SNP Links for Gene (Select 27154) - SNP

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Items: 1 to 20 of 8455

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Select item 14915203541.

rs1491520354 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:36196004 (GRCh38)
6:36163781 (GRCh37)
Canonical SPDI:: NC_000006.12:36196003:TA:
Gene:: BRPF3 (Varview), BRPF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000759/9 (ALFA)
-=0.000625/4 (1000Genomes)
-=0.00223/276 (GnomAD)
-=0.002442/40 (TOMMO)
-=0.100983/185 (Korea1K)
HGVS:: NC_000006.12:g.36196004_36196005del, NC_000006.11:g.36163781_36163782del

Select item 14914959212.

rs1491495921 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:36221280 (GRCh38)
6:36189058 (GRCh37)
Canonical SPDI:: NC_000006.12:36221280:CTTTTTTTTTTTTTTTTTTTTTTTT:CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BRPF3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT=0.0002/1 (ALFA)
HGVS:: NC_000006.12:g.36221305_36221306insTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.36189082_36189083insTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914759643.

rs1491475964 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:36212571 (GRCh38)
6:36180349 (GRCh37)
Canonical SPDI:: NC_000006.12:36212571:G:GG
Gene:: BRPF3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.36212572dup, NC_000006.11:g.36180349dup

Select item 14914202124.

rs1491420212 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 6:36202411 (GRCh38)
6:36170189 (GRCh37)
Canonical SPDI:: NC_000006.12:36202411::A,NC_000006.12:36202411::G,NC_000006.12:36202411::T
Gene:: BRPF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.36202411_36202412insA, NC_000006.12:g.36202411_36202412insG, NC_000006.12:g.36202411_36202412insT, NC_000006.11:g.36170188_36170189insA, NC_000006.11:g.36170188_36170189insG, NC_000006.11:g.36170188_36170189insT

Select item 14914181275.

rs1491418127 has merged into rs113889420 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 6:36197204 (GRCh38)
6:36164981 (GRCh37)
Canonical SPDI:: NC_000006.12:36197197:CCCCCCCC:CCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCCCCC,NC_000006.12:36197197:CCCCCCCC:CCCCCCCCCCC
Gene:: BRPF3 (Varview), BRPF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCC=0./0 (ALFA)
-=0.000023/6 (TOPMED)
C=0.073529/5 (1000Genomes)
HGVS:: NC_000006.12:g.36197204_36197205del, NC_000006.12:g.36197205del, NC_000006.12:g.36197205dup, NC_000006.12:g.36197204_36197205dup, NC_000006.12:g.36197203_36197205dup, NC_000006.11:g.36164981_36164982del, NC_000006.11:g.36164982del, NC_000006.11:g.36164982dup, NC_000006.11:g.36164981_36164982dup, NC_000006.11:g.36164980_36164982dup

Select item 14912491216.

rs1491249121 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 6:36197666 (GRCh38)
6:36165443 (GRCh37)
Canonical SPDI:: NC_000006.12:36197660:GGGGGGG:GGGGG,NC_000006.12:36197660:GGGGGGG:GGGGGG,NC_000006.12:36197660:GGGGGGG:GGGGGGGG
Gene:: BRPF3 (Varview), BRPF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000062/1 (GnomAD)
HGVS:: NC_000006.12:g.36197666_36197667del, NC_000006.12:g.36197667del, NC_000006.12:g.36197667dup, NC_000006.11:g.36165443_36165444del, NC_000006.11:g.36165444del, NC_000006.11:g.36165444dup

Select item 14911456267.

rs1491145626 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:36212572 (GRCh38)
6:36180349 (GRCh37)
Canonical SPDI:: NC_000006.12:36212570:AGA:A
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00014/4 (TOMMO)
HGVS:: NC_000006.12:g.36212572_36212573del, NC_000006.11:g.36180349_36180350del

Select item 14911168858.

