SNP Links for Gene (Select 100126340) - SNP

Links from Gene

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Select item 14889044121.

rs1488904412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:189828068 (GRCh38)
3:189545857 (GRCh37)
Canonical SPDI:: NC_000003.12:189828067:C:G
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,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)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000003.12:g.189828068C>G, NC_000003.11:g.189545857C>G, NG_007550.3:g.236323C>G

Select item 14882658772.

rs1488265877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:189830282 (GRCh38)
3:189548071 (GRCh37)
Canonical SPDI:: NC_000003.12:189830281:T:C
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.189830282T>C, NC_000003.11:g.189548071T>C, NG_007550.3:g.238537T>C

Select item 14876250483.

rs1487625048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:189829479 (GRCh38)
3:189547268 (GRCh37)
Canonical SPDI:: NC_000003.12:189829478:G:A
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.189829479G>A, NC_000003.11:g.189547268G>A, NG_007550.3:g.237734G>A

Select item 14854398344.

rs1485439834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:189828829 (GRCh38)
3:189546618 (GRCh37)
Canonical SPDI:: NC_000003.12:189828828:C:G,NC_000003.12:189828828:C:T
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.189828829C>G, NC_000003.12:g.189828829C>T, NC_000003.11:g.189546618C>G, NC_000003.11:g.189546618C>T, NG_007550.3:g.237084C>G, NG_007550.3:g.237084C>T

Select item 14825988985.

rs1482598898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:189829883 (GRCh38)
3:189547672 (GRCh37)
Canonical SPDI:: NC_000003.12:189829882:C:T
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.189829883C>T, NC_000003.11:g.189547672C>T, NG_007550.3:g.238138C>T

Select item 14824206426.

rs1482420642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:189830094 (GRCh38)
3:189547883 (GRCh37)
Canonical SPDI:: NC_000003.12:189830093:G:A
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_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_000003.12:g.189830094G>A, NC_000003.11:g.189547883G>A, NG_007550.3:g.238349G>A

Select item 14820196917.

rs1482019691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:189828113 (GRCh38)
3:189545902 (GRCh37)
Canonical SPDI:: NC_000003.12:189828112:C:T
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000049/13 (TOPMED)
T=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.189828113C>T, NC_000003.11:g.189545902C>T, NG_007550.3:g.236368C>T

Select item 14804437598.

rs1480443759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:189830077 (GRCh38)
3:189547866 (GRCh37)
Canonical SPDI:: NC_000003.12:189830076:T:C
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.189830077T>C, NC_000003.11:g.189547866T>C, NG_007550.3:g.238332T>C

Select item 14780421779.

rs1478042177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:189829072 (GRCh38)
3:189546861 (GRCh37)
Canonical SPDI:: NC_000003.12:189829071:T:A
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.189829072T>A, NC_000003.11:g.189546861T>A, NG_007550.3:g.237327T>A

Select item 147738529210.

rs1477385292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTAGTAGGTCATTTAGTAGGTCATTAGAA [Show Flanks]
Chromosome:: 3:189830063 (GRCh38)
3:189547853 (GRCh37)
Canonical SPDI:: NC_000003.12:189830063:AA:AATTTAGTAGGTCATTTAGTAGGTCATTAGAA
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AATTTAGTAGGTCATTTAGTAGGTCATTAGAA=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.189830065_189830066insTTTAGTAGGTCATTTAGTAGGTCATTAGAA, NC_000003.11:g.189547854_189547855insTTTAGTAGGTCATTTAGTAGGTCATTAGAA, NG_007550.3:g.238320_238321insTTTAGTAGGTCATTTAGTAGGTCATTAGAA

Select item 147510326611.

rs1475103266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:189828478 (GRCh38)
3:189546267 (GRCh37)
Canonical SPDI:: NC_000003.12:189828477:A:C
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.189828478A>C, NC_000003.11:g.189546267A>C, NG_007550.3:g.236733A>C

Select item 147477833812.

rs1474778338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:189828043 (GRCh38)
3:189545832 (GRCh37)
Canonical SPDI:: NC_000003.12:189828042:C:T
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.189828043C>T, NC_000003.11:g.189545832C>T, NG_007550.3:g.236298C>T

Select item 147377139013.

rs1473771390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:189829184 (GRCh38)
3:189546973 (GRCh37)
Canonical SPDI:: NC_000003.12:189829183:T:C
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.189829184T>C, NC_000003.11:g.189546973T>C, NG_007550.3:g.237439T>C

Select item 146859909914.

rs1468599099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189828223 (GRCh38)
3:189546012 (GRCh37)
Canonical SPDI:: NC_000003.12:189828222:A:G
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.189828223A>G, NC_000003.11:g.189546012A>G, NG_007550.3:g.236478A>G

Select item 146576297815.

rs1465762978 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGCTGG>- [Show Flanks]
Chromosome:: 3:189829180 (GRCh38)
3:189546969 (GRCh37)
Canonical SPDI:: NC_000003.12:189829178:GGAGCTGG:G
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.189829180_189829186del, NC_000003.11:g.189546969_189546975del, NG_007550.3:g.237435_237441del

Select item 146506130716.

rs1465061307 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:189829440 (GRCh38)
3:189547230 (GRCh37)
Canonical SPDI:: NC_000003.12:189829440:G:GG
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.189829441dup, NC_000003.11:g.189547230dup, NG_007550.3:g.237696dup

Select item 146471781917.

rs1464717819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:189830152 (GRCh38)
3:189547941 (GRCh37)
Canonical SPDI:: NC_000003.12:189830151:G:A
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.189830152G>A, NC_000003.11:g.189547941G>A, NG_007550.3:g.238407G>A

Select item 146421339818.

rs1464213398 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:189829701 (GRCh38)
3:189547491 (GRCh37)
Canonical SPDI:: NC_000003.12:189829701:AAAAA:AAAAAA
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.189829706dup, NC_000003.11:g.189547495dup, NG_007550.3:g.237961dup

Select item 146417259719.

rs1464172597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:189828576 (GRCh38)
3:189546365 (GRCh37)
Canonical SPDI:: NC_000003.12:189828575:C:T
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.189828576C>T, NC_000003.11:g.189546365C>T, NG_007550.3:g.236831C>T

Select item 146326968120.

rs1463269681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:189829831 (GRCh38)
3:189547620 (GRCh37)
Canonical SPDI:: NC_000003.12:189829830:A:G
Gene:: TP63 (Varview), MIR944 (Varview)
Functional Consequence:: intron_variant,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_000003.12:g.189829831A>G, NC_000003.11:g.189547620A>G, NG_007550.3:g.238086A>G

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