SNP Links for Gene (Select 134111) - SNP

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Select item 14915124481.

rs1491512448 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 5:6453710 (GRCh38)
5:6453824 (GRCh37)
Canonical SPDI:: NC_000005.10:6453710:A:AAA
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000011/3 (TOPMED)
AA=0.000589/2 (GnomAD)
HGVS:: NC_000005.10:g.6453711_6453712insAA, NC_000005.9:g.6453824_6453825insAA, NW_025791776.1:g.157521_157522insAA, XR_925737.3:n.4375_4376insAA, XR_007058679.1:n.4375_4376insAA

Select item 14914885862.

rs1491488586 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC [Show Flanks]
Chromosome:: 5:6450087 (GRCh38)
5:6450201 (GRCh37)
Canonical SPDI:: NC_000005.10:6450087:CC:CCACC
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCACC=0.00076/9 (ALFA)
CCA=0.0036/300 (GnomAD)
HGVS:: NC_000005.10:g.6450089_6450090insACC, NC_000005.9:g.6450202_6450203insACC, NW_025791776.1:g.153899_153900insACC, XR_925737.3:n.753_754insACC, XR_007058679.1:n.753_754insACC

Select item 14914806933.

rs1491480693 has merged into rs768975053 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 5:6450097 (GRCh38)
5:6450210 (GRCh37)
Canonical SPDI:: NC_000005.10:6450086:CCCCCCCCCCCC:CCCCCCCCCC,NC_000005.10:6450086:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000005.10:6450086:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000005.10:6450086:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000005.10:6450086:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000005.10:6450086:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000005.10:6450086:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000005.10:g.6450097_6450098del, NC_000005.10:g.6450098del, NC_000005.10:g.6450098dup, NC_000005.10:g.6450097_6450098dup, NC_000005.10:g.6450096_6450098dup, NC_000005.10:g.6450095_6450098dup, NC_000005.10:g.6450094_6450098dup, NC_000005.9:g.6450210_6450211del, NC_000005.9:g.6450211del, NC_000005.9:g.6450211dup, NC_000005.9:g.6450210_6450211dup, NC_000005.9:g.6450209_6450211dup, NC_000005.9:g.6450208_6450211dup, NC_000005.9:g.6450207_6450211dup, NW_025791776.1:g.153907_153908del, NW_025791776.1:g.153908del, NW_025791776.1:g.153908dup, NW_025791776.1:g.153907_153908dup, NW_025791776.1:g.153906_153908dup, NW_025791776.1:g.153905_153908dup, NW_025791776.1:g.153904_153908dup, XR_925737.3:n.761_762del, XR_925737.3:n.762del, XR_925737.3:n.762dup, XR_925737.3:n.761_762dup, XR_925737.3:n.760_762dup, XR_925737.3:n.759_762dup, XR_925737.3:n.758_762dup, XR_007058679.1:n.761_762del, XR_007058679.1:n.762del, XR_007058679.1:n.762dup, XR_007058679.1:n.761_762dup, XR_007058679.1:n.760_762dup, XR_007058679.1:n.759_762dup, XR_007058679.1:n.758_762dup

Select item 14914249674.

rs1491424967 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:6457564 (GRCh38)
5:6457677 (GRCh37)
Canonical SPDI:: NC_000005.10:6457563:AC:
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.6457564_6457565del, NC_000005.9:g.6457677_6457678del, NW_025791776.1:g.161374_161375del, XR_925737.3:n.8229_8230del, XR_925737.2:n.3156_3157del, XR_925737.1:n.3101_3102del, XR_007058679.1:n.8229_8230del

Select item 14914138675.

rs1491413867 [Homo sapiens]

Variant type:: INS
Alleles:: ->AACA [Show Flanks]
Chromosome:: 5:6447803 (GRCh38)
5:6447917 (GRCh37)
Canonical SPDI:: NC_000005.10:6447803::AACA
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AACA=0.000671/3 (ALFA)
AACA=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.6447803_6447804insAACA, NC_000005.9:g.6447916_6447917insAACA, NW_025791776.1:g.149977_149978insAACA

Select item 14913505186.

