SNP Links for Gene (Select 105372899) - SNP

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Select item 14910653981.

rs1491065398 has merged into rs3057549 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:209569110 (GRCh38)
1:209742455 (GRCh37)
Canonical SPDI:: NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:209569099:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC105372899 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1641/822 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000001.11:g.209569110_209569117del, NC_000001.11:g.209569112_209569117del, NC_000001.11:g.209569113_209569117del, NC_000001.11:g.209569115_209569117del, NC_000001.11:g.209569116_209569117del, NC_000001.11:g.209569117del, NC_000001.11:g.209569117dup, NC_000001.11:g.209569116_209569117dup, NC_000001.11:g.209569115_209569117dup, NC_000001.11:g.209569114_209569117dup, NC_000001.11:g.209569113_209569117dup, NC_000001.11:g.209569112_209569117dup, NC_000001.11:g.209569111_209569117dup, NC_000001.10:g.209742455_209742462del, NC_000001.10:g.209742457_209742462del, NC_000001.10:g.209742458_209742462del, NC_000001.10:g.209742460_209742462del, NC_000001.10:g.209742461_209742462del, NC_000001.10:g.209742462del, NC_000001.10:g.209742462dup, NC_000001.10:g.209742461_209742462dup, NC_000001.10:g.209742460_209742462dup, NC_000001.10:g.209742459_209742462dup, NC_000001.10:g.209742458_209742462dup, NC_000001.10:g.209742457_209742462dup, NC_000001.10:g.209742456_209742462dup

Select item 14891596282.

rs1489159628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209569321 (GRCh38)
1:209742666 (GRCh37)
Canonical SPDI:: NC_000001.11:209569320:A:G
Gene:: LOC105372899 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209569321A>G, NC_000001.10:g.209742666A>G

Select item 14881466783.

rs1488146678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209569052 (GRCh38)
1:209742397 (GRCh37)
Canonical SPDI:: NC_000001.11:209569051:C:T
Gene:: LOC105372899 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209569052C>T, NC_000001.10:g.209742397C>T

Select item 14877232024.

rs1487723202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209569735 (GRCh38)
1:209743080 (GRCh37)
Canonical SPDI:: NC_000001.11:209569734:C:T
Gene:: LOC105372899 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.209569735C>T, NC_000001.10:g.209743080C>T

Select item 14871644145.

rs1487164414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209568516 (GRCh38)
1:209741861 (GRCh37)
Canonical SPDI:: NC_000001.11:209568515:A:G
Gene:: LOC105372899 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.209568516A>G, NC_000001.10:g.209741861A>G

Select item 14863086336.

rs1486308633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209568405 (GRCh38)
1:209741750 (GRCh37)
Canonical SPDI:: NC_000001.11:209568404:G:A
Gene:: LOC105372899 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.209568405G>A, NC_000001.10:g.209741750G>A

Select item 14851034637.

rs1485103463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209568337 (GRCh38)
1:209741682 (GRCh37)
Canonical SPDI:: NC_000001.11:209568336:C:T
Gene:: LOC105372899 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209568337C>T, NC_000001.10:g.209741682C>T

Select item 14847771658.

rs1484777165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:209567106 (GRCh38)
1:209740451 (GRCh37)
Canonical SPDI:: NC_000001.11:209567105:A:C,NC_000001.11:209567105:A:G
Gene:: LOC105372899 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.209567106A>C, NC_000001.11:g.209567106A>G, NC_000001.10:g.209740451A>C, NC_000001.10:g.209740451A>G

Select item 14844235709.

rs1484423570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:209568374 (GRCh38)
1:209741719 (GRCh37)
Canonical SPDI:: NC_000001.11:209568373:T:A
Gene:: LOC105372899 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209568374T>A, NC_000001.10:g.209741719T>A

Select item 148434911910.

rs1484349119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209567401 (GRCh38)
1:209740746 (GRCh37)
Canonical SPDI:: NC_000001.11:209567400:C:T
Gene:: LOC105372899 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.209567401C>T, NC_000001.10:g.209740746C>T

Select item 148421497111.

rs1484214971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209566994 (GRCh38)
1:209740339 (GRCh37)
Canonical SPDI:: NC_000001.11:209566993:A:G
Gene:: LOC105372899 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209566994A>G, NC_000001.10:g.209740339A>G

Select item 148407268212.

rs1484072682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209566868 (GRCh38)
1:209740213 (GRCh37)
Canonical SPDI:: NC_000001.11:209566867:C:T
Gene:: LOC105372899 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000049/13 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.209566868C>T, NC_000001.10:g.209740213C>T

Select item 148288142413.

rs1482881424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209568544 (GRCh38)
1:209741889 (GRCh37)
Canonical SPDI:: NC_000001.11:209568543:A:G
Gene:: LOC105372899 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.209568544A>G, NC_000001.10:g.209741889A>G

Select item 148094067814.

rs1480940678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:209568665 (GRCh38)
1:209742010 (GRCh37)
Canonical SPDI:: NC_000001.11:209568664:T:A
Gene:: LOC105372899 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.209568665T>A, NC_000001.10:g.209742010T>A

Select item 148090982515.

rs1480909825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209567561 (GRCh38)
1:209740906 (GRCh37)
Canonical SPDI:: NC_000001.11:209567560:G:A
Gene:: LOC105372899 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.209567561G>A, NC_000001.10:g.209740906G>A, XR_922537.2:n.178C>T, XR_922537.1:n.157C>T

Select item 147885665716.

rs1478856657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:209566725 (GRCh38)
1:209740070 (GRCh37)
Canonical SPDI:: NC_000001.11:209566724:C:A
Gene:: LOC105372899 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209566725C>A, NC_000001.10:g.209740070C>A

Select item 147829332217.

rs1478293322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:209569419 (GRCh38)
1:209742764 (GRCh37)
Canonical SPDI:: NC_000001.11:209569418:T:G
Gene:: LOC105372899 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.209569419T>G, NC_000001.10:g.209742764T>G

Select item 147772389518.

rs1477723895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:209568686 (GRCh38)
1:209742031 (GRCh37)
Canonical SPDI:: NC_000001.11:209568685:C:A,NC_000001.11:209568685:C:T
Gene:: LOC105372899 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.209568686C>A, NC_000001.11:g.209568686C>T, NC_000001.10:g.209742031C>A, NC_000001.10:g.209742031C>T

Select item 147686548119.

rs1476865481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209567621 (GRCh38)
1:209740966 (GRCh37)
Canonical SPDI:: NC_000001.11:209567620:T:C
Gene:: LOC105372899 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000001.11:g.209567621T>C, NC_000001.10:g.209740966T>C, XR_922537.2:n.118A>G, XR_922537.1:n.97A>G

Select item 147676024320.

rs1476760243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:209569046 (GRCh38)
1:209742391 (GRCh37)
Canonical SPDI:: NC_000001.11:209569045:T:G
Gene:: LOC105372899 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000001.11:g.209569046T>G, NC_000001.10:g.209742391T>G

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