SNP Links for Gene (Select 100289473) - SNP

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Select item 14915254921.

rs1491525492 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:1781741 (GRCh38)
20:1762388 (GRCh37)
Canonical SPDI:: NC_000020.11:1781741::C
Gene:: LOC100289473 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.1781741_1781742insC, NC_000020.10:g.1762387_1762388insC

Select item 14913638832.

rs1491363883 has merged into rs1000489707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 20:1781747 (GRCh38)
20:1762393 (GRCh37)
Canonical SPDI:: NC_000020.11:1781740:TTTTTTTT:TTTTTT,NC_000020.11:1781740:TTTTTTTT:TTTTTTT,NC_000020.11:1781740:TTTTTTTT:TTTTTTTTT,NC_000020.11:1781740:TTTTTTTT:TTTTTTTTTT
Gene:: LOC100289473 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0./0 (Korea1K)
-=0.00006/16 (TOPMED)
HGVS:: NC_000020.11:g.1781747_1781748del, NC_000020.11:g.1781748del, NC_000020.11:g.1781748dup, NC_000020.11:g.1781747_1781748dup, NC_000020.10:g.1762393_1762394del, NC_000020.10:g.1762394del, NC_000020.10:g.1762394dup, NC_000020.10:g.1762393_1762394dup

Select item 14907859893.

rs1490785989 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAAGGGGAG>- [Show Flanks]
Chromosome:: 20:1778308 (GRCh38)
20:1758954 (GRCh37)
Canonical SPDI:: NC_000020.11:1778305:AGGGAAGGGGAG:AG
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000020.11:g.1778308_1778317del, NC_000020.10:g.1758954_1758963del

Select item 14907471454.

rs1490747145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:1776558 (GRCh38)
20:1757204 (GRCh37)
Canonical SPDI:: NC_000020.11:1776557:A:T
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.1776558A>T, NC_000020.10:g.1757204A>T

Select item 14902939745.

rs1490293974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1778784 (GRCh38)
20:1759430 (GRCh37)
Canonical SPDI:: NC_000020.11:1778783:C:T
Gene:: LOC100289473 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000020.11:g.1778784C>T, NC_000020.10:g.1759430C>T, NR_037142.1:n.150G>A

Select item 14902733836.

rs1490273383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:1777509 (GRCh38)
20:1758155 (GRCh37)
Canonical SPDI:: NC_000020.11:1777508:C:A,NC_000020.11:1777508:C:T
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00025/4 (TOMMO)
A=0.00164/3 (Korea1K)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.1777509C>A, NC_000020.11:g.1777509C>T, NC_000020.10:g.1758155C>A, NC_000020.10:g.1758155C>T

Select item 14902707847.

rs1490270784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1779928 (GRCh38)
20:1760574 (GRCh37)
Canonical SPDI:: NC_000020.11:1779927:G:A
Gene:: LOC100289473 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.1779928G>A, NC_000020.10:g.1760574G>A

Select item 14898305798.

rs1489830579 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1781545 (GRCh38)
20:1762191 (GRCh37)
Canonical SPDI:: NC_000020.11:1781544:G:A
Gene:: LOC100289473 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.1781545G>A, NC_000020.10:g.1762191G>A

Select item 14898145639.

rs1489814563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1776827 (GRCh38)
20:1757473 (GRCh37)
Canonical SPDI:: NC_000020.11:1776826:C:T
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.1776827C>T, NC_000020.10:g.1757473C>T

Select item 148930128910.

rs1489301289 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:1776441 (GRCh38)
20:1757087 (GRCh37)
Canonical SPDI:: NC_000020.11:1776439:ACA:A
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.1776441_1776442del, NC_000020.10:g.1757087_1757088del

Select item 148881910511.

rs1488819105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:1781659 (GRCh38)
20:1762305 (GRCh37)
Canonical SPDI:: NC_000020.11:1781658:G:A
Gene:: LOC100289473 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000076/20 (TOPMED)
A=0.000107/15 (GnomAD)
HGVS:: NC_000020.11:g.1781659G>A, NC_000020.10:g.1762305G>A

Select item 148881108712.

rs1488811087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:1775999 (GRCh38)
20:1756645 (GRCh37)
Canonical SPDI:: NC_000020.11:1775998:C:T
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
T=0.00055/1 (Korea1K)
HGVS:: NC_000020.11:g.1775999C>T, NC_000020.10:g.1756645C>T

Select item 148850341013.

rs1488503410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:1777445 (GRCh38)
20:1758091 (GRCh37)
Canonical SPDI:: NC_000020.11:1777444:A:G
Gene:: LOC100289473 (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_000020.11:g.1777445A>G, NC_000020.10:g.1758091A>G

Select item 148847505114.

rs1488475051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:1781138 (GRCh38)
20:1761784 (GRCh37)
Canonical SPDI:: NC_000020.11:1781137:A:C
Gene:: LOC100289473 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.1781138A>C, NC_000020.10:g.1761784A>C

Select item 148845669015.

rs1488456690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:1781006 (GRCh38)
20:1761652 (GRCh37)
Canonical SPDI:: NC_000020.11:1781005:T:C
Gene:: LOC100289473 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.1781006T>C, NC_000020.10:g.1761652T>C

Select item 148820028216.

rs1488200282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:1777065 (GRCh38)
20:1757711 (GRCh37)
Canonical SPDI:: NC_000020.11:1777064:C:G
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.1777065C>G, NC_000020.10:g.1757711C>G

Select item 148751963917.

rs1487519639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:1777885 (GRCh38)
20:1758531 (GRCh37)
Canonical SPDI:: NC_000020.11:1777884:T:A
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.1777885T>A, NC_000020.10:g.1758531T>A

Select item 148744469918.

rs1487444699 [Homo sapiens]

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

Select item 148705280519.

rs1487052805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:1778002 (GRCh38)
20:1758648 (GRCh37)
Canonical SPDI:: NC_000020.11:1778001:G:A,NC_000020.11:1778001:G:C
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.1778002G>A, NC_000020.11:g.1778002G>C, NC_000020.10:g.1758648G>A, NC_000020.10:g.1758648G>C

Select item 148698334520.

rs1486983345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:1779415 (GRCh38)
20:1760061 (GRCh37)
Canonical SPDI:: NC_000020.11:1779414:G:C
Gene:: LOC100289473 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00011/2 (TOMMO)
HGVS:: NC_000020.11:g.1779415G>C, NC_000020.10:g.1760061G>C

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