SNP Links for Gene (Select 100506281) - SNP

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Select item 14907783901.

rs1490778390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:75226892 (GRCh38)
16:75260790 (GRCh37)
Canonical SPDI:: NC_000016.10:75226891:C:G
Gene:: LOC100506281 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.75226892C>G, NC_000016.9:g.75260790C>G, NG_051057.1:g.12907C>G, NW_018654723.1:g.57108C>G, NR_109777.1:n.326C>G

Select item 14906831182.

rs1490683118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:75228585 (GRCh38)
16:75262483 (GRCh37)
Canonical SPDI:: NC_000016.10:75228584:T:C
Gene:: BCAR1 (Varview), LOC100506281 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.75228585T>C, NC_000016.9:g.75262483T>C, NW_018654723.1:g.58801T>C, NM_014567.5:c.*926A>G, NM_014567.4:c.*926A>G, NM_001170714.3:c.*926A>G, NM_001170714.2:c.*926A>G, NM_001170717.3:c.*926A>G, NM_001170717.2:c.*926A>G, NM_001170716.3:c.*926A>G, NM_001170716.2:c.*926A>G, NM_001170718.3:c.*926A>G, NM_001170718.2:c.*926A>G, NM_001170719.3:c.*926A>G, NM_001170719.2:c.*926A>G, NM_001170715.3:c.*926A>G, NM_001170715.2:c.*926A>G, NM_001170721.3:c.*926A>G, NM_001170721.2:c.*926A>G, NM_001170720.3:c.*926A>G, NM_001170720.2:c.*926A>G

Select item 14905352653.

rs1490535265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:75226200 (GRCh38)
16:75260098 (GRCh37)
Canonical SPDI:: NC_000016.10:75226199:C:A,NC_000016.10:75226199:C:G
Gene:: LOC100506281 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00025/4 (TOMMO)
G=0.00109/2 (Korea1K)
G=0.0024/7 (KOREAN)
HGVS:: NC_000016.10:g.75226200C>A, NC_000016.10:g.75226200C>G, NC_000016.9:g.75260098C>A, NC_000016.9:g.75260098C>G, NG_051057.1:g.12215C>A, NG_051057.1:g.12215C>G, NW_018654723.1:g.56416C>A, NW_018654723.1:g.56416C>G

Select item 14900450794.

rs1490045079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:75227815 (GRCh38)
16:75261713 (GRCh37)
Canonical SPDI:: NC_000016.10:75227814:A:C,NC_000016.10:75227814:A:G
Gene:: BCAR1 (Varview), LOC100506281 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.75227815A>C, NC_000016.10:g.75227815A>G, NC_000016.9:g.75261713A>C, NC_000016.9:g.75261713A>G, NW_018654723.1:g.58031A>C, NW_018654723.1:g.58031A>G

Select item 14899517345.

rs1489951734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:75227206 (GRCh38)
16:75261104 (GRCh37)
Canonical SPDI:: NC_000016.10:75227205:C:A,NC_000016.10:75227205:C:T
Gene:: LOC100506281 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.75227206C>A, NC_000016.10:g.75227206C>T, NC_000016.9:g.75261104C>A, NC_000016.9:g.75261104C>T, NW_018654723.1:g.57422C>A, NW_018654723.1:g.57422C>T, NR_109777.1:n.547C>A, NR_109777.1:n.547C>T

Select item 14897858626.

rs1489785862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:75225562 (GRCh38)
16:75259460 (GRCh37)
Canonical SPDI:: NC_000016.10:75225561:A:G
Gene:: LOC100506281 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.75225562A>G, NC_000016.9:g.75259460A>G, NG_051057.1:g.11577A>G, NW_018654723.1:g.55778A>G

Select item 14888190897.

rs1488819089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:75227850 (GRCh38)
16:75261748 (GRCh37)
Canonical SPDI:: NC_000016.10:75227849:C:A,NC_000016.10:75227849:C:G
Gene:: BCAR1 (Varview), LOC100506281 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.75227850C>A, NC_000016.10:g.75227850C>G, NC_000016.9:g.75261748C>A, NC_000016.9:g.75261748C>G, NW_018654723.1:g.58066C>A, NW_018654723.1:g.58066C>G

Select item 14885103758.

rs1488510375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:75227914 (GRCh38)
16:75261812 (GRCh37)
Canonical SPDI:: NC_000016.10:75227913:G:A
Gene:: BCAR1 (Varview), LOC100506281 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_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_000016.10:g.75227914G>A, NC_000016.9:g.75261812G>A, NW_018654723.1:g.58130G>A

