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Select item 14914573601.

rs1491457360 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 13:106513505 (GRCh38)
13:107165854 (GRCh37)
Canonical SPDI:: NC_000013.11:106513505::C
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.106513505_106513506insC, NC_000013.10:g.107165853_107165854insC

Select item 14913884292.

rs1491388429 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC,GCGC [Show Flanks]
Chromosome:: 13:106509670 (GRCh38)
13:107162019 (GRCh37)
Canonical SPDI:: NC_000013.11:106509670:GC:GCGC,NC_000013.11:106509670:GC:GCGCGC
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGC=0./0 (ALFA)
GC=0./0 (GnomAD)
HGVS:: NC_000013.11:g.106509671_106509672dup, NC_000013.11:g.106509671GC[3], NC_000013.10:g.107162019_107162020dup, NC_000013.10:g.107162019GC[3]

Select item 14913856393.

rs1491385639 has merged into rs3840809 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 13:106536830 (GRCh38)
13:107189178 (GRCh37)
Canonical SPDI:: NC_000013.11:106536823:TTTTTTTT:TTTTTT,NC_000013.11:106536823:TTTTTTTT:TTTTTTT,NC_000013.11:106536823:TTTTTTTT:TTTTTTTTT,NC_000013.11:106536823:TTTTTTTT:TTTTTTTTTT
Gene:: EFNB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.18236/3056 (TOMMO)
T=0.45937/2058 (Estonian)
T=0.46333/278 (NorthernSweden)
T=0.47344/2371 (1000Genomes)
T=0.49299/1900 (ALSPAC)
T=0.49353/1830 (TWINSUK)
-=0.499/498 (GoNL)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000013.11:g.106536830_106536831del, NC_000013.11:g.106536831del, NC_000013.11:g.106536831dup, NC_000013.11:g.106536830_106536831dup, NC_000013.10:g.107189178_107189179del, NC_000013.10:g.107189179del, NC_000013.10:g.107189179dup, NC_000013.10:g.107189178_107189179dup

Select item 14913669304.

rs1491366930 has merged into rs142677050 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: 13:106532831 (GRCh38)
13:107185179 (GRCh37)
Canonical SPDI:: NC_000013.11:106532822:GGGGGGGGGG:GGGGGGGG,NC_000013.11:106532822:GGGGGGGGGG:GGGGGGGGG,NC_000013.11:106532822:GGGGGGGGGG:GGGGGGGGGGG,NC_000013.11:106532822:GGGGGGGGGG:GGGGGGGGGGGG,NC_000013.11:106532822:GGGGGGGGGG:GGGGGGGGGGGGG
Gene:: EFNB2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
G=0.075879/380 (1000Genomes)
G=0.125/5 (GENOME_DK)
G=0.226335/1009 (Estonian)
HGVS:: NC_000013.11:g.106532831_106532832del, NC_000013.11:g.106532832del, NC_000013.11:g.106532832dup, NC_000013.11:g.106532831_106532832dup, NC_000013.11:g.106532830_106532832dup, NC_000013.10:g.107185179_107185180del, NC_000013.10:g.107185180del, NC_000013.10:g.107185180dup, NC_000013.10:g.107185179_107185180dup, NC_000013.10:g.107185178_107185180dup

Select item 14912277085.

rs1491227708 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 13:106532823 (GRCh38)
13:107185172 (GRCh37)
Canonical SPDI:: NC_000013.11:106532823::C,NC_000013.11:106532823::T
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00028/4 (TOMMO)
HGVS:: NC_000013.11:g.106532823_106532824insC, NC_000013.11:g.106532823_106532824insT, NC_000013.10:g.107185171_107185172insC, NC_000013.10:g.107185171_107185172insT

Select item 14911855796.

rs1491185579 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 13:106536823 (GRCh38)
13:107189171 (GRCh37)
Canonical SPDI:: NC_000013.11:106536822:GT:
Gene:: EFNB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000028/3 (GnomAD)
HGVS:: NC_000013.11:g.106536823_106536824del, NC_000013.10:g.107189171_107189172del

Select item 14909823217.

rs1490982321 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:106497024 (GRCh38)
13:107149372 (GRCh37)
Canonical SPDI:: NC_000013.11:106497023:G:
Gene:: EFNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.106497024del, NC_000013.10:g.107149372del

Select item 14908144488.

