SNP Links for Gene (Select 642658) - SNP

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Items: 1 to 20 of 1726

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Select item 14912505101.

rs1491250510 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:144263946 (GRCh38)
8:145318849 (GRCh37)
Canonical SPDI:: NC_000008.11:144263945:CT:
Gene:: BOP1 (Varview), MIR7112 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144263946_144263947del, NC_000008.10:g.145318849_145318850del, NW_003315924.1:g.33205_33206del

Select item 14911735902.

rs1491173590 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGGTGTGCCACCCCC>-,CTGGTGTGCCACCCCCCTGGTGTGCCACCCCC [Show Flanks]
Chromosome:: 8:144263959 (GRCh38)
8:145318862 (GRCh37)
Canonical SPDI:: NC_000008.11:144263946:TGTGCCACCCCCCTGGTGTGCCACCCCC:TGTGCCACCCCC,NC_000008.11:144263946:TGTGCCACCCCCCTGGTGTGCCACCCCC:TGTGCCACCCCCCTGGTGTGCCACCCCCCTGGTGTGCCACCCCC
Gene:: BOP1 (Varview), MIR7112 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGCCACCCCCCTGGTGTGCCACCCCCCTGGTGTGCCACCCCC=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144263959_144263974del, NC_000008.11:g.144263959_144263974dup, NC_000008.10:g.145318862_145318877del, NC_000008.10:g.145318862_145318877dup, NW_003315924.1:g.33218_33233del, NW_003315924.1:g.33218_33233dup

Select item 14908691073.

rs1490869107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:144266305 (GRCh38)
8:145321208 (GRCh37)
Canonical SPDI:: NC_000008.11:144266304:C:A,NC_000008.11:144266304:C:G
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144266305C>A, NC_000008.11:g.144266305C>G, NC_000008.10:g.145321208C>A, NC_000008.10:g.145321208C>G, NW_003315924.1:g.35564C>A, NW_003315924.1:g.35564C>G

Select item 14908439794.

rs1490843979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:144266734 (GRCh38)
8:145321637 (GRCh37)
Canonical SPDI:: NC_000008.11:144266733:C:A
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000008.11:g.144266734C>A, NC_000008.10:g.145321637C>A, NW_003315924.1:g.35993C>A, NM_001080514.3:c.121C>A, NM_001080514.2:c.121C>A, NM_001080514.1:c.121C>A, NM_001008271.1:c.121C>A, NP_001073983.1:p.Arg41Ser

Select item 14896870495.

rs1489687049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144265029 (GRCh38)
8:145319932 (GRCh37)
Canonical SPDI:: NC_000008.11:144265028:C:T
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144265029C>T, NC_000008.10:g.145319932C>T, NW_003315924.1:g.34288C>T, NM_015201.5:c.433G>A, NM_015201.4:c.433G>A, NM_015201.3:c.433G>A, NP_056016.1:p.Asp145Asn

Select item 14896121836.

rs1489612183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144267079 (GRCh38)
8:145321982 (GRCh37)
Canonical SPDI:: NC_000008.11:144267078:G:A
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000008.11:g.144267079G>A, NC_000008.10:g.145321982G>A, NW_003315924.1:g.36338G>A, NM_001080514.3:c.466G>A, NM_001080514.2:c.466G>A, NM_001080514.1:c.466G>A, NM_001008271.1:c.466G>A, NP_001073983.1:p.Gly156Ser

Select item 14894151117.

rs1489415111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144263303 (GRCh38)
8:145318206 (GRCh37)
Canonical SPDI:: NC_000008.11:144263302:G:C
Gene:: BOP1 (Varview), MIR7112 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_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_000008.11:g.144263303G>C, NC_000008.10:g.145318206G>C, NW_003315924.1:g.32562G>C, NM_015201.5:c.1523C>G, NM_015201.4:c.1523C>G, NM_015201.3:c.1523C>G, NP_056016.1:p.Pro508Arg

Select item 14890413348.

rs1489041334 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCC,GCCGCC,GCCGCCGCC [Show Flanks]
Chromosome:: 8:144267087 (GRCh38)
8:145321991 (GRCh37)
Canonical SPDI:: NC_000008.11:144267087:CCGCCGCCGCC:CCGCCGCCGCCGCC,NC_000008.11:144267087:CCGCCGCCGCC:CCGCCGCCGCCGCCGCC,NC_000008.11:144267087:CCGCCGCCGCC:CCGCCGCCGCCGCCGCCGCC
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGCCGCCGCCGCCGCC=0./0 (ALFA)
HGVS:: NC_000008.11:g.144267090GCC[4], NC_000008.11:g.144267090GCC[5], NC_000008.11:g.144267090GCC[6], NC_000008.10:g.145321993GCC[4], NC_000008.10:g.145321993GCC[5], NC_000008.10:g.145321993GCC[6], NW_003315924.1:g.36349GCC[4], NW_003315924.1:g.36349GCC[5], NW_003315924.1:g.36349GCC[6], NM_001080514.3:c.477GCC[4], NM_001080514.3:c.477GCC[5], NM_001080514.3:c.477GCC[6], NM_001080514.2:c.477GCC[4], NM_001080514.2:c.477GCC[5], NM_001080514.2:c.477GCC[6], NM_001080514.1:c.477GCC[4], NM_001080514.1:c.477GCC[5], NM_001080514.1:c.477GCC[6], NM_001008271.1:c.477GCC[4], NM_001008271.1:c.477GCC[5], NM_001008271.1:c.477GCC[6], NP_001073983.1:p.Pro166dup, NP_001073983.1:p.Pro165_Pro166dup, NP_001073983.1:p.Pro164_Pro166dup

Select item 14889909089.

