SNP Links for Gene (Select 126259) - SNP

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Select item 14911349641.

rs1491134964 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 19:4293576 (GRCh38)
19:4293573 (GRCh37)
Canonical SPDI:: NC_000019.10:4293575:TA:
Gene:: TMIGD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4293576_4293577del, NC_000019.9:g.4293573_4293574del

Select item 14908779832.

rs1490877983 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAAT>- [Show Flanks]
Chromosome:: 19:4302608 (GRCh38)
19:4302605 (GRCh37)
Canonical SPDI:: NC_000019.10:4302606:TGTAAT:T
Gene:: FSD1 (Varview), TMIGD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4302608_4302612del, NC_000019.9:g.4302605_4302609del

Select item 14903834853.

rs1490383485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4301797 (GRCh38)
19:4301794 (GRCh37)
Canonical SPDI:: NC_000019.10:4301796:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.4301797C>T, NC_000019.9:g.4301794C>T

Select item 14902112924.

rs1490211292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:4295260 (GRCh38)
19:4295257 (GRCh37)
Canonical SPDI:: NC_000019.10:4295259:C:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00396/47 (ALFA)
A=0.00118/86 (GnomAD)
A=0.00369/93 (TOMMO)
A=0.13258/385 (KOREAN)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.4295260C>A, NC_000019.9:g.4295257C>A

Select item 14901403085.

rs1490140308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4302030 (GRCh38)
19:4302027 (GRCh37)
Canonical SPDI:: NC_000019.10:4302029:T:C
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.4302030T>C, NC_000019.9:g.4302027T>C

Select item 14900745376.

rs1490074537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:4301105 (GRCh38)
19:4301102 (GRCh37)
Canonical SPDI:: NC_000019.10:4301104:T:C
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4301105T>C, NC_000019.9:g.4301102T>C

Select item 14898017817.

rs1489801781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4292201 (GRCh38)
19:4292198 (GRCh37)
Canonical SPDI:: NC_000019.10:4292200:A:G
Gene:: TMIGD2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.4292201A>G, NC_000019.9:g.4292198A>G

Select item 14893687648.

rs1489368764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4299297 (GRCh38)
19:4299294 (GRCh37)
Canonical SPDI:: NC_000019.10:4299296:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.4299297C>T, NC_000019.9:g.4299294C>T

Select item 14892925569.

rs1489292556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4296555 (GRCh38)
19:4296552 (GRCh37)
Canonical SPDI:: NC_000019.10:4296554:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4296555C>T, NC_000019.9:g.4296552C>T

Select item 148925482610.

rs1489254826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4297283 (GRCh38)
19:4297280 (GRCh37)
Canonical SPDI:: NC_000019.10:4297282:G:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.4297283G>A, NC_000019.9:g.4297280G>A

Select item 148912986811.

rs1489129868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4293020 (GRCh38)
19:4293017 (GRCh37)
Canonical SPDI:: NC_000019.10:4293019:G:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4293020G>A, NC_000019.9:g.4293017G>A

Select item 148910938312.

rs1489109383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:4294716 (GRCh38)
19:4294713 (GRCh37)
Canonical SPDI:: NC_000019.10:4294715:G:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.4294716G>T, NC_000019.9:g.4294713G>T

Select item 148909553613.

rs1489095536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:4302493 (GRCh38)
19:4302490 (GRCh37)
Canonical SPDI:: NC_000019.10:4302492:G:A
Gene:: TMIGD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.4302493G>A, NC_000019.9:g.4302490G>A

Select item 148900666314.

rs1489006663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4300148 (GRCh38)
19:4300145 (GRCh37)
Canonical SPDI:: NC_000019.10:4300147:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: 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_000019.10:g.4300148C>T, NC_000019.9:g.4300145C>T

Select item 148885355615.

rs1488853556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:4292696 (GRCh38)
19:4292693 (GRCh37)
Canonical SPDI:: NC_000019.10:4292695:C:T
Gene:: TMIGD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.4292696C>T, NC_000019.9:g.4292693C>T, NM_144615.3:c.752G>A, NM_144615.2:c.752G>A, NM_001169126.2:c.740G>A, NM_001169126.1:c.740G>A, NM_001308232.2:c.392G>A, NM_001308232.1:c.392G>A, NR_172632.1:n.880G>A, NR_172630.1:n.862G>A, NM_001395549.1:c.638G>A, NR_172631.1:n.538G>A, NP_653216.2:p.Arg251Lys, NP_001162597.1:p.Arg247Lys, NP_001295161.1:p.Arg131Lys, NP_001382478.1:p.Arg213Lys

Select item 148883248216.

rs1488832482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:4296690 (GRCh38)
19:4296687 (GRCh37)
Canonical SPDI:: NC_000019.10:4296689:C:G
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.4296690C>G, NC_000019.9:g.4296687C>G

Select item 148821545417.

rs1488215454 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAAA [Show Flanks]
Chromosome:: 19:4296402 (GRCh38)
19:4296400 (GRCh37)
Canonical SPDI:: NC_000019.10:4296402:TAAA:TAAATAAA
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAATAAA=0./0 (ALFA)
TAAA=0.000007/1 (GnomAD)
TAAA=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.4296403_4296406dup, NC_000019.9:g.4296400_4296403dup

Select item 148814257618.

rs1488142576 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 19:4300087 (GRCh38)
19:4300084 (GRCh37)
Canonical SPDI:: NC_000019.10:4300085:CCC:C
Gene:: TMIGD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
-=0.000058/8 (GnomAD)
-=0.000064/17 (TOPMED)
HGVS:: NC_000019.10:g.4300087_4300088del, NC_000019.9:g.4300084_4300085del

Select item 148760805319.

rs1487608053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:4304102 (GRCh38)
19:4304099 (GRCh37)
Canonical SPDI:: NC_000019.10:4304101:A:C
Gene:: FSD1 (Varview), TMIGD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00051/6 (ALFA)
C=0.00171/5 (KOREAN)
HGVS:: NC_000019.10:g.4304102A>C, NC_000019.9:g.4304099A>C

Select item 148756894220.

rs1487568942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:4303672 (GRCh38)
19:4303669 (GRCh37)
Canonical SPDI:: NC_000019.10:4303671:A:G
Gene:: FSD1 (Varview), TMIGD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.4303672A>G, NC_000019.9:g.4303669A>G

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