SNP Links for Gene (Select 140881) - SNP

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Links from Gene

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Select item 14909307751.

rs1490930775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:226328 (GRCh38)
20:206969 (GRCh37)
Canonical SPDI:: NC_000020.11:226327:G:T
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.226328G>T, NC_000020.10:g.206969G>T

Select item 14873210932.

rs1487321093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:228861 (GRCh38)
20:209502 (GRCh37)
Canonical SPDI:: NC_000020.11:228860:T:C
Gene:: DEFB129 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.228861T>C, NC_000020.10:g.209502T>C

Select item 14871937323.

rs1487193732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:228345 (GRCh38)
20:208986 (GRCh37)
Canonical SPDI:: NC_000020.11:228344:G:C
Gene:: DEFB129 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.228345G>C, NC_000020.10:g.208986G>C

Select item 14866064384.

rs1486606438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:229863 (GRCh38)
20:210504 (GRCh37)
Canonical SPDI:: NC_000020.11:229862:A:G
Gene:: DEFB129 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.229863A>G, NC_000020.10:g.210504A>G, NM_080831.4:c.*92A>G, NM_080831.3:c.*92A>G

Select item 14856776365.

rs1485677636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:227328 (GRCh38)
20:207969 (GRCh37)
Canonical SPDI:: NC_000020.11:227327:C:T
Gene:: DEFB129 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.227328C>T, NC_000020.10:g.207969C>T, NM_080831.4:c.40C>T, NM_080831.3:c.40C>T, NP_543021.1:p.Gln14Ter

Select item 14856354186.

rs1485635418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:225999 (GRCh38)
20:206640 (GRCh37)
Canonical SPDI:: NC_000020.11:225998:T:C
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.225999T>C, NC_000020.10:g.206640T>C

Select item 14852614667.

rs1485261466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:226372 (GRCh38)
20:207013 (GRCh37)
Canonical SPDI:: NC_000020.11:226371:A:G
Gene:: DEFB129 (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=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.226372A>G, NC_000020.10:g.207013A>G

Select item 14836972778.

rs1483697277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:227178 (GRCh38)
20:207819 (GRCh37)
Canonical SPDI:: NC_000020.11:227177:C:G
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.227178C>G, NC_000020.10:g.207819C>G

Select item 14835545569.

rs1483554556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:228534 (GRCh38)
20:209175 (GRCh37)
Canonical SPDI:: NC_000020.11:228533:T:C
Gene:: DEFB129 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.228534T>C, NC_000020.10:g.209175T>C

Select item 148350378310.

rs1483503783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:226255 (GRCh38)
20:206896 (GRCh37)
Canonical SPDI:: NC_000020.11:226254:T:C
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.226255T>C, NC_000020.10:g.206896T>C

Select item 148304468211.

rs1483044682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:228140 (GRCh38)
20:208781 (GRCh37)
Canonical SPDI:: NC_000020.11:228139:T:C
Gene:: DEFB129 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.228140T>C, NC_000020.10:g.208781T>C

Select item 148259578112.

rs1482595781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:228797 (GRCh38)
20:209438 (GRCh37)
Canonical SPDI:: NC_000020.11:228796:T:C
Gene:: DEFB129 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.228797T>C, NC_000020.10:g.209438T>C

Select item 148251176813.

rs1482511768 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:229339 (GRCh38)
20:209980 (GRCh37)
Canonical SPDI:: NC_000020.11:229338:G:A
Gene:: DEFB129 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.229339G>A, NC_000020.10:g.209980G>A, NM_080831.4:c.120G>A, NM_080831.3:c.120G>A

Select item 148085442514.

rs1480854425 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:225522 (GRCh38)
20:206163 (GRCh37)
Canonical SPDI:: NC_000020.11:225520:ACA:A
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.225522_225523del, NC_000020.10:g.206163_206164del

Select item 148051373915.

rs1480513739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:227170 (GRCh38)
20:207811 (GRCh37)
Canonical SPDI:: NC_000020.11:227169:A:G
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000354/6 (TOMMO)
HGVS:: NC_000020.11:g.227170A>G, NC_000020.10:g.207811A>G

Select item 148046215316.

rs1480462153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:226050 (GRCh38)
20:206691 (GRCh37)
Canonical SPDI:: NC_000020.11:226049:A:G
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.226050A>G, NC_000020.10:g.206691A>G

Select item 147882973717.

rs1478829737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:226725 (GRCh38)
20:207366 (GRCh37)
Canonical SPDI:: NC_000020.11:226724:C:A,NC_000020.11:226724:C:T
Gene:: DEFB129 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.226725C>A, NC_000020.11:g.226725C>T, NC_000020.10:g.207366C>A, NC_000020.10:g.207366C>T

Select item 147876010118.

rs1478760101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:227306 (GRCh38)
20:207947 (GRCh37)
Canonical SPDI:: NC_000020.11:227305:T:A
Gene:: DEFB129 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.227306T>A, NC_000020.10:g.207947T>A, NM_080831.4:c.18T>A, NM_080831.3:c.18T>A

Select item 147843441719.

rs1478434417 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:230179 (GRCh38)
20:210821 (GRCh37)
Canonical SPDI:: NC_000020.11:230179:AAAAA:AAAAAA
Gene:: DEFB129 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.230184dup, NC_000020.10:g.210825dup

Select item 147655574320.

rs1476555743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:230357 (GRCh38)
20:210998 (GRCh37)
Canonical SPDI:: NC_000020.11:230356:A:C
Gene:: DEFB129 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000020.11:g.230357A>C, NC_000020.10:g.210998A>C