rs1491116885 has merged into rs142875258 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 6:36196007 (GRCh38)
6:36163784 (GRCh37)
Canonical SPDI:: NC_000006.12:36196004:AAAA:AA,NC_000006.12:36196004:AAAA:AAA,NC_000006.12:36196004:AAAA:AAAAA
Gene:: BRPF3 (Varview), BRPF3-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0.15089/1530 (ALFA)
-=0.00519/20 (ALSPAC)
-=0.25/10 (GENOME_DK)
-=0.32274/193 (NorthernSweden)
A=0.33884/5677 (TOMMO)
A=0.38359/1921 (1000Genomes)
HGVS:: NC_000006.12:g.36196007_36196008del, NC_000006.12:g.36196008del, NC_000006.12:g.36196008dup, NC_000006.11:g.36163784_36163785del, NC_000006.11:g.36163785del, NC_000006.11:g.36163785dup

Select item 14908683339.

rs1490868333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36232131 (GRCh38)
6:36199908 (GRCh37)
Canonical SPDI:: NC_000006.12:36232130:C:T
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36232131C>T, NC_000006.11:g.36199908C>T, NM_015695.3:c.*1522C>T, NM_015695.2:c.*1522C>T, XM_011514490.2:c.*2272C>T, XM_011514491.2:c.*1589C>T, XM_011514491.1:c.*1589C>T, XM_047418649.1:c.*1522C>T, XM_047418650.1:c.*1522C>T

Select item 149086332710.

rs1490863327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:36194864 (GRCh38)
6:36162641 (GRCh37)
Canonical SPDI:: NC_000006.12:36194863:T:C
Gene:: BRPF3 (Varview), BRPF3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.36194864T>C, NC_000006.11:g.36162641T>C

Select item 149084033611.

rs1490840336 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGTAAAATACCT>- [Show Flanks]
Chromosome:: 6:36209421 (GRCh38)
6:36177198 (GRCh37)
Canonical SPDI:: NC_000006.12:36209418:CTTTGTAAAATACCT:CT
Gene:: BRPF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.36209421_36209433del, NC_000006.11:g.36177198_36177210del

Select item 149079867212.

rs1490798672 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:36212137 (GRCh38)
6:36179914 (GRCh37)
Canonical SPDI:: NC_000006.12:36212136:G:
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36212137del, NC_000006.11:g.36179914del

Select item 149078470313.

rs1490784703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36226655 (GRCh38)
6:36194432 (GRCh37)
Canonical SPDI:: NC_000006.12:36226654:A:G
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36226655A>G, NC_000006.11:g.36194432A>G

Select item 149075134014.

rs1490751340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36227921 (GRCh38)
6:36195698 (GRCh37)
Canonical SPDI:: NC_000006.12:36227920:C:T
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.36227921C>T, NC_000006.11:g.36195698C>T

Select item 149063143915.

rs1490631439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:36212865 (GRCh38)
6:36180642 (GRCh37)
Canonical SPDI:: NC_000006.12:36212864:A:C
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36212865A>C, NC_000006.11:g.36180642A>C

Select item 149038973816.

rs1490389738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:36218896 (GRCh38)
6:36186673 (GRCh37)
Canonical SPDI:: NC_000006.12:36218895:A:G
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.36218896A>G, NC_000006.11:g.36186673A>G

Select item 149035749017.

rs1490357490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:36210949 (GRCh38)
6:36178726 (GRCh37)
Canonical SPDI:: NC_000006.12:36210948:C:T
Gene:: BRPF3 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000006.12:g.36210949C>T, NC_000006.11:g.36178726C>T

Select item 149035435318.

rs1490354353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36218741 (GRCh38)
6:36186518 (GRCh37)
Canonical SPDI:: NC_000006.12:36218740:G:A
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.36218741G>A, NC_000006.11:g.36186518G>A

Select item 149019353819.

rs1490193538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:36212097 (GRCh38)
6:36179874 (GRCh37)
Canonical SPDI:: NC_000006.12:36212096:G:A
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.36212097G>A, NC_000006.11:g.36179874G>A

Select item 149015997720.

rs1490159977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:36230738 (GRCh38)
6:36198515 (GRCh37)
Canonical SPDI:: NC_000006.12:36230737:C:G
Gene:: BRPF3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.36230738C>G, NC_000006.11:g.36198515C>G, NM_015695.3:c.*129C>G, NM_015695.2:c.*129C>G, XM_011514490.2:c.*879C>G, XM_011514491.2:c.*196C>G, XM_011514491.1:c.*196C>G, XM_047418649.1:c.*129C>G, XM_047418650.1:c.*129C>G

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