SNP Links for Gene (Select 285966) - SNP

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Select item 14915870641.

rs1491587064 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTCTTTCTTTCTTTCTTTCTTTCTTTCTT [Show Flanks]
Chromosome:: 7:143719443 (GRCh38)
7:143416537 (GRCh37)
Canonical SPDI:: NC_000007.14:143719443::GTCTTTCTTTCTTTCTTTCTTTCTTTCTT
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.143719443_143719444insGTCTTTCTTTCTTTCTTTCTTTCTTTCTT, NC_000007.13:g.143416536_143416537insGTCTTTCTTTCTTTCTTTCTTTCTTTCTT, NW_018654714.1:g.263763_263764insGTCTTTCTTTCTTTCTTTCTTTCTTTCTT

Select item 14914070292.

rs1491407029 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:143719443 (GRCh38)
7:143416536 (GRCh37)
Canonical SPDI:: NC_000007.14:143719442:CT:
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00492/22 (ALFA)
-=0.00216/36 (TOMMO)
-=0.00359/23 (1000Genomes)
-=0.00392/7 (Korea1K)
HGVS:: NC_000007.14:g.143719443_143719444del, NC_000007.13:g.143416536_143416537del, NW_018654714.1:g.263763_263764del

Select item 14909771083.

rs1490977108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143624931 (GRCh38)
7:143322024 (GRCh37)
Canonical SPDI:: NC_000007.14:143624930:A:G
Gene:: TCAF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.143624931A>G, NC_000007.13:g.143322024A>G

Select item 14909294304.

rs1490929430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:143620630 (GRCh38)
7:143317723 (GRCh37)
Canonical SPDI:: NC_000007.14:143620629:A:T
Gene:: TCAF2 (Varview), LOC101928466 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.143620630A>T, NC_000007.13:g.143317723A>T, NW_018654714.1:g.244111A>T, XR_242200.5:n.285T>A, XR_242200.4:n.283T>A, XR_242200.3:n.282T>A, XR_242200.2:n.290T>A, XR_242200.1:n.278T>A, XR_007069065.1:n.310T>A

Select item 14909035665.

rs1490903566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:143729853 (GRCh38)
7:143426946 (GRCh37)
Canonical SPDI:: NC_000007.14:143729852:T:A,NC_000007.14:143729852:T:C
Gene:: TCAF2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.143729853T>A, NC_000007.14:g.143729853T>C, NC_000007.13:g.143426946T>A, NC_000007.13:g.143426946T>C, NW_018654714.1:g.274172T>A, NW_018654714.1:g.274172T>C, NM_001130026.3:c.*2186T>A, NM_001130026.3:c.*2186T>C, NM_001130026.2:c.*2186T>A, NM_001130026.2:c.*2186T>C, NM_001363538.2:c.*2186T>A, NM_001363538.2:c.*2186T>C, NM_001363538.1:c.*2186T>A, NM_001363538.1:c.*2186T>C, XM_047420217.1:c.*2186T>A, XM_047420217.1:c.*2186T>C, XM_047420218.1:c.*2186T>A, XM_047420218.1:c.*2186T>C

Select item 14907871416.

rs1490787141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143650222 (GRCh38)
7:143347315 (GRCh37)
Canonical SPDI:: NC_000007.14:143650221:C:A
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.143650222C>A, NC_000007.13:g.143347315C>A

Select item 14907568197.

rs1490756819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143648691 (GRCh38)
7:143345784 (GRCh37)
Canonical SPDI:: NC_000007.14:143648690:T:C
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143648691T>C, NC_000007.13:g.143345784T>C

Select item 14905273948.

rs1490527394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143721472 (GRCh38)
7:143418565 (GRCh37)
Canonical SPDI:: NC_000007.14:143721471:C:T
Gene:: TCAF2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.143721472C>T, NC_000007.13:g.143418565C>T, NW_018654714.1:g.265793C>T

Select item 14904852699.

rs1490485269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143637742 (GRCh38)
7:143334835 (GRCh37)
Canonical SPDI:: NC_000007.14:143637741:C:A
Gene:: TCAF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.36655/4348 (ALFA)
C=0.06195/14 (SGDP_PRJ)
C=0.44458/1091 (KOREAN)
A=0.47134/6273 (TOMMO)
HGVS:: NC_000007.14:g.143637742C>A, NC_000007.13:g.143334835C>A

Select item 149032374310.

