SNP Links for Gene (Select 30851) - SNP

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Select item 14915763111.

rs1491576311 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:3670173 (GRCh38)
17:3573467 (GRCh37)
Canonical SPDI:: NC_000017.11:3670172:AG:
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.3670173_3670174del, NC_000017.10:g.3573467_3573468del, NG_053154.1:g.3506_3507del, NR_037928.1:n.3978_3979del

Select item 14910396282.

rs1491039628 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:3670194 (GRCh38)
17:3573488 (GRCh37)
Canonical SPDI:: NC_000017.11:3670191:AGAG:AG
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.3670192AG[1], NC_000017.10:g.3573486AG[1], NG_053154.1:g.3485CT[1], NR_037928.1:n.3957CT[1]

Select item 14904701803.

rs1490470180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3665765 (GRCh38)
17:3569059 (GRCh37)
Canonical SPDI:: NC_000017.11:3665764:A:G
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000058/8 (GnomAD)
HGVS:: NC_000017.11:g.3665765A>G, NC_000017.10:g.3569059A>G, NG_053154.1:g.7915T>C, NG_010788.1:g.689A>G

Select item 14900325324.

rs1490032532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:3666116 (GRCh38)
17:3569410 (GRCh37)
Canonical SPDI:: NC_000017.11:3666115:A:C
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.3666116A>C, NC_000017.10:g.3569410A>C, NG_053154.1:g.7564T>G

Select item 14889985475.

rs1488998547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:3668590 (GRCh38)
17:3571884 (GRCh37)
Canonical SPDI:: NC_000017.11:3668589:C:A,NC_000017.11:3668589:C:G
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3668590C>A, NC_000017.11:g.3668590C>G, NC_000017.10:g.3571884C>A, NC_000017.10:g.3571884C>G, NG_053154.1:g.5090G>T, NG_053154.1:g.5090G>C, NM_014604.3:c.-64G>T, NM_014604.3:c.-64G>C, NM_001204698.1:c.-64G>T, NM_001204698.1:c.-64G>C

Select item 14888355156.

rs1488835515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:3670193 (GRCh38)
17:3573487 (GRCh37)
Canonical SPDI:: NC_000017.11:3670192:G:A,NC_000017.11:3670192:G:C
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.001168/33 (TOMMO)
A=0.001369/4 (KOREAN)
HGVS:: NC_000017.11:g.3670193G>A, NC_000017.11:g.3670193G>C, NC_000017.10:g.3573487G>A, NC_000017.10:g.3573487G>C, NG_053154.1:g.3487C>T, NG_053154.1:g.3487C>G, NR_037928.1:n.3959C>T, NR_037928.1:n.3959C>G

Select item 14887454787.

rs1488745478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:3665389 (GRCh38)
17:3568683 (GRCh37)
Canonical SPDI:: NC_000017.11:3665388:A:G
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.008511/139 (ALFA)
G=0.002183/4 (Korea1K)
G=0.002247/268 (GnomAD)
G=0.005733/96 (TOMMO)
G=0.008432/54 (1000Genomes)
G=0.012946/58 (Estonian)
HGVS:: NC_000017.11:g.3665389A>G, NC_000017.10:g.3568683A>G, NG_053154.1:g.8291T>C, NG_010788.1:g.313A>G

Select item 14886201948.

rs1488620194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3663969 (GRCh38)
17:3567263 (GRCh37)
Canonical SPDI:: NC_000017.11:3663968:T:C
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (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_000017.11:g.3663969T>C, NC_000017.10:g.3567263T>C, NG_012489.2:g.32502T>C, NG_053154.1:g.9711A>G

Select item 14883363759.

rs1488336375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:3665746 (GRCh38)
17:3569040 (GRCh37)
Canonical SPDI:: NC_000017.11:3665745:A:C,NC_000017.11:3665745:A:G
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.3665746A>C, NC_000017.11:g.3665746A>G, NC_000017.10:g.3569040A>C, NC_000017.10:g.3569040A>G, NG_053154.1:g.7934T>G, NG_053154.1:g.7934T>C, NG_010788.1:g.670A>C, NG_010788.1:g.670A>G

Select item 148801485210.

rs1488014852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3668298 (GRCh38)
17:3571592 (GRCh37)
Canonical SPDI:: NC_000017.11:3668297:T:C
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.3668298T>C, NC_000017.10:g.3571592T>C, NG_053154.1:g.5382A>G

Select item 148792387811.

rs1487923878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:3667057 (GRCh38)
17:3570351 (GRCh37)
Canonical SPDI:: NC_000017.11:3667056:G:C
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3667057G>C, NC_000017.10:g.3570351G>C, NG_053154.1:g.6623C>G