rs1490814448 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 13:106495502 (GRCh38)
13:107147850 (GRCh37)
Canonical SPDI:: NC_000013.11:106495501:C:
Gene:: EFNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00216/36 (TOMMO)
-=0.00655/12 (Korea1K)
-=0.01406/976 (GnomAD)
HGVS:: NC_000013.11:g.106495502del, NC_000013.10:g.107147850del

Select item 14908115059.

rs1490811505 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 13:106530072 (GRCh38)
13:107182420 (GRCh37)
Canonical SPDI:: NC_000013.11:106530071:AG:
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000132/2 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000013.11:g.106530072_106530073del, NC_000013.10:g.107182420_107182421del, XM_017020406.3:c.-11125_-11124del

Select item 149077723810.

rs1490777238 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:106489540 (GRCh38)
13:107141888 (GRCh37)
Canonical SPDI:: NC_000013.11:106489539:A:G
Gene:: EFNB2 (Varview), LOC124903247 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.106489540A>G, NC_000013.10:g.107141888A>G, XR_007063940.1:n.437A>G

Select item 149074943611.

rs1490749436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:106503907 (GRCh38)
13:107156255 (GRCh37)
Canonical SPDI:: NC_000013.11:106503906:A:G
Gene:: EFNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.106503907A>G, NC_000013.10:g.107156255A>G

Select item 149072577312.

rs1490725773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:106490536 (GRCh38)
13:107142884 (GRCh37)
Canonical SPDI:: NC_000013.11:106490535:T:C
Gene:: EFNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.106490536T>C, NC_000013.10:g.107142884T>C, NM_004093.4:c.*2504A>G, NM_004093.3:c.*2504A>G, XM_017020406.3:c.*2504A>G, XM_017020406.2:c.*2504A>G, XM_017020406.1:c.*2504A>G, NM_001372056.1:c.*2504A>G, NM_001372057.1:c.*2504A>G

Select item 149071449413.

rs1490714494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:106532368 (GRCh38)
13:107184716 (GRCh37)
Canonical SPDI:: NC_000013.11:106532367:T:C
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000013.11:g.106532368T>C, NC_000013.10:g.107184716T>C

Select item 149069932414.

rs1490699324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:106504952 (GRCh38)
13:107157300 (GRCh37)
Canonical SPDI:: NC_000013.11:106504951:G:A,NC_000013.11:106504951:G:T
Gene:: EFNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.106504952G>A, NC_000013.11:g.106504952G>T, NC_000013.10:g.107157300G>A, NC_000013.10:g.107157300G>T

Select item 149058749615.

rs1490587496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:106503442 (GRCh38)
13:107155790 (GRCh37)
Canonical SPDI:: NC_000013.11:106503441:T:A
Gene:: EFNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000013.11:g.106503442T>A, NC_000013.10:g.107155790T>A

Select item 149055556316.

rs1490555563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:106514712 (GRCh38)
13:107167060 (GRCh37)
Canonical SPDI:: NC_000013.11:106514711:C:A,NC_000013.11:106514711:C:T
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000013.11:g.106514712C>A, NC_000013.11:g.106514712C>T, NC_000013.10:g.107167060C>A, NC_000013.10:g.107167060C>T

Select item 149050215617.

rs1490502156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:106529068 (GRCh38)
13:107181416 (GRCh37)
Canonical SPDI:: NC_000013.11:106529067:C:G
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.106529068C>G, NC_000013.10:g.107181416C>G, XM_017020406.3:c.-10120G>C

Select item 149042295118.

rs1490422951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:106513234 (GRCh38)
13:107165582 (GRCh37)
Canonical SPDI:: NC_000013.11:106513233:A:G
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.106513234A>G, NC_000013.10:g.107165582A>G

Select item 149033694019.

rs1490336940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:106529589 (GRCh38)
13:107181937 (GRCh37)
Canonical SPDI:: NC_000013.11:106529588:G:A
Gene:: EFNB2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.106529589G>A, NC_000013.10:g.107181937G>A, XM_017020406.3:c.-10641C>T

Select item 149032453620.

rs1490324536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:106496630 (GRCh38)
13:107148978 (GRCh37)
Canonical SPDI:: NC_000013.11:106496629:G:T
Gene:: EFNB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.106496630G>T, NC_000013.10:g.107148978G>T

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