SNP Links for Gene (Select 286554) - SNP

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Select item 14904200651.

rs1490420065 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATACCATACTATACTATAC>- [Show Flanks]
Chromosome:: Y:19458702 (GRCh38)
Y:21620588 (GRCh37)
Canonical SPDI:: NC_000024.10:19458687:ATACTATACTATACCATACCATACTATACTATAC:ATACTATACTATAC
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.01569/423 (GnomAD)
HGVS:: NC_000024.10:g.19458702_19458721del, NC_000024.9:g.21620588_21620607del

Select item 14899291442.

rs1489929144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:19499504 (GRCh38)
Y:21661390 (GRCh37)
Canonical SPDI:: NC_000024.10:19499503:T:C
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000024.10:g.19499504T>C, NC_000024.9:g.21661390T>C

Select item 14880125433.

rs1488012543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:19465948 (GRCh38)
Y:21627834 (GRCh37)
Canonical SPDI:: NC_000024.10:19465947:C:G
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000024.10:g.19465948C>G, NC_000024.9:g.21627834C>G

Select item 14871841524.

rs1487184152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:19458252 (GRCh38)
Y:21620138 (GRCh37)
Canonical SPDI:: NC_000024.10:19458251:G:T
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000024.10:g.19458252G>T, NC_000024.9:g.21620138G>T

Select item 14822174215.

rs1482217421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:19474742 (GRCh38)
Y:21636628 (GRCh37)
Canonical SPDI:: NC_000024.10:19474741:T:C
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.19474742T>C, NC_000024.9:g.21636628T>C, NR_002923.2:n.410A>G, NR_033732.1:n.410A>G, NM_173700.1:c.-252A>G, NM_001173413.1:c.82A>G

Select item 14813359186.

rs1481335918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:19500286 (GRCh38)
Y:21662172 (GRCh37)
Canonical SPDI:: NC_000024.10:19500285:G:C
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00063/1 (1000Genomes)
C=0.00108/32 (GnomAD)
HGVS:: NC_000024.10:g.19500286G>C, NC_000024.9:g.21662172G>C

Select item 14803009037.

rs1480300903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:19454966 (GRCh38)
Y:21616852 (GRCh37)
Canonical SPDI:: NC_000024.10:19454965:G:C
Gene:: BCORP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000024.10:g.19454966G>C, NC_000024.9:g.21616852G>C

Select item 14796334868.

rs1479633486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:19466835 (GRCh38)
Y:21628721 (GRCh37)
Canonical SPDI:: NC_000024.10:19466834:G:T
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000024.10:g.19466835G>T, NC_000024.9:g.21628721G>T, NR_002923.2:n.1292C>A, NR_033732.1:n.1292C>A, NM_173700.1:c.*193C>A

Select item 14769047129.

rs1476904712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: Y:19489079 (GRCh38)
Y:21650965 (GRCh37)
Canonical SPDI:: NC_000024.10:19489078:T:G
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000024.10:g.19489079T>G, NC_000024.9:g.21650965T>G

Select item 147522163610.

rs1475221636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: Y:19478565 (GRCh38)
Y:21640451 (GRCh37)
Canonical SPDI:: NC_000024.10:19478564:G:T
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000024.10:g.19478565G>T, NC_000024.9:g.21640451G>T

Select item 147508175711.

rs1475081757 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:19474846 (GRCh38)
Y:21636732 (GRCh37)
Canonical SPDI:: NC_000024.10:19474845:T:C
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00042/2 (ALFA)
C=0.00006/2 (GnomAD_exomes)
HGVS:: NC_000024.10:g.19474846T>C, NC_000024.9:g.21636732T>C, NR_002923.2:n.306A>G, NR_033732.1:n.306A>G, NM_173700.1:c.-356A>G, NM_001173413.1:c.-23A>G

Select item 147145608212.

rs1471456082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:19470613 (GRCh38)
Y:21632499 (GRCh37)
Canonical SPDI:: NC_000024.10:19470612:A:G
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000024.10:g.19470613A>G, NC_000024.9:g.21632499A>G

Select item 146894370513.

rs1468943705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:19467280 (GRCh38)
Y:21629166 (GRCh37)
Canonical SPDI:: NC_000024.10:19467279:C:T
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00041/2 (ALFA)
T=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.19467280C>T, NC_000024.9:g.21629166C>T, NR_002923.2:n.847G>A, NR_033732.1:n.847G>A, NM_173700.1:c.186G>A, NM_001173413.1:c.279G>A

Select item 146889258714.

rs1468892587 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: Y:19467109 (GRCh38)
Y:21628996 (GRCh37)
Canonical SPDI:: NC_000024.10:19467109:AA:AAA
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.19467111dup, NC_000024.9:g.21628997dup, NR_002923.2:n.1017dup, NR_033732.1:n.1017dup, NM_173700.1:c.356dup, NM_001173413.1:c.449dup

Select item 146731930515.

rs1467319305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:19466917 (GRCh38)
Y:21628803 (GRCh37)
Canonical SPDI:: NC_000024.10:19466916:A:G
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000024.10:g.19466917A>G, NC_000024.9:g.21628803A>G, NR_002923.2:n.1210T>C, NR_033732.1:n.1210T>C, NM_173700.1:c.*111T>C

Select item 146142282016.

rs1461422820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:19467332 (GRCh38)
Y:21629218 (GRCh37)
Canonical SPDI:: NC_000024.10:19467331:C:G
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.19467332C>G, NC_000024.9:g.21629218C>G, NR_002923.2:n.795G>C, NR_033732.1:n.795G>C, NM_173700.1:c.134G>C, NM_001173413.1:c.227G>C

Select item 144575054317.

rs1445750543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:19472266 (GRCh38)
Y:21634152 (GRCh37)
Canonical SPDI:: NC_000024.10:19472265:C:T
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (SGDP_PRJ)
T=0.1493/246 (KOREAN)
HGVS:: NC_000024.10:g.19472266C>T, NC_000024.9:g.21634152C>T

Select item 144538740318.

rs1445387403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:19472105 (GRCh38)
Y:21633991 (GRCh37)
Canonical SPDI:: NC_000024.10:19472104:C:G
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (SGDP_PRJ)
G=0.1272/203 (KOREAN)
HGVS:: NC_000024.10:g.19472105C>G, NC_000024.9:g.21633991C>G

Select item 144128540119.

rs1441285401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: Y:19465380 (GRCh38)
Y:21627266 (GRCh37)
Canonical SPDI:: NC_000024.10:19465379:A:G
Gene:: BCORP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00006/2 (GnomAD)
HGVS:: NC_000024.10:g.19465380A>G, NC_000024.9:g.21627266A>G

Select item 144103911320.

rs1441039113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:19466998 (GRCh38)
Y:21628884 (GRCh37)
Canonical SPDI:: NC_000024.10:19466997:G:A
Gene:: BCORP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000024.10:g.19466998G>A, NC_000024.9:g.21628884G>A, NR_002923.2:n.1129C>T, NR_033732.1:n.1129C>T, NM_173700.1:c.*30C>T, NM_001173413.1:c.*30C>T

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