SNP Links for Gene (Select 245937) - SNP

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Items: 1 to 20 of 3370

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Select item 14915728491.

rs1491572849 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 20:31470606 (GRCh38)
20:30058409 (GRCh37)
Canonical SPDI:: NC_000020.11:31470605:AC:
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.31470606_31470607del, NC_000020.10:g.30058409_30058410del, NG_046939.1:g.319_320del

Select item 14915339182.

rs1491533918 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATATATATATATTTATATATATATATATA [Show Flanks]
Chromosome:: 20:31466607 (GRCh38)
20:30054411 (GRCh37)
Canonical SPDI:: NC_000020.11:31466607:TATATATATATATATA:TATATATATATATATATATATATATATATATTTATATATATATATATA
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TATATATATATATATATATATATATATATATT=0.00002/1 (GnomAD)
HGVS:: NC_000020.11:g.31466608_31466623TA[15]TTTATATATATATATATA[1], NC_000020.10:g.30054411_30054426TA[15]TTTATATATATATATATA[1]

Select item 14914928893.

rs1491492889 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:31472937 (GRCh38)
20:30060740 (GRCh37)
Canonical SPDI:: NC_000020.11:31472936:AT:
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000054/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000017/2 (ExAC)
-=0.000026/7 (TOPMED)
-=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000020.11:g.31472937_31472938del, NC_000020.10:g.30060740_30060741del, NG_046939.1:g.2650_2651del

Select item 14914337594.

rs1491433759 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 20:31472434 (GRCh38)
20:30060237 (GRCh37)
Canonical SPDI:: NC_000020.11:31472431:GGGG:GG
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000009/1 (GnomAD)
HGVS:: NC_000020.11:g.31472434_31472435del, NC_000020.10:g.30060237_30060238del, NG_046939.1:g.2147_2148del

Select item 14912248925.

rs1491224892 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGAGA>-,AGGGAGAAGGGAGA [Show Flanks]
Chromosome:: 20:31472439 (GRCh38)
20:30060242 (GRCh37)
Canonical SPDI:: NC_000020.11:31472432:GGGAGAAGGGAGA:GGGAGA,NC_000020.11:31472432:GGGAGAAGGGAGA:GGGAGAAGGGAGAAGGGAGA
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGAGAAGGGAGAAGGGAGA=0./0 (ALFA)
GGGAGAA=0.00006/7 (GnomAD)
HGVS:: NC_000020.11:g.31472439_31472445del, NC_000020.11:g.31472439_31472445dup, NC_000020.10:g.30060242_30060248del, NC_000020.10:g.30060242_30060248dup, NG_046939.1:g.2152_2158del, NG_046939.1:g.2152_2158dup

Select item 14912176646.

rs1491217664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 20:31470618 (GRCh38)
20:30058421 (GRCh37)
Canonical SPDI:: NC_000020.11:31470616:CAC:C
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.31470618_31470619del, NC_000020.10:g.30058421_30058422del, NG_046939.1:g.331_332del

Select item 14911718457.

rs1491171845 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:31470617 (GRCh38)
20:30058421 (GRCh37)
Canonical SPDI:: NC_000020.11:31470617:A:AA
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31470618dup, NC_000020.10:g.30058421dup, NG_046939.1:g.331dup

Select item 14911036938.

rs1491103693 has merged into rs746201611 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCC>-,CCC,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC [Show Flanks]
Chromosome:: 20:31470611 (GRCh38)
20:30058414 (GRCh37)
Canonical SPDI:: NC_000020.11:31470606:CCCCCCCCCCC:CCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000020.11:31470606:CCCCCCCCCCC:CCCCCCCCCCCCCCCC
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.0497/17 (NorthernSweden)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000020.11:g.31470611_31470617del, NC_000020.11:g.31470614_31470617del, NC_000020.11:g.31470615_31470617del, NC_000020.11:g.31470616_31470617del, NC_000020.11:g.31470617del, NC_000020.11:g.31470617dup, NC_000020.11:g.31470616_31470617dup, NC_000020.11:g.31470615_31470617dup, NC_000020.11:g.31470614_31470617dup, NC_000020.11:g.31470613_31470617dup, NC_000020.10:g.30058414_30058420del, NC_000020.10:g.30058417_30058420del, NC_000020.10:g.30058418_30058420del, NC_000020.10:g.30058419_30058420del, NC_000020.10:g.30058420del, NC_000020.10:g.30058420dup, NC_000020.10:g.30058419_30058420dup, NC_000020.10:g.30058418_30058420dup, NC_000020.10:g.30058417_30058420dup, NC_000020.10:g.30058416_30058420dup, NG_046939.1:g.324_330del, NG_046939.1:g.327_330del, NG_046939.1:g.328_330del, NG_046939.1:g.329_330del, NG_046939.1:g.330del, NG_046939.1:g.330dup, NG_046939.1:g.329_330dup, NG_046939.1:g.328_330dup, NG_046939.1:g.327_330dup, NG_046939.1:g.326_330dup

