SNP Links for Gene (Select 728358) - SNP

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Select item 14904478021.

rs1490447802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:6999416 (GRCh38)
8:6856938 (GRCh37)
Canonical SPDI:: NC_000008.11:6999415:T:C
Gene:: DEFA1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000017/2 (GnomAD)
HGVS:: NC_000008.11:g.6999416T>C, NC_000008.10:g.6856938T>C, NW_018654717.1:g.394536T>C

Select item 14904238002.

rs1490423800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:6998636 (GRCh38)
8:6856158 (GRCh37)
Canonical SPDI:: NC_000008.11:6998635:G:A
Gene:: DEFA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00009/2 (GnomAD)
HGVS:: NC_000008.11:g.6998636G>A, NC_000008.10:g.6856158G>A, NW_018654717.1:g.393749G>A

Select item 14899451993.

rs1489945199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:6999032 (GRCh38)
8:6856554 (GRCh37)
Canonical SPDI:: NC_000008.11:6999031:C:G,NC_000008.11:6999031:C:T
Gene:: DEFA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.6999032C>G, NC_000008.11:g.6999032C>T, NC_000008.10:g.6856554C>G, NC_000008.10:g.6856554C>T, NW_018654717.1:g.394152C>G, NW_018654717.1:g.394152C>T

Select item 14895905394.

rs1489590539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:6999802 (GRCh38)
8:6857324 (GRCh37)
Canonical SPDI:: NC_000008.11:6999801:G:C,NC_000008.11:6999801:G:T
Gene:: DEFA1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/3 (GnomAD)
HGVS:: NC_000008.11:g.6999802G>C, NC_000008.11:g.6999802G>T, NC_000008.10:g.6857324G>C, NC_000008.10:g.6857324G>T, NW_018654717.1:g.394922G>C, NW_018654717.1:g.394922G>T

Select item 14886436465.

rs1488643646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:6999978 (GRCh38)
8:6857500 (GRCh37)
Canonical SPDI:: NC_000008.11:6999977:G:C,NC_000008.11:6999977:G:T
Gene:: DEFA1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.00016/11 (GnomAD)
HGVS:: NC_000008.11:g.6999978G>C, NC_000008.11:g.6999978G>T, NC_000008.10:g.6857500G>C, NC_000008.10:g.6857500G>T, NW_018654717.1:g.395098G>C, NW_018654717.1:g.395098G>T

Select item 14878207836.

rs1487820783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:6999688 (GRCh38)
8:6857210 (GRCh37)
Canonical SPDI:: NC_000008.11:6999687:A:G,NC_000008.11:6999687:A:T
Gene:: DEFA1B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/4 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.6999688A>G, NC_000008.11:g.6999688A>T, NC_000008.10:g.6857210A>G, NC_000008.10:g.6857210A>T, NW_018654717.1:g.394808A>G, NW_018654717.1:g.394808A>T

Select item 14856038077.

rs1485603807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:7000150 (GRCh38)
8:6857672 (GRCh37)
Canonical SPDI:: NC_000008.11:7000149:G:C
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00125/8 (1000Genomes)
C=0.0136/25 (KOREAN)
C=0.01523/180 (TOMMO)
HGVS:: NC_000008.11:g.7000150G>C, NC_000008.10:g.6857672G>C, NW_018654717.1:g.395270G>C

Select item 14853691958.

rs1485369195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:6998842 (GRCh38)
8:6856364 (GRCh37)
Canonical SPDI:: NC_000008.11:6998841:C:A
Gene:: DEFA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
A=0.00008/8 (GnomAD)
HGVS:: NC_000008.11:g.6998842C>A, NC_000008.10:g.6856364C>A, NW_018654717.1:g.393955C>A

Select item 14843904469.

rs1484390446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:6999432 (GRCh38)
8:6856954 (GRCh37)
Canonical SPDI:: NC_000008.11:6999431:C:T
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.6999432C>T, NC_000008.10:g.6856954C>T, NW_018654717.1:g.394552C>T

