SNP Links for Gene (Select 80094) - SNP

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Links from Gene

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Select item 14908787561.

rs1490878756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22643824 (GRCh38)
8:22501337 (GRCh37)
Canonical SPDI:: NC_000008.11:22643823:C:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000008.11:g.22643824C>T, NC_000008.10:g.22501337C>T

Select item 14869243802.

rs1486924380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:22640774 (GRCh38)
8:22498287 (GRCh37)
Canonical SPDI:: NC_000008.11:22640773:G:A,NC_000008.11:22640773:G:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22640774G>A, NC_000008.11:g.22640774G>T, NC_000008.10:g.22498287G>A, NC_000008.10:g.22498287G>T, NR_027715.1:n.1436C>T, NR_027715.1:n.1436C>A, NM_025026.1:c.*516C>T, NM_025026.1:c.*516C>A

Select item 14866010373.

rs1486601037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:22643441 (GRCh38)
8:22500954 (GRCh37)
Canonical SPDI:: NC_000008.11:22643440:C:G
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22643441C>G, NC_000008.10:g.22500954C>G

Select item 14864389254.

rs1486438925 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:22642921 (GRCh38)
8:22500434 (GRCh37)
Canonical SPDI:: NC_000008.11:22642920:CT:
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.22642921_22642922del, NC_000008.10:g.22500434_22500435del

Select item 14863031255.

rs1486303125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22640752 (GRCh38)
8:22498265 (GRCh37)
Canonical SPDI:: NC_000008.11:22640751:C:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22640752C>T, NC_000008.10:g.22498265C>T, NR_027715.1:n.1458G>A, NM_025026.1:c.*538G>A

Select item 14857848646.

rs1485784864 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:22641714 (GRCh38)
8:22499227 (GRCh37)
Canonical SPDI:: NC_000008.11:22641709:CTCTCT:CTCT
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000447/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.22641710CT[2], NC_000008.10:g.22499223CT[2], NR_027715.1:n.495AG[2], NM_025026.1:c.-15AG[2]

Select item 14856980167.

rs1485698016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22643268 (GRCh38)
8:22500781 (GRCh37)
Canonical SPDI:: NC_000008.11:22643267:A:C
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000008.11:g.22643268A>C, NC_000008.10:g.22500781A>C

Select item 14855174258.

rs1485517425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:22640333 (GRCh38)
8:22497846 (GRCh37)
Canonical SPDI:: NC_000008.11:22640332:C:A,NC_000008.11:22640332:C:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,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_000008.11:g.22640333C>A, NC_000008.11:g.22640333C>T, NC_000008.10:g.22497846C>A, NC_000008.10:g.22497846C>T

Select item 14846693659.

rs1484669365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22641094 (GRCh38)
8:22498607 (GRCh37)
Canonical SPDI:: NC_000008.11:22641093:T:C
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22641094T>C, NC_000008.10:g.22498607T>C, NR_027715.1:n.1116A>G, NM_025026.1:c.*196A>G

Select item 148396610510.

rs1483966105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:22641787 (GRCh38)
8:22499300 (GRCh37)
Canonical SPDI:: NC_000008.11:22641786:C:A,NC_000008.11:22641786:C:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.22641787C>A, NC_000008.11:g.22641787C>T, NC_000008.10:g.22499300C>A, NC_000008.10:g.22499300C>T, NR_027715.1:n.423G>T, NR_027715.1:n.423G>A, NM_025026.1:c.-87G>T, NM_025026.1:c.-87G>A

Select item 148378953611.

rs1483789536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22642643 (GRCh38)
8:22500156 (GRCh37)
Canonical SPDI:: NC_000008.11:22642642:T:C
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22642643T>C, NC_000008.10:g.22500156T>C

Select item 148365664312.

rs1483656643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22641502 (GRCh38)
8:22499015 (GRCh37)
Canonical SPDI:: NC_000008.11:22641501:C:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,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_000008.11:g.22641502C>T, NC_000008.10:g.22499015C>T, NR_027715.1:n.708G>A, NM_025026.1:c.199G>A

Select item 148354303113.

rs1483543031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:22639907 (GRCh38)
8:22497420 (GRCh37)
Canonical SPDI:: NC_000008.11:22639906:G:C,NC_000008.11:22639906:G:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000076/20 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.000248/4 (TOMMO)
HGVS:: NC_000008.11:g.22639907G>C, NC_000008.11:g.22639907G>T, NC_000008.10:g.22497420G>C, NC_000008.10:g.22497420G>T

Select item 148332738614.

rs1483327386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:22641472 (GRCh38)
8:22498985 (GRCh37)
Canonical SPDI:: NC_000008.11:22641471:G:C
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22641472G>C, NC_000008.10:g.22498985G>C, NR_027715.1:n.738C>G, NM_025026.1:c.229C>G

Select item 148215238415.

rs1482152384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:22643057 (GRCh38)
8:22500570 (GRCh37)
Canonical SPDI:: NC_000008.11:22643056:G:C,NC_000008.11:22643056:G:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22643057G>C, NC_000008.11:g.22643057G>T, NC_000008.10:g.22500570G>C, NC_000008.10:g.22500570G>T

Select item 148159648916.

rs1481596489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:22643043 (GRCh38)
8:22500556 (GRCh37)
Canonical SPDI:: NC_000008.11:22643042:T:G
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22643043T>G, NC_000008.10:g.22500556T>G

Select item 148070672617.

rs1480706726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22643482 (GRCh38)
8:22500995 (GRCh37)
Canonical SPDI:: NC_000008.11:22643481:A:G
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.22643482A>G, NC_000008.10:g.22500995A>G

Select item 148061518818.

rs1480615188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:22642618 (GRCh38)
8:22500131 (GRCh37)
Canonical SPDI:: NC_000008.11:22642617:C:A
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.22642618C>A, NC_000008.10:g.22500131C>A

Select item 148036820519.

rs1480368205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:22640371 (GRCh38)
8:22497884 (GRCh37)
Canonical SPDI:: NC_000008.11:22640370:G:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00142/23 (ALFA)
T=0.00415/18 (Estonian)
T=0.0439/128 (KOREAN)
HGVS:: NC_000008.11:g.22640371G>T, NC_000008.10:g.22497884G>T, NR_027715.1:n.1839C>A, NM_025026.1:c.*919C>A

Select item 148027746120.

rs1480277461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22641264 (GRCh38)
8:22498777 (GRCh37)
Canonical SPDI:: NC_000008.11:22641263:C:T
Gene:: BIN3 (Varview), BIN3-IT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.22641264C>T, NC_000008.10:g.22498777C>T, NR_027715.1:n.946G>A, NM_025026.1:c.*26G>A