Select item 14882170369.

rs1488217036 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTG>- [Show Flanks]
Chromosome:: 16:75224761 (GRCh38)
16:75258659 (GRCh37)
Canonical SPDI:: NC_000016.10:75224759:GCATTG:G
Gene:: CTRB1 (Varview), LOC100506281 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.75224761_75224765del, NC_000016.9:g.75258659_75258663del, NG_051057.1:g.10776_10780del, NM_001906.6:c.687_691del, NM_001906.5:c.687_691del, NM_001906.4:c.687_691del, NM_001329190.2:c.553_557del, NM_001329190.1:c.553_557del, NW_018654723.1:g.54973_54977del, NP_001897.4:p.Ile230fs, NP_001316119.1:p.His185fs

Select item 148819498010.

rs1488194980 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:75225911 (GRCh38)
16:75259809 (GRCh37)
Canonical SPDI:: NC_000016.10:75225910:C:G
Gene:: LOC100506281 (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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.75225911C>G, NC_000016.9:g.75259809C>G, NG_051057.1:g.11926C>G, NW_018654723.1:g.56127C>G

Select item 148816716511.

rs1488167165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:75226576 (GRCh38)
16:75260474 (GRCh37)
Canonical SPDI:: NC_000016.10:75226575:G:A
Gene:: LOC100506281 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.75226576G>A, NC_000016.9:g.75260474G>A, NG_051057.1:g.12591G>A, NW_018654723.1:g.56792G>A, NR_109777.1:n.104G>A

Select item 148772088912.

rs1487720889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:75226503 (GRCh38)
16:75260401 (GRCh37)
Canonical SPDI:: NC_000016.10:75226502:C:G
Gene:: LOC100506281 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.75226503C>G, NC_000016.9:g.75260401C>G, NG_051057.1:g.12518C>G, NW_018654723.1:g.56719C>G, NR_109777.1:n.31C>G

Select item 148718496213.

rs1487184962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:75226331 (GRCh38)
16:75260229 (GRCh37)
Canonical SPDI:: NC_000016.10:75226330:A:T
Gene:: LOC100506281 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.75226331A>T, NC_000016.9:g.75260229A>T, NG_051057.1:g.12346A>T, NW_018654723.1:g.56547A>T

Select item 148702700214.

rs1487027002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75225661 (GRCh38)
16:75259559 (GRCh37)
Canonical SPDI:: NC_000016.10:75225660:C:T
Gene:: LOC100506281 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000016.10:g.75225661C>T, NC_000016.9:g.75259559C>T, NG_051057.1:g.11676C>T, NW_018654723.1:g.55877C>T

Select item 148687489915.

rs1486874899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:75226405 (GRCh38)
16:75260303 (GRCh37)
Canonical SPDI:: NC_000016.10:75226404:C:T
Gene:: LOC100506281 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.75226405C>T, NC_000016.9:g.75260303C>T, NG_051057.1:g.12420C>T, NW_018654723.1:g.56621C>T

Select item 148524477216.

rs1485244772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:75225126 (GRCh38)
16:75259024 (GRCh37)
Canonical SPDI:: NC_000016.10:75225125:G:C
Gene:: CTRB1 (Varview), LOC100506281 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.75225126G>C, NC_000016.9:g.75259024G>C, NG_051057.1:g.11141G>C, NW_018654723.1:g.55338G>C

Select item 148514225317.

rs1485142253 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:75224493 (GRCh38)
16:75258391 (GRCh37)
Canonical SPDI:: NC_000016.10:75224492:T:C
Gene:: CTRB1 (Varview), LOC100506281 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.75224493T>C, NC_000016.9:g.75258391T>C, NG_051057.1:g.10508T>C, NW_018654723.1:g.54705T>C

Select item 148464585118.

rs1484645851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:75224421 (GRCh38)
16:75258319 (GRCh37)
Canonical SPDI:: NC_000016.10:75224420:T:A
Gene:: CTRB1 (Varview), LOC100506281 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.75224421T>A, NC_000016.9:g.75258319T>A, NG_051057.1:g.10436T>A, NW_018654723.1:g.54633T>A

Select item 148422730919.

rs1484227309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:75227800 (GRCh38)
16:75261698 (GRCh37)
Canonical SPDI:: NC_000016.10:75227799:C:G
Gene:: BCAR1 (Varview), LOC100506281 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.75227800C>G, NC_000016.9:g.75261698C>G, NW_018654723.1:g.58016C>G