SNP Links for Gene (Select 245927) - SNP

Links from Gene

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Select item 14896608441.

rs1489660844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49969718 (GRCh38)
6:49937431 (GRCh37)
Canonical SPDI:: NC_000006.12:49969717:T:C
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_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_000006.12:g.49969718T>C, NC_000006.11:g.49937431T>C

Select item 14893167172.

rs1489316717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49970313 (GRCh38)
6:49938026 (GRCh37)
Canonical SPDI:: NC_000006.12:49970312:A:G
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49970313A>G, NC_000006.11:g.49938026A>G

Select item 14885504613.

rs1488550461 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,CC [Show Flanks]
Chromosome:: 6:49969423 (GRCh38)
6:49937136 (GRCh37)
Canonical SPDI:: NC_000006.12:49969420:CCCCC:CC,NC_000006.12:49969420:CCCCC:CCCC
Gene:: DEFB113 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49969423_49969425del, NC_000006.12:g.49969425del, NC_000006.11:g.49937136_49937138del, NC_000006.11:g.49937138del

Select item 14875693644.

rs1487569364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:49969804 (GRCh38)
6:49937517 (GRCh37)
Canonical SPDI:: NC_000006.12:49969803:A:T
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49969804A>T, NC_000006.11:g.49937517A>T

Select item 14870174205.

rs1487017420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49970645 (GRCh38)
6:49938358 (GRCh37)
Canonical SPDI:: NC_000006.12:49970644:A:G
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.49970645A>G, NC_000006.11:g.49938358A>G

Select item 14856020146.

rs1485602014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49968919 (GRCh38)
6:49936632 (GRCh37)
Canonical SPDI:: NC_000006.12:49968918:A:G
Gene:: DEFB113 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49968919A>G, NC_000006.11:g.49936632A>G

Select item 14833501917.

rs1483350191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49969941 (GRCh38)
6:49937654 (GRCh37)
Canonical SPDI:: NC_000006.12:49969940:A:G
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49969941A>G, NC_000006.11:g.49937654A>G

Select item 14833342708.

rs1483334270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:49969667 (GRCh38)
6:49937380 (GRCh37)
Canonical SPDI:: NC_000006.12:49969666:A:G
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.49969667A>G, NC_000006.11:g.49937380A>G

Select item 14832954929.

rs1483295492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:49969796 (GRCh38)
6:49937509 (GRCh37)
Canonical SPDI:: NC_000006.12:49969795:G:A,NC_000006.12:49969795:G:C
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.49969796G>A, NC_000006.12:g.49969796G>C, NC_000006.11:g.49937509G>A, NC_000006.11:g.49937509G>C

Select item 148160921610.

rs1481609216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:49969481 (GRCh38)
6:49937194 (GRCh37)
Canonical SPDI:: NC_000006.12:49969480:T:A
Gene:: DEFB113 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49969481T>A, NC_000006.11:g.49937194T>A

Select item 148083811311.

rs1480838113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:49971178 (GRCh38)
6:49938891 (GRCh37)
Canonical SPDI:: NC_000006.12:49971177:T:G
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49971178T>G, NC_000006.11:g.49938891T>G

Select item 147806012612.

rs1478060126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49968452 (GRCh38)
6:49936165 (GRCh37)
Canonical SPDI:: NC_000006.12:49968451:C:T
Gene:: DEFB113 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.49968452C>T, NC_000006.11:g.49936165C>T

Select item 147703299113.

rs1477032991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:49969908 (GRCh38)
6:49937621 (GRCh37)
Canonical SPDI:: NC_000006.12:49969907:C:G
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49969908C>G, NC_000006.11:g.49937621C>G

Select item 147692034714.

rs1476920347 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:49970186 (GRCh38)
6:49937899 (GRCh37)
Canonical SPDI:: NC_000006.12:49970185:A:
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.49970186del, NC_000006.11:g.49937899del

Select item 147656083615.

rs1476560836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49970756 (GRCh38)
6:49938469 (GRCh37)
Canonical SPDI:: NC_000006.12:49970755:T:C
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.49970756T>C, NC_000006.11:g.49938469T>C

Select item 147639855516.

rs1476398555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49971299 (GRCh38)
6:49939012 (GRCh37)
Canonical SPDI:: NC_000006.12:49971298:T:C
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.49971299T>C, NC_000006.11:g.49939012T>C

Select item 147604719017.

rs1476047190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49968585 (GRCh38)
6:49936298 (GRCh37)
Canonical SPDI:: NC_000006.12:49968584:G:A
Gene:: DEFB113 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.49968585G>A, NC_000006.11:g.49936298G>A

Select item 147519907618.

rs1475199076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49968837 (GRCh38)
6:49936550 (GRCh37)
Canonical SPDI:: NC_000006.12:49968836:T:C
Gene:: DEFB113 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.49968837T>C, NC_000006.11:g.49936550T>C, NM_001037729.1:c.89A>G, NP_001032818.1:p.Glu30Gly

Select item 147478381319.

rs1474783813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:49969672 (GRCh38)
6:49937385 (GRCh37)
Canonical SPDI:: NC_000006.12:49969671:G:A,NC_000006.12:49969671:G:T
Gene:: DEFB113 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49969672G>A, NC_000006.12:g.49969672G>T, NC_000006.11:g.49937385G>A, NC_000006.11:g.49937385G>T

Select item 147182827820.

rs1471828278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:49968410 (GRCh38)
6:49936123 (GRCh37)
Canonical SPDI:: NC_000006.12:49968409:C:T
Gene:: DEFB113 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.49968410C>T, NC_000006.11:g.49936123C>T

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