SNP Links for Gene (Select 641517) - SNP

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Select item 14913566611.

rs1491356661 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:7315514 (GRCh38)
8:7173036 (GRCh37)
Canonical SPDI:: NC_000008.11:7315512:AGA:A
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7315514_7315515del, NC_000008.10:g.7173036_7173037del, NW_018654717.1:g.5593048_5593049del, NT_187570.1:g.6635_6636del

Select item 14913057872.

rs1491305787 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:7315496 (GRCh38)
8:7173018 (GRCh37)
Canonical SPDI:: NC_000008.11:7315495:CA:
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00236/28 (ALFA)
HGVS:: NC_000008.11:g.7315496_7315497del, NC_000008.10:g.7173018_7173019del, NW_018654717.1:g.5593067_5593068del, NT_187570.1:g.6617_6618del

Select item 14908239873.

rs1490823987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7317519 (GRCh38)
8:7175041 (GRCh37)
Canonical SPDI:: NC_000008.11:7317518:G:A
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.7317519G>A, NC_000008.10:g.7175041G>A, NW_018654717.1:g.5590983C>T, NT_187570.1:g.8677G>A

Select item 14907972134.

rs1490797213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:7311026 (GRCh38)
8:7168548 (GRCh37)
Canonical SPDI:: NC_000008.11:7311025:T:A,NC_000008.11:7311025:T:C
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7311026T>A, NC_000008.11:g.7311026T>C, NC_000008.10:g.7168548T>A, NC_000008.10:g.7168548T>C, NW_018654717.1:g.5597519A>T, NW_018654717.1:g.5597519A>G, NT_187570.1:g.2169T>A, NT_187570.1:g.2169T>C

Select item 14907464445.

rs1490746444 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 8:7316631 (GRCh38)
8:7174153 (GRCh37)
Canonical SPDI:: NC_000008.11:7316628:TTGTT:TT
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.7316631_7316633del, NC_000008.10:g.7174153_7174155del, NW_018654717.1:g.5591872_5591874del, NT_187570.1:g.7794T>G, NT_187570.1:g.7805_7807del

Select item 14903733696.

rs1490373369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7312654 (GRCh38)
8:7170176 (GRCh37)
Canonical SPDI:: NC_000008.11:7312653:C:T
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.7312654C>T, NC_000008.10:g.7170176C>T, NW_018654717.1:g.5595899G>A, NT_187570.1:g.3789C>T

Select item 14903687777.

rs1490368777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:7312101 (GRCh38)
8:7169623 (GRCh37)
Canonical SPDI:: NC_000008.11:7312100:G:A,NC_000008.11:7312100:G:C,NC_000008.11:7312100:G:T
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7312101G>A, NC_000008.11:g.7312101G>C, NC_000008.11:g.7312101G>T, NC_000008.10:g.7169623G>A, NC_000008.10:g.7169623G>C, NC_000008.10:g.7169623G>T, NW_018654717.1:g.5596452C>T, NW_018654717.1:g.5596452C>G, NW_018654717.1:g.5596452C>A, NT_187570.1:g.3236G>A, NT_187570.1:g.3236G>C, NT_187570.1:g.3236G>T

Select item 14903369068.

rs1490336906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7313325 (GRCh38)
8:7170847 (GRCh37)
Canonical SPDI:: NC_000008.11:7313324:A:C
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00025/3 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.7313325A>C, NC_000008.10:g.7170847A>C, NW_018654717.1:g.5595228G>T, NT_187570.1:g.4460C>A

Select item 14903049109.

rs1490304910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:7312301 (GRCh38)
8:7169823 (GRCh37)
Canonical SPDI:: NC_000008.11:7312300:G:A,NC_000008.11:7312300:G:T
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000031/4 (GnomAD)
HGVS:: NC_000008.11:g.7312301G>A, NC_000008.11:g.7312301G>T, NC_000008.10:g.7169823G>A, NC_000008.10:g.7169823G>T, NW_018654717.1:g.5596252C>T, NW_018654717.1:g.5596252C>A, NT_187570.1:g.3436G>A, NT_187570.1:g.3436G>T

Select item 148997581710.

rs1489975817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:7316836 (GRCh38)
8:7174358 (GRCh37)
Canonical SPDI:: NC_000008.11:7316835:T:A
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7316836T>A, NC_000008.10:g.7174358T>A, NW_018654717.1:g.5591667A>T, NT_187570.1:g.7994T>A

Select item 148993021411.