rs1488990908 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144267654 (GRCh38)
8:145322557 (GRCh37)
Canonical SPDI:: NC_000008.11:144267653:A:G
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000068/18 (TOPMED)
G=0.000086/12 (GnomAD)
HGVS:: NC_000008.11:g.144267654A>G, NC_000008.10:g.145322557A>G, NW_003315924.1:g.36913A>G

Select item 148862878610.

rs1488628786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144267331 (GRCh38)
8:145322234 (GRCh37)
Canonical SPDI:: NC_000008.11:144267330:C:G
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144267331C>G, NC_000008.10:g.145322234C>G, NW_003315924.1:g.36590C>G

Select item 148857919611.

rs1488579196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:144263097 (GRCh38)
8:145318000 (GRCh37)
Canonical SPDI:: NC_000008.11:144263096:G:A,NC_000008.11:144263096:G:C
Gene:: BOP1 (Varview), MIR7112 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.144263097G>A, NC_000008.11:g.144263097G>C, NC_000008.10:g.145318000G>A, NC_000008.10:g.145318000G>C, NW_003315924.1:g.32356G>A, NW_003315924.1:g.32356G>C, NM_015201.5:c.1650C>T, NM_015201.5:c.1650C>G, NM_015201.4:c.1650C>T, NM_015201.4:c.1650C>G, NM_015201.3:c.1650C>T, NM_015201.3:c.1650C>G

Select item 148853051012.

rs1488530510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144267874 (GRCh38)
8:145322777 (GRCh37)
Canonical SPDI:: NC_000008.11:144267873:A:G
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000053/14 (TOPMED)
HGVS:: NC_000008.11:g.144267874A>G, NC_000008.10:g.145322777A>G, NW_003315924.1:g.37133A>G

Select item 148834023813.

rs1488340238 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGACGC>- [Show Flanks]
Chromosome:: 8:144268169 (GRCh38)
8:145323072 (GRCh37)
Canonical SPDI:: NC_000008.11:144268166:GCAGACGC:GC
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.144268169_144268174del, NC_000008.10:g.145323072_145323077del, NW_003315924.1:g.37428_37433del, NM_001080514.3:c.*27_*32del, NM_001080514.2:c.*27_*32del

Select item 148829107014.

rs1488291070 has merged into rs1251330418 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAGGCAGCGGCAGGGACAG>-,GGAGGCAGCGGCAGGGACAGGGAGGCAGCGGCAGGGACAG [Show Flanks]
Chromosome:: 8:144268805 (GRCh38)
8:145323708 (GRCh37)
Canonical SPDI:: NC_000008.11:144268793:GGCAGGGACAGGGAGGCAGCGGCAGGGACAG:GGCAGGGACAG,NC_000008.11:144268793:GGCAGGGACAGGGAGGCAGCGGCAGGGACAG:GGCAGGGACAGGGAGGCAGCGGCAGGGACAGGGAGGCAGCGGCAGGGACAG
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCAGGGACAGGGAGGCAGCGGCAGGGACAGGGAGGCAGCGGCAGGGACAG=0./0 (ALFA)
-=0.000087/23 (TOPMED)
GGCAGGGACAGGGAGGCAGC=0.000312/2 (1000Genomes)
-=0.001848/12 (TOMMO)
HGVS:: NC_000008.11:g.144268805_144268824del, NC_000008.11:g.144268805_144268824dup, NC_000008.10:g.145323708_145323727del, NC_000008.10:g.145323708_145323727dup, NW_003315924.1:g.38064_38083del, NW_003315924.1:g.38064_38083dup

Select item 148793276515.

rs1487932765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144263716 (GRCh38)
8:145318619 (GRCh37)
Canonical SPDI:: NC_000008.11:144263715:G:A
Gene:: BOP1 (Varview), MIR7112 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144263716G>A, NC_000008.10:g.145318619G>A, NW_003315924.1:g.32975G>A, NM_015201.5:c.1267C>T, NM_015201.4:c.1267C>T, NM_015201.3:c.1267C>T, NP_056016.1:p.Pro423Ser

Select item 148793071916.

rs1487930719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144267816 (GRCh38)
8:145322719 (GRCh37)
Canonical SPDI:: NC_000008.11:144267815:C:G
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.144267816C>G, NC_000008.10:g.145322719C>G, NW_003315924.1:g.37075C>G

Select item 148787749917.

rs1487877499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144268375 (GRCh38)
8:145323278 (GRCh37)
Canonical SPDI:: NC_000008.11:144268374:C:T
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.144268375C>T, NC_000008.10:g.145323278C>T, NW_003315924.1:g.37634C>T, NM_001080514.3:c.*233C>T, NM_001080514.2:c.*233C>T

Select item 148759651218.

rs1487596512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144267558 (GRCh38)
8:145322461 (GRCh37)
Canonical SPDI:: NC_000008.11:144267557:G:C
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144267558G>C, NC_000008.10:g.145322461G>C, NW_003315924.1:g.36817G>C

Select item 148729430119.

rs1487294301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144265959 (GRCh38)
8:145320862 (GRCh37)
Canonical SPDI:: NC_000008.11:144265958:G:A
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144265959G>A, NC_000008.10:g.145320862G>A, NW_003315924.1:g.35218G>A

Select item 148724210020.

rs1487242100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144266458 (GRCh38)
8:145321361 (GRCh37)
Canonical SPDI:: NC_000008.11:144266457:G:A
Gene:: BOP1 (Varview), SCX (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000356/5 (ALFA)
A=0.000312/2 (1000Genomes)
A=0.000669/177 (TOPMED)
A=0.000857/119 (GnomAD)
HGVS:: NC_000008.11:g.144266458G>A, NC_000008.10:g.145321361G>A, NW_003315924.1:g.35717G>A, NM_001080514.3:c.-156G>A

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