SNP Links for Gene (Select 84294) - SNP

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Select item 14908147141.

rs1490814714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:116764648 (GRCh38)
8:117776887 (GRCh37)
Canonical SPDI:: NC_000008.11:116764647:C:T
Gene:: EIF3H (Varview), UTP23 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.116764648C>T, NC_000008.10:g.117776887C>T

Select item 14903948902.

rs1490394890 has merged into rs546136321 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 8:116772182 (GRCh38)
8:117784421 (GRCh37)
Canonical SPDI:: NC_000008.11:116772181:AAAAAAAAAA:AAAAAAAAA,NC_000008.11:116772181:AAAAAAAAAA:AAAAAAAAAAA
Gene:: UTP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.00066/11 (TOMMO)
-=0.00281/18 (1000Genomes)
-=0.00328/6 (Korea1K)
-=0.00401/4 (GoNL)
HGVS:: NC_000008.11:g.116772191del, NC_000008.11:g.116772191dup, NC_000008.10:g.117784430del, NC_000008.10:g.117784430dup, NM_032334.3:c.*349del, NM_032334.3:c.*349dup, NM_032334.2:c.*349del, NM_032334.2:c.*349dup

Select item 14903801713.

rs1490380171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:116773385 (GRCh38)
8:117785624 (GRCh37)
Canonical SPDI:: NC_000008.11:116773384:C:T
Gene:: UTP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.116773385C>T, NC_000008.10:g.117785624C>T, NM_032334.3:c.*1543C>T, NM_032334.2:c.*1543C>T

Select item 14901583084.

rs1490158308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:116771707 (GRCh38)
8:117783946 (GRCh37)
Canonical SPDI:: NC_000008.11:116771706:T:C
Gene:: UTP23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.116771707T>C, NC_000008.10:g.117783946T>C, NM_032334.3:c.615T>C, NM_032334.2:c.615T>C

Select item 14900301965.

rs1490030196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:116774143 (GRCh38)
8:117786382 (GRCh37)
Canonical SPDI:: NC_000008.11:116774142:C:T
Gene:: UTP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116774143C>T, NC_000008.10:g.117786382C>T, NM_032334.3:c.*2301C>T, NM_032334.2:c.*2301C>T

Select item 14899036546.

rs1489903654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:116772767 (GRCh38)
8:117785006 (GRCh37)
Canonical SPDI:: NC_000008.11:116772766:A:C
Gene:: UTP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.116772767A>C, NC_000008.10:g.117785006A>C, NM_032334.3:c.*925A>C, NM_032334.2:c.*925A>C

Select item 14898881227.

rs1489888122 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:116773759 (GRCh38)
8:117785998 (GRCh37)
Canonical SPDI:: NC_000008.11:116773758:A:G
Gene:: UTP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.116773759A>G, NC_000008.10:g.117785998A>G, NM_032334.3:c.*1917A>G, NM_032334.2:c.*1917A>G

Select item 14890345988.

rs1489034598 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:116771103 (GRCh38)
8:117783342 (GRCh37)
Canonical SPDI:: NC_000008.11:116771102:A:G
Gene:: UTP23 (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_000008.11:g.116771103A>G, NC_000008.10:g.117783342A>G

Select item 14889247029.

rs1488924702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:116766444 (GRCh38)
8:117778683 (GRCh37)
Canonical SPDI:: NC_000008.11:116766443:T:C,NC_000008.11:116766443:T:G
Gene:: EIF3H (Varview), UTP23 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.116766444T>C, NC_000008.11:g.116766444T>G, NC_000008.10:g.117778683T>C, NC_000008.10:g.117778683T>G

Select item 148881856610.

rs1488818566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:116769189 (GRCh38)
8:117781428 (GRCh37)
Canonical SPDI:: NC_000008.11:116769188:A:G
Gene:: UTP23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.116769189A>G, NC_000008.10:g.117781428A>G

Select item 148880609211.

rs1488806092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:116774323 (GRCh38)
8:117786562 (GRCh37)
Canonical SPDI:: NC_000008.11:116774322:C:A
Gene:: UTP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.116774323C>A, NC_000008.10:g.117786562C>A, NM_032334.3:c.*2481C>A, NM_032334.2:c.*2481C>A

Select item 148870665012.

rs1488706650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:116770459 (GRCh38)
8:117782698 (GRCh37)
Canonical SPDI:: NC_000008.11:116770458:T:C
Gene:: UTP23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.116770459T>C, NC_000008.10:g.117782698T>C

Select item 148857585013.

rs1488575850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:116764811 (GRCh38)
8:117777050 (GRCh37)
Canonical SPDI:: NC_000008.11:116764810:G:A
Gene:: EIF3H (Varview), UTP23 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116764811G>A, NC_000008.10:g.117777050G>A

Select item 148843005514.

rs1488430055 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 8:116773465 (GRCh38)
8:117785704 (GRCh37)
Canonical SPDI:: NC_000008.11:116773464:TTTTTT:TTTTT,NC_000008.11:116773464:TTTTTT:TTTTTTT
Gene:: UTP23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.116773470del, NC_000008.11:g.116773470dup, NC_000008.10:g.117785709del, NC_000008.10:g.117785709dup, NM_032334.3:c.*1628del, NM_032334.3:c.*1628dup, NM_032334.2:c.*1628del, NM_032334.2:c.*1628dup

Select item 148828443615.

rs1488284436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:116767294 (GRCh38)
8:117779533 (GRCh37)
Canonical SPDI:: NC_000008.11:116767293:G:A
Gene:: EIF3H (Varview), UTP23 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.116767294G>A, NC_000008.10:g.117779533G>A

Select item 148808320716.

rs1488083207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:116770874 (GRCh38)
8:117783113 (GRCh37)
Canonical SPDI:: NC_000008.11:116770873:G:A
Gene:: UTP23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.116770874G>A, NC_000008.10:g.117783113G>A

Select item 148750110117.

rs1487501101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:116774711 (GRCh38)
8:117786950 (GRCh37)
Canonical SPDI:: NC_000008.11:116774710:T:G
Gene:: UTP23 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.116774711T>G, NC_000008.10:g.117786950T>G

Select item 148687549518.

rs1486875495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:116770724 (GRCh38)
8:117782963 (GRCh37)
Canonical SPDI:: NC_000008.11:116770723:G:T
Gene:: UTP23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.116770724G>T, NC_000008.10:g.117782963G>T

Select item 148565657119.

rs1485656571 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:116768649 (GRCh38)
8:117780888 (GRCh37)
Canonical SPDI:: NC_000008.11:116768645:TATAT:TAT
Gene:: UTP23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.116768647AT[1], NC_000008.10:g.117780886AT[1]

Select item 148530190620.

rs1485301906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:116767061 (GRCh38)
8:117779300 (GRCh37)
Canonical SPDI:: NC_000008.11:116767060:G:A,NC_000008.11:116767060:G:C
Gene:: EIF3H (Varview), UTP23 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.116767061G>A, NC_000008.11:g.116767061G>C, NC_000008.10:g.117779300G>A, NC_000008.10:g.117779300G>C

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