339539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.42871819C>G, NC_000001.10:g.43337490C>G

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