SNP Links for Gene (Select 504180) - SNP

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Select item 14894974781.

rs1489497478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7487204 (GRCh38)
8:7344726 (GRCh37)
Canonical SPDI:: NC_000008.11:7487203:G:A
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7487204G>A, NC_000008.10:g.7344726G>A, NW_018654717.1:g.5421609C>T, NT_187570.1:g.170309G>A

Select item 14893891242.

rs1489389124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:7489575 (GRCh38)
8:7347097 (GRCh37)
Canonical SPDI:: NC_000008.11:7489574:G:C
Gene:: DEFB105B (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000008.11:g.7489575G>C, NC_000008.10:g.7347097G>C, NW_018654717.1:g.5419238C>G, NT_187570.1:g.172678G>C, NM_001040703.3:c.*24G>C, NM_001040703.2:c.*24G>C, NM_152250.2:c.*24G>C, NM_152250.3:c.*24G>C

Select item 14887338133.

rs1488733813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7486184 (GRCh38)
8:7343706 (GRCh37)
Canonical SPDI:: NC_000008.11:7486183:A:G
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.7486184A>G, NC_000008.10:g.7343706A>G, NW_018654717.1:g.5422629T>C, NT_187570.1:g.169289A>G

Select item 14887065144.

rs1488706514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:7487124 (GRCh38)
8:7344646 (GRCh37)
Canonical SPDI:: NC_000008.11:7487123:G:T
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000008.11:g.7487124G>T, NC_000008.10:g.7344646G>T, NW_018654717.1:g.5421689C>A, NT_187570.1:g.170229G>T

Select item 14878619605.

rs1487861960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7486956 (GRCh38)
8:7344478 (GRCh37)
Canonical SPDI:: NC_000008.11:7486955:A:G
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.7486956A>G, NC_000008.10:g.7344478A>G, NW_018654717.1:g.5421857T>C, NT_187570.1:g.170061A>G

Select item 14877051946.

rs1487705194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:7487129 (GRCh38)
8:7344651 (GRCh37)
Canonical SPDI:: NC_000008.11:7487128:C:A,NC_000008.11:7487128:C:T
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000008.11:g.7487129C>A, NC_000008.11:g.7487129C>T, NC_000008.10:g.7344651C>A, NC_000008.10:g.7344651C>T, NW_018654717.1:g.5421684G>T, NW_018654717.1:g.5421684G>A, NT_187570.1:g.170234C>A, NT_187570.1:g.170234C>T

Select item 14862878477.

rs1486287847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7487225 (GRCh38)
8:7344747 (GRCh37)
Canonical SPDI:: NC_000008.11:7487224:A:G
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7487225A>G, NC_000008.10:g.7344747A>G, NW_018654717.1:g.5421588T>C, NT_187570.1:g.170330A>G

Select item 14862287558.

rs1486228755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:7486575 (GRCh38)
8:7344097 (GRCh37)
Canonical SPDI:: NC_000008.11:7486574:T:A
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.7486575T>A, NC_000008.10:g.7344097T>A, NW_018654717.1:g.5422238A>T, NT_187570.1:g.169680T>A

Select item 14848742039.

rs1484874203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7489449 (GRCh38)
8:7346971 (GRCh37)
Canonical SPDI:: NC_000008.11:7489448:G:A
Gene:: DEFB105B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.0002/10 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7489449G>A, NC_000008.10:g.7346971G>A, NW_018654717.1:g.5419364C>T, NT_187570.1:g.172552G>A, NM_001040703.3:c.135G>A, NM_001040703.2:c.135G>A, NM_001040703.1:c.135G>A, NM_152250.2:c.135G>A, NM_152250.3:c.135G>A, NM_152250.1:c.135G>A

Select item 148392810110.

