SNP Links for Gene (Select 10017) - SNP

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Select item 14914562441.

rs1491456244 has merged into rs1337118440 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 15:52109993 (GRCh38)
15:52402190 (GRCh37)
Canonical SPDI:: NC_000015.10:52109990:AAAA:AA,NC_000015.10:52109990:AAAA:AAA
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0./0 (ExAC)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000015.10:g.52109993_52109994del, NC_000015.10:g.52109994del, NC_000015.9:g.52402190_52402191del, NC_000015.9:g.52402191del

Select item 14909533442.

rs1490953344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:52110848 (GRCh38)
15:52403045 (GRCh37)
Canonical SPDI:: NC_000015.10:52110847:C:G
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.52110848C>G, NC_000015.9:g.52403045C>G

Select item 14907518803.

rs1490751880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52108877 (GRCh38)
15:52401074 (GRCh37)
Canonical SPDI:: NC_000015.10:52108876:A:G
Gene:: BCL2L10 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52108877A>G, NC_000015.9:g.52401074A>G

Select item 14906933974.

rs1490693397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:52111219 (GRCh38)
15:52403416 (GRCh37)
Canonical SPDI:: NC_000015.10:52111218:G:C
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000496/8 (TOMMO)
C=0.000671/3 (Estonian)
C=0.007534/22 (KOREAN)
HGVS:: NC_000015.10:g.52111219G>C, NC_000015.9:g.52403416G>C

Select item 14897271845.

rs1489727184 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52112261 (GRCh38)
15:52404458 (GRCh37)
Canonical SPDI:: NC_000015.10:52112260:A:G
Gene:: BCL2L10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000015.10:g.52112261A>G, NC_000015.9:g.52404458A>G, NM_020396.4:c.466T>C, NM_020396.3:c.466T>C, NM_020396.2:c.466T>C, NM_001306168.1:c.466T>C, NP_065129.1:p.Trp156Arg, NP_001293097.1:p.Trp156Arg

Select item 14894595746.

rs1489459574 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:52112958 (GRCh38)
15:52405155 (GRCh37)
Canonical SPDI:: NC_000015.10:52112955:TGTG:TG
Gene:: BCL2L10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.52112956TG[1], NC_000015.9:g.52405153TG[1]

Select item 14894150027.

rs1489415002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:52111866 (GRCh38)
15:52404063 (GRCh37)
Canonical SPDI:: NC_000015.10:52111865:C:A,NC_000015.10:52111865:C:T
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.52111866C>A, NC_000015.10:g.52111866C>T, NC_000015.9:g.52404063C>A, NC_000015.9:g.52404063C>T

Select item 14893481578.

rs1489348157 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:52111026 (GRCh38)
15:52403223 (GRCh37)
Canonical SPDI:: NC_000015.10:52111025:A:C
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.52111026A>C, NC_000015.9:g.52403223A>C

Select item 14890453059.

rs1489045305 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52111761 (GRCh38)
15:52403958 (GRCh37)
Canonical SPDI:: NC_000015.10:52111760:C:T
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52111761C>T, NC_000015.9:g.52403958C>T

Select item 148763204310.

rs1487632043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52112165 (GRCh38)
15:52404362 (GRCh37)
Canonical SPDI:: NC_000015.10:52112164:C:T
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52112165C>T, NC_000015.9:g.52404362C>T

Select item 148740671011.

rs1487406710 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:52111399 (GRCh38)
15:52403597 (GRCh37)
Canonical SPDI:: NC_000015.10:52111399:CCCCC:CCCCCC
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0.000071/1 (ALFA)
C=0.000022/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.52111404dup, NC_000015.9:g.52403601dup

Select item 148712679412.

rs1487126794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:52110986 (GRCh38)
15:52403183 (GRCh37)
Canonical SPDI:: NC_000015.10:52110985:A:C,NC_000015.10:52110985:A:G
Gene:: BCL2L10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.52110986A>C, NC_000015.10:g.52110986A>G, NC_000015.9:g.52403183A>C, NC_000015.9:g.52403183A>G

Select item 148643755713.