Select item 14909060279.

rs1490906027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31471947 (GRCh38)
20:30059750 (GRCh37)
Canonical SPDI:: NC_000020.11:31471946:C:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.31471947C>T, NC_000020.10:g.30059750C>T, NG_046939.1:g.1660C>T

Select item 149078858110.

rs1490788581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:31469265 (GRCh38)
20:30057068 (GRCh37)
Canonical SPDI:: NC_000020.11:31469264:A:G
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31469265A>G, NC_000020.10:g.30057068A>G

Select item 149070933111.

rs1490709331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:31470316 (GRCh38)
20:30058119 (GRCh37)
Canonical SPDI:: NC_000020.11:31470315:C:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0011/18 (ALFA)
T=0.005/3 (NorthernSweden)
HGVS:: NC_000020.11:g.31470316C>T, NC_000020.10:g.30058119C>T, NG_046939.1:g.29C>T

Select item 149054687312.

rs1490546873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:31469982 (GRCh38)
20:30057785 (GRCh37)
Canonical SPDI:: NC_000020.11:31469981:T:A
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00386/63 (ALFA)
T=0.5/4 (SGDP_PRJ)
HGVS:: NC_000020.11:g.31469982T>A, NC_000020.10:g.30057785T>A

Select item 149022573013.

rs1490225730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:31470593 (GRCh38)
20:30058396 (GRCh37)
Canonical SPDI:: NC_000020.11:31470592:G:A,NC_000020.11:31470592:G:C,NC_000020.11:31470592:G:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD)
T=0.011606/194 (TOMMO)
T=0.14889/416 (KOREAN)
G=0.483871/60 (SGDP_PRJ)
HGVS:: NC_000020.11:g.31470593G>A, NC_000020.11:g.31470593G>C, NC_000020.11:g.31470593G>T, NC_000020.10:g.30058396G>A, NC_000020.10:g.30058396G>C, NC_000020.10:g.30058396G>T, NG_046939.1:g.306G>A, NG_046939.1:g.306G>C, NG_046939.1:g.306G>T

Select item 149017474614.

rs1490174746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:31471359 (GRCh38)
20:30059162 (GRCh37)
Canonical SPDI:: NC_000020.11:31471358:G:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00012/3 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.31471359G>T, NC_000020.10:g.30059162G>T, NG_046939.1:g.1072G>T

Select item 149007962715.

rs1490079627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:31471716 (GRCh38)
20:30059519 (GRCh37)
Canonical SPDI:: NC_000020.11:31471715:T:C
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.31471716T>C, NC_000020.10:g.30059519T>C, NG_046939.1:g.1429T>C

Select item 148984588616.

rs1489845886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:31471520 (GRCh38)
20:30059323 (GRCh37)
Canonical SPDI:: NC_000020.11:31471519:G:A,NC_000020.11:31471519:G:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_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_000020.11:g.31471520G>A, NC_000020.11:g.31471520G>T, NC_000020.10:g.30059323G>A, NC_000020.10:g.30059323G>T, NG_046939.1:g.1233G>A, NG_046939.1:g.1233G>T

Select item 148957373817.

rs1489573738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:31471729 (GRCh38)
20:30059532 (GRCh37)
Canonical SPDI:: NC_000020.11:31471728:C:G,NC_000020.11:31471728:C:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00062/4 (1000Genomes)
HGVS:: NC_000020.11:g.31471729C>G, NC_000020.11:g.31471729C>T, NC_000020.10:g.30059532C>G, NC_000020.10:g.30059532C>T, NG_046939.1:g.1442C>G, NG_046939.1:g.1442C>T

Select item 148946083918.

rs1489460839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:31466782 (GRCh38)
20:30054585 (GRCh37)
Canonical SPDI:: NC_000020.11:31466781:A:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_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_000020.11:g.31466782A>T, NC_000020.10:g.30054585A>T

Select item 148942967919.

rs1489429679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:31465884 (GRCh38)
20:30053687 (GRCh37)
Canonical SPDI:: NC_000020.11:31465883:C:G
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.31465884C>G, NC_000020.10:g.30053687C>G

Select item 148929016920.

rs1489290169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:31467253 (GRCh38)
20:30055056 (GRCh37)
Canonical SPDI:: NC_000020.11:31467252:A:T
Gene:: DEFB124 (Varview)
Functional Consequence:: intron_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_000020.11:g.31467253A>T, NC_000020.10:g.30055056A>T

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