Select item 148391070610.

rs1483910706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:6999990 (GRCh38)
8:6857512 (GRCh37)
Canonical SPDI:: NC_000008.11:6999989:A:G
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00007/1 (TOMMO)
HGVS:: NC_000008.11:g.6999990A>G, NC_000008.10:g.6857512A>G, NW_018654717.1:g.395110A>G

Select item 148287377411.

rs1482873774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:6998992 (GRCh38)
8:6856514 (GRCh37)
Canonical SPDI:: NC_000008.11:6998991:C:T
Gene:: DEFA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.6998992C>T, NC_000008.10:g.6856514C>T, NW_018654717.1:g.394112C>T

Select item 148102087812.

rs1481020878 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:6998931 (GRCh38)
8:6856453 (GRCh37)
Canonical SPDI:: NC_000008.11:6998930:A:T
Gene:: DEFA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.6998931A>T, NC_000008.10:g.6856453A>T, NW_018654717.1:g.394051A>T

Select item 148058016613.

rs1480580166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:6999483 (GRCh38)
8:6857005 (GRCh37)
Canonical SPDI:: NC_000008.11:6999482:C:G
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.6999483C>G, NC_000008.10:g.6857005C>G, NW_018654717.1:g.394603C>G

Select item 148056578214.

rs1480565782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7001074 (GRCh38)
8:6858596 (GRCh37)
Canonical SPDI:: NC_000008.11:7001073:A:C
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7001074A>C, NC_000008.10:g.6858596A>C, NW_018654717.1:g.396194A>C

Select item 147985090215.

rs1479850902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7000306 (GRCh38)
8:6857828 (GRCh37)
Canonical SPDI:: NC_000008.11:7000305:C:T
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.04544/539 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00035/2 (TOMMO)
HGVS:: NC_000008.11:g.7000306C>T, NC_000008.10:g.6857828C>T, NW_018654717.1:g.395426T>C

Select item 147892913716.

rs1478929137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:6999467 (GRCh38)
8:6856989 (GRCh37)
Canonical SPDI:: NC_000008.11:6999466:G:T
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000017/2 (GnomAD)
HGVS:: NC_000008.11:g.6999467G>T, NC_000008.10:g.6856989G>T, NW_018654717.1:g.394587G>T

Select item 147806075917.

rs1478060759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:7001083 (GRCh38)
8:6858605 (GRCh37)
Canonical SPDI:: NC_000008.11:7001082:C:A,NC_000008.11:7001082:C:G
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00007/3 (GnomAD)
HGVS:: NC_000008.11:g.7001083C>A, NC_000008.11:g.7001083C>G, NC_000008.10:g.6858605C>A, NC_000008.10:g.6858605C>G, NW_018654717.1:g.396203C>A, NW_018654717.1:g.396203C>G

Select item 147759457218.

rs1477594572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:6999490 (GRCh38)
8:6857012 (GRCh37)
Canonical SPDI:: NC_000008.11:6999489:A:G
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.6999490A>G, NC_000008.10:g.6857012A>G, NW_018654717.1:g.394610A>G

Select item 147718627519.

rs1477186275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:6999112 (GRCh38)
8:6856634 (GRCh37)
Canonical SPDI:: NC_000008.11:6999111:G:A
Gene:: DEFA1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00023/21 (GnomAD)
HGVS:: NC_000008.11:g.6999112G>A, NC_000008.10:g.6856634G>A, NW_018654717.1:g.394232G>A

Select item 147656301720.

rs1476563017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:6999222 (GRCh38)
8:6856744 (GRCh37)
Canonical SPDI:: NC_000008.11:6999221:C:G
Gene:: DEFA1B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.6999222C>G, NC_000008.10:g.6856744C>G, NW_018654717.1:g.394342C>G

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