rs1491350518 has merged into rs544500838 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 5:6447878 (GRCh38)
5:6447991 (GRCh37)
Canonical SPDI:: NC_000005.10:6447869:ACACACACAC:ACACACAC,NC_000005.10:6447869:ACACACACAC:ACACACACACAC
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
-=0.00026/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
-=0.00055/1 (Korea1K)
-=0.00083/14 (TOMMO)
-=0.00484/24 (1000Genomes)
HGVS:: NC_000005.10:g.6447870AC[4], NC_000005.10:g.6447870AC[6], NC_000005.9:g.6447983AC[4], NC_000005.9:g.6447983AC[6], NW_025791776.1:g.150044AC[4], NW_025791776.1:g.150044AC[6]

Select item 14912562727.

rs1491256272 has merged into rs1436787640 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 5:6447806 (GRCh38)
5:6447919 (GRCh37)
Canonical SPDI:: NC_000005.10:6447802:CCCCC:CCC,NC_000005.10:6447802:CCCCC:CCCC,NC_000005.10:6447802:CCCCC:CCCCCC
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000005.10:g.6447806_6447807del, NC_000005.10:g.6447807del, NC_000005.10:g.6447807dup, NC_000005.9:g.6447919_6447920del, NC_000005.9:g.6447920del, NC_000005.9:g.6447920dup, NW_025791776.1:g.149980_149981del, NW_025791776.1:g.149981del, NW_025791776.1:g.149981dup

Select item 14912558668.

rs1491255866 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:6447869 (GRCh38)
5:6447982 (GRCh37)
Canonical SPDI:: NC_000005.10:6447868:TA:
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.6447869_6447870del, NC_000005.9:g.6447982_6447983del, NW_025791776.1:g.150043_150044del

Select item 14910709079.

rs1491070907 has merged into rs144066440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC [Show Flanks]
Chromosome:: 5:6447380 (GRCh38)
5:6447493 (GRCh37)
Canonical SPDI:: NC_000005.10:6447376:CACACACAC:CAC,NC_000005.10:6447376:CACACACAC:CACAC,NC_000005.10:6447376:CACACACAC:CACACAC,NC_000005.10:6447376:CACACACAC:CACACACACAC,NC_000005.10:6447376:CACACACAC:CACACACACACAC
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACAC=0./0 (ALFA)
-=0.0757/379 (1000Genomes)
CA=0.356/1372 (TOMMO)
-=0.5/8 (NorthernSweden)
HGVS:: NC_000005.10:g.6447378AC[1], NC_000005.10:g.6447378AC[2], NC_000005.10:g.6447378AC[3], NC_000005.10:g.6447378AC[5], NC_000005.10:g.6447378AC[6], NC_000005.9:g.6447491AC[1], NC_000005.9:g.6447491AC[2], NC_000005.9:g.6447491AC[3], NC_000005.9:g.6447491AC[5], NC_000005.9:g.6447491AC[6], NW_025791776.1:g.149552AC[1], NW_025791776.1:g.149552AC[2], NW_025791776.1:g.149552AC[3], NW_025791776.1:g.149552AC[5], NW_025791776.1:g.149552AC[6]

Select item 149106706810.

rs1491067068 has merged into rs1553987855 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:6461543 (GRCh38)
5:6461656 (GRCh37)
Canonical SPDI:: NC_000005.10:6461541:CAC:C
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00086/34 (GnomAD)
-=0.00661/10 (Korea1K)
HGVS:: NC_000005.10:g.6461543_6461544del, NC_000005.9:g.6461656_6461657del, NW_025791776.1:g.165353_165354del, XR_007058679.1:n.12096_12097del

Select item 149103668511.

rs1491036685 has merged into rs139840677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC [Show Flanks]
Chromosome:: 5:6447533 (GRCh38)
5:6447646 (GRCh37)
Canonical SPDI:: NC_000005.10:6447525:CACACACACAC:CACACAC,NC_000005.10:6447525:CACACACACAC:CACACACAC,NC_000005.10:6447525:CACACACACAC:CACACACACACAC,NC_000005.10:6447525:CACACACACAC:CACACACACACACAC
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACAC=0./0 (ALFA)
-=0.0637/34 (Korea1K)
-=0.1134/568 (1000Genomes)
CA=0.4919/2666 (TOMMO)
HGVS:: NC_000005.10:g.6447527AC[3], NC_000005.10:g.6447527AC[4], NC_000005.10:g.6447527AC[6], NC_000005.10:g.6447527AC[7], NC_000005.9:g.6447640AC[3], NC_000005.9:g.6447640AC[4], NC_000005.9:g.6447640AC[6], NC_000005.9:g.6447640AC[7], NW_025791776.1:g.149701AC[3], NW_025791776.1:g.149701AC[4], NW_025791776.1:g.149701AC[6], NW_025791776.1:g.149701AC[7]