rs1490323743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:143731807 (GRCh38)
7:143428900 (GRCh37)
Canonical SPDI:: NC_000007.14:143731806:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.143731807A>T, NC_000007.13:g.143428900A>T, NW_018654714.1:g.276126A>T

Select item 149029512211.

rs1490295122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143649378 (GRCh38)
7:143346471 (GRCh37)
Canonical SPDI:: NC_000007.14:143649377:A:G
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
HGVS:: NC_000007.14:g.143649378A>G, NC_000007.13:g.143346471A>G

Select item 149026976312.

rs1490269763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143633213 (GRCh38)
7:143330306 (GRCh37)
Canonical SPDI:: NC_000007.14:143633212:G:A
Gene:: TCAF2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.143633213G>A, NC_000007.13:g.143330306G>A

Select item 149026465713.

rs1490264657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143648189 (GRCh38)
7:143345282 (GRCh37)
Canonical SPDI:: NC_000007.14:143648188:C:A
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.143648189C>A, NC_000007.13:g.143345282C>A

Select item 149008484414.

rs1490084844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143731134 (GRCh38)
7:143428227 (GRCh37)
Canonical SPDI:: NC_000007.14:143731133:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000007.14:g.143731134C>T, NC_000007.13:g.143428227C>T, NW_018654714.1:g.275453C>T

Select item 149007370415.

rs1490073704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143728417 (GRCh38)
7:143425510 (GRCh37)
Canonical SPDI:: NC_000007.14:143728416:G:A
Gene:: TCAF2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143728417G>A, NC_000007.13:g.143425510G>A, NW_018654714.1:g.272736G>A, NM_001130026.3:c.*750G>A, NM_001130026.2:c.*750G>A, NM_001363538.2:c.*750G>A, NM_001363538.1:c.*750G>A, XM_047420217.1:c.*750G>A, XM_047420218.1:c.*750G>A

Select item 149005565316.

rs1490055653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:143719640 (GRCh38)
7:143416733 (GRCh37)
Canonical SPDI:: NC_000007.14:143719639:C:G,NC_000007.14:143719639:C:T
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.143719640C>G, NC_000007.14:g.143719640C>T, NC_000007.13:g.143416733C>G, NC_000007.13:g.143416733C>T, NW_018654714.1:g.263960C>G, NW_018654714.1:g.263960C>T

Select item 148991053017.

rs1489910530 [Homo sapiens]

Variant type:: DEL
Alleles:: AAG>- [Show Flanks]
Chromosome:: 7:143729617 (GRCh38)
7:143426710 (GRCh37)
Canonical SPDI:: NC_000007.14:143729616:AAG:
Gene:: TCAF2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0016/7 (ALFA)
HGVS:: NC_000007.14:g.143729617_143729619del, NC_000007.13:g.143426710_143426712del, NW_018654714.1:g.273936_273938del, NM_001130026.3:c.*1950_*1952del, NM_001130026.2:c.*1950_*1952del, NM_001363538.2:c.*1950_*1952del, NM_001363538.1:c.*1950_*1952del, XM_047420217.1:c.*1950_*1952del, XM_047420218.1:c.*1950_*1952del

Select item 148985807718.

rs1489858077 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:143730071 (GRCh38)
7:143427164 (GRCh37)
Canonical SPDI:: NC_000007.14:143730070:T:
Gene:: TCAF2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.143730071del, NC_000007.13:g.143427164del, NW_018654714.1:g.274390del, NM_001130026.3:c.*2404del, NM_001130026.2:c.*2404del, NM_001363538.2:c.*2404del, NM_001363538.1:c.*2404del, XM_047420217.1:c.*2404del, XM_047420218.1:c.*2404del

Select item 148970075519.

rs1489700755 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:143718523 (GRCh38)
7:143415616 (GRCh37)
Canonical SPDI:: NC_000007.14:143718522:A:C
Gene:: TCAF2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143718523A>C, NC_000007.13:g.143415616A>C, NW_018654714.1:g.262811A>C

Select item 148969537620.

rs1489695376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143728874 (GRCh38)
7:143425967 (GRCh37)
Canonical SPDI:: NC_000007.14:143728873:C:T
Gene:: TCAF2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.143728874C>T, NC_000007.13:g.143425967C>T, NW_018654714.1:g.273193C>T, NM_001130026.3:c.*1207C>T, NM_001130026.2:c.*1207C>T, NM_001363538.2:c.*1207C>T, NM_001363538.1:c.*1207C>T, XM_047420217.1:c.*1207C>T, XM_047420218.1:c.*1207C>T

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