rs1489930214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:7316304 (GRCh38)
8:7173826 (GRCh37)
Canonical SPDI:: NC_000008.11:7316303:T:A
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7316304T>A, NC_000008.10:g.7173826T>A, NW_018654717.1:g.5592203A>T, NT_187570.1:g.7476T>A

Select item 148984792012.

rs1489847920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:7314122 (GRCh38)
8:7171644 (GRCh37)
Canonical SPDI:: NC_000008.11:7314121:C:A,NC_000008.11:7314121:C:T
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00012/1 (GnomAD)
HGVS:: NC_000008.11:g.7314122C>A, NC_000008.11:g.7314122C>T, NC_000008.10:g.7171644C>A, NC_000008.10:g.7171644C>T, NW_018654717.1:g.5594422T>G, NW_018654717.1:g.5594422T>A, NT_187570.1:g.5266C>A, NT_187570.1:g.5266C>T

Select item 148940924313.

rs1489409243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7315648 (GRCh38)
8:7173170 (GRCh37)
Canonical SPDI:: NC_000008.11:7315647:A:G
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000017/2 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000008.11:g.7315648A>G, NC_000008.10:g.7173170A>G, NW_018654717.1:g.5592860T>C, NT_187570.1:g.6820A>G

Select item 148938243314.

rs1489382433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7315091 (GRCh38)
8:7172613 (GRCh37)
Canonical SPDI:: NC_000008.11:7315090:C:T
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
T=0.00016/6 (GnomAD)
HGVS:: NC_000008.11:g.7315091C>T, NC_000008.10:g.7172613C>T, NW_018654717.1:g.5593488G>A, NT_187570.1:g.6199C>T

Select item 148925692715.

rs1489256927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7318905 (GRCh38)
8:7176427 (GRCh37)
Canonical SPDI:: NC_000008.11:7318904:A:G
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000337/4 (ALFA)
G=0.000736/99 (GnomAD)
G=0.001093/7 (1000Genomes)
HGVS:: NC_000008.11:g.7318905A>G, NC_000008.10:g.7176427A>G, NW_018654717.1:g.5589597T>C, NT_187570.1:g.10060A>G

Select item 148922700616.

rs1489227006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:7315858 (GRCh38)
8:7173380 (GRCh37)
Canonical SPDI:: NC_000008.11:7315857:G:A,NC_000008.11:7315857:G:C,NC_000008.11:7315857:G:T
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000031/4 (GnomAD)
HGVS:: NC_000008.11:g.7315858G>A, NC_000008.11:g.7315858G>C, NC_000008.11:g.7315858G>T, NC_000008.10:g.7173380G>A, NC_000008.10:g.7173380G>C, NC_000008.10:g.7173380G>T, NW_018654717.1:g.5592651C>T, NW_018654717.1:g.5592651C>G, NW_018654717.1:g.5592651C>A, NT_187570.1:g.7029G>A, NT_187570.1:g.7029G>C, NT_187570.1:g.7029G>T

Select item 148917380817.

rs1489173808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:7320143 (GRCh38)
8:7177665 (GRCh37)
Canonical SPDI:: NC_000008.11:7320142:T:G
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00064/9 (ALFA)
HGVS:: NC_000008.11:g.7320143T>G, NC_000008.10:g.7177665T>G, NW_018654717.1:g.5588366A>C, NT_187570.1:g.11296T>G

Select item 148909233518.

rs1489092335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7319236 (GRCh38)
8:7176758 (GRCh37)
Canonical SPDI:: NC_000008.11:7319235:A:C
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000008.11:g.7319236A>C, NC_000008.10:g.7176758A>C, NW_018654717.1:g.5589268T>G, NT_187570.1:g.10390A>C

Select item 148847988119.

rs1488479881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7320236 (GRCh38)
8:7177758 (GRCh37)
Canonical SPDI:: NC_000008.11:7320235:T:C
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00873/79 (TOMMO)
C=0.01272/16 (KOREAN)
HGVS:: NC_000008.11:g.7320236T>C, NC_000008.10:g.7177758T>C, NW_018654717.1:g.5588273G>A, NT_187570.1:g.11389T>C

Select item 148842399620.

rs1488423996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7315919 (GRCh38)
8:7173441 (GRCh37)
Canonical SPDI:: NC_000008.11:7315918:A:G
Gene:: DEFB109B (Varview), FAM66B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7315919A>G, NC_000008.10:g.7173441A>G, NW_018654717.1:g.5592589T>C, NT_187570.1:g.7091A>G

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