Select item 148785413812.

rs1487854138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:3668879 (GRCh38)
17:3572173 (GRCh37)
Canonical SPDI:: NC_000017.11:3668878:G:A
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.3668879G>A, NC_000017.10:g.3572173G>A, NG_053154.1:g.4801C>T, NM_031298.4:c.-70G>A, NM_031298.3:c.-70G>A, NM_031298.2:c.-70G>A, NM_001014764.3:c.-183G>A, NM_001014764.2:c.-183G>A, NM_001014764.1:c.-183G>A

Select item 148719927113.

rs1487199271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:3669746 (GRCh38)
17:3573040 (GRCh37)
Canonical SPDI:: NC_000017.11:3669745:G:A
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.3669746G>A, NC_000017.10:g.3573040G>A, NG_053154.1:g.3934C>T, NR_037928.1:n.4406C>T

Select item 148689712214.

rs1486897122 [Homo sapiens]

Variant type:: DEL
Alleles:: CATG>- [Show Flanks]
Chromosome:: 17:3665283 (GRCh38)
17:3568577 (GRCh37)
Canonical SPDI:: NC_000017.11:3665282:CATG:
Gene:: TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00288/47 (ALFA)
-=0.0029/49 (TOMMO)
-=0.01116/50 (Estonian)
HGVS:: NC_000017.11:g.3665283_3665286del, NC_000017.10:g.3568577_3568580del, NG_053154.1:g.8394_8397del, NG_010788.1:g.207_210del

Select item 148669722415.

rs1486697224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:3669581 (GRCh38)
17:3572875 (GRCh37)
Canonical SPDI:: NC_000017.11:3669580:C:A
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_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_000017.11:g.3669581C>A, NC_000017.10:g.3572875C>A, NG_053154.1:g.4099G>T, NM_031298.4:c.*102C>A, NM_031298.3:c.*102C>A, NM_031298.2:c.*102C>A, NM_001014764.3:c.*102C>A, NM_001014764.2:c.*102C>A, NM_001014764.1:c.*102C>A, NR_037928.1:n.4571G>T

Select item 148647417616.

rs1486474176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:3666901 (GRCh38)
17:3570195 (GRCh37)
Canonical SPDI:: NC_000017.11:3666900:G:A,NC_000017.11:3666900:G:T
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.3666901G>A, NC_000017.11:g.3666901G>T, NC_000017.10:g.3570195G>A, NC_000017.10:g.3570195G>T, NG_053154.1:g.6779C>T, NG_053154.1:g.6779C>A

Select item 148640500717.

rs1486405007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3667409 (GRCh38)
17:3570703 (GRCh37)
Canonical SPDI:: NC_000017.11:3667408:T:C
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.3667409T>C, NC_000017.10:g.3570703T>C, NG_053154.1:g.6271A>G

Select item 148635500818.

rs1486355008 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AGG
Chromosome:: no mapping
Canonical SPDI:

Select item 148619925119.

rs1486199251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:3662893 (GRCh38)
17:3566187 (GRCh37)
Canonical SPDI:: NC_000017.11:3662892:T:C
Gene:: CTNS (Varview), TAX1BP3 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.3662893T>C, NC_000017.10:g.3566187T>C, NG_012489.2:g.31426T>C, NM_004937.3:c.*2524T>C, NM_004937.2:c.*2524T>C, NM_001031681.3:c.*2159T>C, NM_001031681.2:c.*2159T>C, NM_001374494.1:c.*2524T>C, NM_001374493.1:c.*2524T>C, NM_001374495.1:c.*2524T>C, NM_001374496.1:c.*2524T>C, NM_001374492.1:c.*2159T>C, NG_053154.1:g.10787A>G, XM_006721463.4:c.*2159T>C, XM_011523691.3:c.*2159T>C, XM_011523692.3:c.*2159T>C, NM_014604.3:c.*855A>G, NR_037928.1:n.6285A>G, NM_001204698.1:c.*855A>G

Select item 148474708920.

rs1484747089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:3668811 (GRCh38)
17:3572105 (GRCh37)
Canonical SPDI:: NC_000017.11:3668810:C:G
Gene:: TAX1BP3 (Varview), EMC6 (Varview), P2RX5-TAX1BP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.3668811C>G, NC_000017.10:g.3572105C>G, NG_053154.1:g.4869G>C, NM_031298.3:c.-138C>G, NM_001014764.2:c.-251C>G, NM_031298.2:c.-138C>G, NM_001014764.1:c.-251C>G

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