SNP Links for Gene (Select 107986539) - SNP

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Items: 1 to 20 of 5862

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Select item 14914802831.

rs1491480283 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:55961852 (GRCh38)
6:55826650 (GRCh37)
Canonical SPDI:: NC_000006.12:55961851:CA:
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000006.12:g.55961852_55961853del, NC_000006.11:g.55826650_55826651del

Select item 14912366752.

rs1491236675 has merged into rs66536855 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 6:55962567 (GRCh38)
6:55827365 (GRCh37)
Canonical SPDI:: NC_000006.12:55962555:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:55962555:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:55962555:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:55962555:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:55962555:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00014/2 (TOMMO)
-=0.025/1 (GENOME_DK)
-=0.05579/215 (ALSPAC)
-=0.06041/224 (TWINSUK)
HGVS:: NC_000006.12:g.55962567_55962568del, NC_000006.12:g.55962568del, NC_000006.12:g.55962568dup, NC_000006.12:g.55962567_55962568dup, NC_000006.12:g.55962566_55962568dup, NC_000006.11:g.55827365_55827366del, NC_000006.11:g.55827366del, NC_000006.11:g.55827366dup, NC_000006.11:g.55827365_55827366dup, NC_000006.11:g.55827364_55827366dup

Select item 14910945603.

rs1491094560 has merged into rs869252003 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:55982911 (GRCh38)
6:55847709 (GRCh37)
Canonical SPDI:: NC_000006.12:55982910:AT:
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00007/2 (TOMMO)
HGVS:: NC_000006.12:g.55982911_55982912del, NC_000006.11:g.55847709_55847710del

Select item 14910521664.

rs1491052166 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:55962657 (GRCh38)
6:55827455 (GRCh37)
Canonical SPDI:: NC_000006.12:55962655:TGT:T
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000031/4 (GnomAD)
HGVS:: NC_000006.12:g.55962657_55962658del, NC_000006.11:g.55827455_55827456del

Select item 14909712275.

rs1490971227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55984451 (GRCh38)
6:55849249 (GRCh37)
Canonical SPDI:: NC_000006.12:55984450:A:G
Gene:: LOC107986539 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000006.12:g.55984451A>G, NC_000006.11:g.55849249A>G

Select item 14909580396.

rs1490958039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:55968130 (GRCh38)
6:55832928 (GRCh37)
Canonical SPDI:: NC_000006.12:55968129:T:G
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55968130T>G, NC_000006.11:g.55832928T>G

Select item 14908917767.

rs1490891776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55967122 (GRCh38)
6:55831920 (GRCh37)
Canonical SPDI:: NC_000006.12:55967121:A:G
Gene:: LOC107986539 (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_000006.12:g.55967122A>G, NC_000006.11:g.55831920A>G

Select item 14905386838.

rs1490538683 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14904784639.

rs1490478463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:55972384 (GRCh38)
6:55837182 (GRCh37)
Canonical SPDI:: NC_000006.12:55972383:G:C
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.55972384G>C, NC_000006.11:g.55837182G>C

Select item 149042567310.

rs1490425673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:55976677 (GRCh38)
6:55841475 (GRCh37)
Canonical SPDI:: NC_000006.12:55976676:G:A,NC_000006.12:55976676:G:T
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55976677G>A, NC_000006.12:g.55976677G>T, NC_000006.11:g.55841475G>A, NC_000006.11:g.55841475G>T

Select item 149035935411.

rs1490359354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55975704 (GRCh38)
6:55840502 (GRCh37)
Canonical SPDI:: NC_000006.12:55975703:G:A
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00034/1 (KOREAN)
HGVS:: NC_000006.12:g.55975704G>A, NC_000006.11:g.55840502G>A

Select item 149012189812.

rs1490121898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:55984067 (GRCh38)
6:55848865 (GRCh37)
Canonical SPDI:: NC_000006.12:55984066:T:A,NC_000006.12:55984066:T:C
Gene:: LOC107986539 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.55984067T>A, NC_000006.12:g.55984067T>C, NC_000006.11:g.55848865T>A, NC_000006.11:g.55848865T>C, XR_001743880.1:n.408T>A, XR_001743880.1:n.408T>C

Select item 149002353813.

rs1490023538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:55971877 (GRCh38)
6:55836675 (GRCh37)
Canonical SPDI:: NC_000006.12:55971876:A:C
Gene:: LOC107986539 (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_000006.12:g.55971877A>C, NC_000006.11:g.55836675A>C

Select item 148997874214.

rs1489978742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55967234 (GRCh38)
6:55832032 (GRCh37)
Canonical SPDI:: NC_000006.12:55967233:A:G
Gene:: LOC107986539 (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_000006.12:g.55967234A>G, NC_000006.11:g.55832032A>G

Select item 148997316415.

rs1489973164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55982183 (GRCh38)
6:55846981 (GRCh37)
Canonical SPDI:: NC_000006.12:55982182:A:G
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55982183A>G, NC_000006.11:g.55846981A>G

Select item 148995805916.

rs1489958059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:55983517 (GRCh38)
6:55848315 (GRCh37)
Canonical SPDI:: NC_000006.12:55983516:G:C
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.55983517G>C, NC_000006.11:g.55848315G>C

Select item 148994116317.

rs1489941163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:55961735 (GRCh38)
6:55826533 (GRCh37)
Canonical SPDI:: NC_000006.12:55961734:C:A
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.55961735C>A, NC_000006.11:g.55826533C>A

Select item 148964718618.

rs1489647186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:55984564 (GRCh38)
6:55849362 (GRCh37)
Canonical SPDI:: NC_000006.12:55984563:T:A
Gene:: LOC107986539 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000006.12:g.55984564T>A, NC_000006.11:g.55849362T>A

Select item 148944921219.

rs1489449212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55957051 (GRCh38)
6:55821849 (GRCh37)
Canonical SPDI:: NC_000006.12:55957050:T:C
Gene:: LOC107986539 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.55957051T>C, NC_000006.11:g.55821849T>C

Select item 148927415620.

rs1489274156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55973279 (GRCh38)
6:55838077 (GRCh37)
Canonical SPDI:: NC_000006.12:55973278:G:A
Gene:: LOC107986539 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.55973279G>A, NC_000006.11:g.55838077G>A

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