rs1486437557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52112262 (GRCh38)
15:52404459 (GRCh37)
Canonical SPDI:: NC_000015.10:52112261:G:A
Gene:: BCL2L10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52112262G>A, NC_000015.9:g.52404459G>A, NM_020396.4:c.465C>T, NM_020396.3:c.465C>T, NM_020396.2:c.465C>T, NM_001306168.1:c.465C>T

Select item 148596451514.

rs1485964515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:52112441 (GRCh38)
15:52404638 (GRCh37)
Canonical SPDI:: NC_000015.10:52112440:T:A,NC_000015.10:52112440:T:C
Gene:: BCL2L10 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000015.10:g.52112441T>A, NC_000015.10:g.52112441T>C, NC_000015.9:g.52404638T>A, NC_000015.9:g.52404638T>C, NM_020396.4:c.286A>T, NM_020396.4:c.286A>G, NM_020396.3:c.286A>T, NM_020396.3:c.286A>G, NM_020396.2:c.286A>T, NM_020396.2:c.286A>G, NM_001306168.1:c.286A>T, NM_001306168.1:c.286A>G, NP_065129.1:p.Arg96Ter, NP_065129.1:p.Arg96Gly, NP_001293097.1:p.Arg96Ter, NP_001293097.1:p.Arg96Gly

Select item 148567111815.

rs1485671118 has merged into rs61344588 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCGGCCCCCGG>-,CCCCCGG,CCCCCGGCCCCCGGCCCCCGG,CCCCCGGCCCCCGGCCCCCGGCCCCCGG,CCCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGG [Show Flanks]
Chromosome:: 15:52112825 (GRCh38)
15:52405022 (GRCh37)
Canonical SPDI:: NC_000015.10:52112811:CCCCGGCCCCCGGCCCCCGGCCCCCGG:CCCCGGCCCCCGG,NC_000015.10:52112811:CCCCGGCCCCCGGCCCCCGGCCCCCGG:CCCCGGCCCCCGGCCCCCGG,NC_000015.10:52112811:CCCCGGCCCCCGGCCCCCGGCCCCCGG:CCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGG,NC_000015.10:52112811:CCCCGGCCCCCGGCCCCCGGCCCCCGG:CCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGG,NC_000015.10:52112811:CCCCGGCCCCCGGCCCCCGGCCCCCGG:CCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGG
Gene:: BCL2L10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGGCCCCCGG=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
-=0.17722/683 (ALSPAC)
-=0.18447/684 (TWINSUK)
HGVS:: NC_000015.10:g.52112818CCCCCGG[1], NC_000015.10:g.52112818CCCCCGG[2], NC_000015.10:g.52112818CCCCCGG[4], NC_000015.10:g.52112818CCCCCGG[5], NC_000015.10:g.52112818CCCCCGG[6], NC_000015.9:g.52405015CCCCCGG[1], NC_000015.9:g.52405015CCCCCGG[2], NC_000015.9:g.52405015CCCCCGG[4], NC_000015.9:g.52405015CCCCCGG[5], NC_000015.9:g.52405015CCCCCGG[6]

Select item 148514342516.

rs1485143425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52112833 (GRCh38)
15:52405030 (GRCh37)
Canonical SPDI:: NC_000015.10:52112832:C:T
Gene:: BCL2L10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52112833C>T, NC_000015.9:g.52405030C>T

Select item 148485092317.

rs1484850923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:52113512 (GRCh38)
15:52405709 (GRCh37)
Canonical SPDI:: NC_000015.10:52113511:T:A
Gene:: BCL2L10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.52113512T>A, NC_000015.9:g.52405709T>A

Select item 148468321918.

rs1484683219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:52113091 (GRCh38)
15:52405288 (GRCh37)
Canonical SPDI:: NC_000015.10:52113090:A:T
Gene:: BCL2L10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000015.10:g.52113091A>T, NC_000015.9:g.52405288A>T

Select item 148462301919.

rs1484623019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52113684 (GRCh38)
15:52405881 (GRCh37)
Canonical SPDI:: NC_000015.10:52113683:C:T
Gene:: BCL2L10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52113684C>T, NC_000015.9:g.52405881C>T

Select item 148434705720.

rs1484347057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52114452 (GRCh38)
15:52406649 (GRCh37)
Canonical SPDI:: NC_000015.10:52114451:C:T
Gene:: BCL2L10 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.52114452C>T, NC_000015.9:g.52406649C>T

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