Select item 149101384412.

rs1491013844 has merged into rs1272593894 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 5:6453736 (GRCh38)
5:6453849 (GRCh37)
Canonical SPDI:: NC_000005.10:6453732:AGAGA:AGA,NC_000005.10:6453732:AGAGA:AGAGAGA
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
HGVS:: NC_000005.10:g.6453734GA[1], NC_000005.10:g.6453734GA[3], NC_000005.9:g.6453847GA[1], NC_000005.9:g.6453847GA[3], NW_025791776.1:g.157544GA[1], NW_025791776.1:g.157544GA[3], XR_925737.3:n.4398GA[1], XR_925737.3:n.4398GA[3], XR_007058679.1:n.4398GA[1], XR_007058679.1:n.4398GA[3]

Select item 149096920713.

rs1490969207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:6472027 (GRCh38)
5:6472140 (GRCh37)
Canonical SPDI:: NC_000005.10:6472026:C:T
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_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_000005.10:g.6472027C>T, NC_000005.9:g.6472140C>T, NW_025791776.1:g.175837C>T

Select item 149090606514.

rs1490906065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:6449718 (GRCh38)
5:6449831 (GRCh37)
Canonical SPDI:: NC_000005.10:6449717:C:A
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.6449718C>A, NC_000005.9:g.6449831C>A, NW_025791776.1:g.153528C>A, XR_925737.3:n.382C>A, XR_007058679.1:n.382C>A

Select item 149087013815.

rs1490870138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:6487560 (GRCh38)
5:6487673 (GRCh37)
Canonical SPDI:: NC_000005.10:6487559:G:A,NC_000005.10:6487559:G:T
Gene:: UBE2QL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.6487560G>A, NC_000005.10:g.6487560G>T, NC_000005.9:g.6487673G>A, NC_000005.9:g.6487673G>T, NW_025791776.1:g.191370G>A, NW_025791776.1:g.191370G>T

Select item 149086601516.

rs1490866015 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:6469939 (GRCh38)
5:6470052 (GRCh37)
Canonical SPDI:: NC_000005.10:6469938:T:C
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.6469939T>C, NC_000005.9:g.6470052T>C, NW_025791776.1:g.173749T>C, XR_007058679.1:n.20492T>C

Select item 149081626517.

rs1490816265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:6453116 (GRCh38)
5:6453229 (GRCh37)
Canonical SPDI:: NC_000005.10:6453115:C:A
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.6453116C>A, NC_000005.9:g.6453229C>A, NW_025791776.1:g.156926C>A, XR_925737.3:n.3780C>A, XR_007058679.1:n.3780C>A

Select item 149079214718.

rs1490792147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:6494224 (GRCh38)
5:6494337 (GRCh37)
Canonical SPDI:: NC_000005.10:6494223:T:G
Gene:: UBE2QL1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.6494224T>G, NC_000005.9:g.6494337T>G, NW_025791776.1:g.198034T>G, NM_001145161.3:c.*2875T>G, NM_001145161.2:c.*2875T>G

Select item 149075910319.

rs1490759103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:6455812 (GRCh38)
5:6455925 (GRCh37)
Canonical SPDI:: NC_000005.10:6455811:C:T
Gene:: UBE2QL1 (Varview), LOC105374639 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.6455812C>T, NC_000005.9:g.6455925C>T, NW_025791776.1:g.159622C>T, XR_925737.3:n.6476C>T, XR_925737.2:n.1403C>T, XR_925737.1:n.1348C>T, XR_007058679.1:n.6476C>T

Select item 149069195020.

rs1490691950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:6479190 (GRCh38)
5:6479303 (GRCh37)
Canonical SPDI:: NC_000005.10:6479189:T:A
Gene:: UBE2QL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.6479190T>A, NC_000005.9:g.6479303T>A, NW_025791776.1:g.183000T>A

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