rs1483928101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:7486515 (GRCh38)
8:7344037 (GRCh37)
Canonical SPDI:: NC_000008.11:7486514:C:A,NC_000008.11:7486514:C:T
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00312/20 (1000Genomes)
HGVS:: NC_000008.11:g.7486515C>A, NC_000008.11:g.7486515C>T, NC_000008.10:g.7344037C>A, NC_000008.10:g.7344037C>T, NW_018654717.1:g.5422298G>T, NW_018654717.1:g.5422298G>A, NT_187570.1:g.169620C>A, NT_187570.1:g.169620C>T

Select item 148377671811.

rs1483776718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:7486003 (GRCh38)
8:7343525 (GRCh37)
Canonical SPDI:: NC_000008.11:7486002:T:A
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000034/4 (GnomAD)
HGVS:: NC_000008.11:g.7486003T>A, NC_000008.10:g.7343525T>A, NW_018654717.1:g.5422810A>T, NT_187570.1:g.169108T>A

Select item 148306787112.

rs1483067871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7485797 (GRCh38)
8:7343319 (GRCh37)
Canonical SPDI:: NC_000008.11:7485796:C:T
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7485797C>T, NC_000008.10:g.7343319C>T, NW_018654717.1:g.5423016G>A, NT_187570.1:g.168902C>T

Select item 148299669813.

rs1482996698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7487308 (GRCh38)
8:7344830 (GRCh37)
Canonical SPDI:: NC_000008.11:7487307:A:G
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7487308A>G, NC_000008.10:g.7344830A>G, NW_018654717.1:g.5421505T>C, NT_187570.1:g.170413A>G

Select item 148220168414.

rs1482201684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7487012 (GRCh38)
8:7344534 (GRCh37)
Canonical SPDI:: NC_000008.11:7487011:G:A
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000008.11:g.7487012G>A, NC_000008.10:g.7344534G>A, NW_018654717.1:g.5421801C>T, NT_187570.1:g.170117G>A

Select item 148155335815.

rs1481553358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7486968 (GRCh38)
8:7344490 (GRCh37)
Canonical SPDI:: NC_000008.11:7486967:C:T
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000008.11:g.7486968C>T, NC_000008.10:g.7344490C>T, NW_018654717.1:g.5421845G>A, NT_187570.1:g.170073C>T

Select item 148154146216.

rs1481541462 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:7489859 (GRCh38)
8:7347381 (GRCh37)
Canonical SPDI:: NC_000008.11:7489858:T:G
Gene:: DEFB105B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7489859T>G, NC_000008.10:g.7347381T>G, NW_018654717.1:g.5418953A>C, NT_187570.1:g.172962T>G

Select item 147972173717.

rs1479721737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7486723 (GRCh38)
8:7344245 (GRCh37)
Canonical SPDI:: NC_000008.11:7486722:T:C
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7486723T>C, NC_000008.10:g.7344245T>C, NW_018654717.1:g.5422090A>G, NT_187570.1:g.169828T>C

Select item 147910249318.

rs1479102493 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:7489717 (GRCh38)
8:7347239 (GRCh37)
Canonical SPDI:: NC_000008.11:7489716:TTTTTTT:TTTTTT
Gene:: DEFB105B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000008.11:g.7489723del, NC_000008.10:g.7347245del, NW_018654717.1:g.5419096del, NT_187570.1:g.172826del

Select item 147900612019.

rs1479006120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:7487280 (GRCh38)
8:7344802 (GRCh37)
Canonical SPDI:: NC_000008.11:7487279:G:C
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7487280G>C, NC_000008.10:g.7344802G>C, NW_018654717.1:g.5421533C>G, NT_187570.1:g.170385G>C

Select item 147818551520.

rs1478185515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7487013 (GRCh38)
8:7344535 (GRCh37)
Canonical SPDI:: NC_000008.11:7487012:C:T
Gene:: DEFB106B (Varview), DEFB105B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000061/1 (ALFA)
T=0.000257/36 (GnomAD)
HGVS:: NC_000008.11:g.7487013C>T, NC_000008.10:g.7344535C>T, NW_018654717.1:g.5421800G>A, NT_187570.1:g.170118C>T

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