SNP Links for Gene (Select 644414) - SNP

Links from Gene

Items: 1 to 20 of 3086

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Select item 14915579211.

rs1491557921 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:9444928 (GRCh38)
4:9446655 (GRCh37)
Canonical SPDI:: NC_000004.12:9444928::C
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.9444928_9444929insC, NC_000004.11:g.9446654_9446655insC

Select item 14914812832.

rs1491481283 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:9444908 (GRCh38)
4:9446634 (GRCh37)
Canonical SPDI:: NC_000004.12:9444907:CA:
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00067/8 (ALFA)
-=0.00022/8 (GnomAD)
HGVS:: NC_000004.12:g.9444908_9444909del, NC_000004.11:g.9446634_9446635del

Select item 14914684343.

rs1491468434 has merged into rs58008628 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 4:9444932 (GRCh38)
4:9446658 (GRCh37)
Canonical SPDI:: NC_000004.12:9444927:AAAAAA:AAAA,NC_000004.12:9444927:AAAAAA:AAAAA
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.060601/782 (ALFA)
-=0.079661/47 (NorthernSweden)
-=0.1/4 (GENOME_DK)
-=0.116235/431 (TWINSUK)
-=0.126103/486 (ALSPAC)
-=0.164036/21510 (GnomAD)
-=0.206746/1324 (1000Genomes)
-=0.291003/4873 (TOMMO)
HGVS:: NC_000004.12:g.9444932_9444933del, NC_000004.12:g.9444933del, NC_000004.11:g.9446658_9446659del, NC_000004.11:g.9446659del

Select item 14911394514.

rs1491139451 has merged into rs60893274 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:9444919 (GRCh38)
4:9446645 (GRCh37)
Canonical SPDI:: NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:9444908:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2474/1239 (1000Genomes)
HGVS:: NC_000004.12:g.9444919_9444924del, NC_000004.12:g.9444921_9444924del, NC_000004.12:g.9444922_9444924del, NC_000004.12:g.9444923_9444924del, NC_000004.12:g.9444924del, NC_000004.12:g.9444924dup, NC_000004.12:g.9444923_9444924dup, NC_000004.12:g.9444922_9444924dup, NC_000004.12:g.9444921_9444924dup, NC_000004.12:g.9444916_9444924dup, NC_000004.11:g.9446645_9446650del, NC_000004.11:g.9446647_9446650del, NC_000004.11:g.9446648_9446650del, NC_000004.11:g.9446649_9446650del, NC_000004.11:g.9446650del, NC_000004.11:g.9446650dup, NC_000004.11:g.9446649_9446650dup, NC_000004.11:g.9446648_9446650dup, NC_000004.11:g.9446647_9446650dup, NC_000004.11:g.9446642_9446650dup

Select item 14908685375.

rs1490868537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:9447919 (GRCh38)
4:9449645 (GRCh37)
Canonical SPDI:: NC_000004.12:9447918:G:C,NC_000004.12:9447918:G:T
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000061/1 (ALFA)
C=0.000008/2 (TOPMED)
T=0.000064/9 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.9447919G>C, NC_000004.12:g.9447919G>T, NC_000004.11:g.9449645G>C, NC_000004.11:g.9449645G>T

Select item 14903509296.

rs1490350929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:9446445 (GRCh38)
4:9448171 (GRCh37)
Canonical SPDI:: NC_000004.12:9446444:G:T
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.9446445G>T, NC_000004.11:g.9448171G>T

Select item 14903163557.

rs1490316355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:9450881 (GRCh38)
4:9452607 (GRCh37)
Canonical SPDI:: NC_000004.12:9450880:T:A,NC_000004.12:9450880:T:C
Gene:: DEFB131A (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.9450881T>A, NC_000004.12:g.9450881T>C, NC_000004.11:g.9452607T>A, NC_000004.11:g.9452607T>C

Select item 14901011948.

rs1490101194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:9446923 (GRCh38)
4:9448649 (GRCh37)
Canonical SPDI:: NC_000004.12:9446922:A:C
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.9446923A>C, NC_000004.11:g.9448649A>C

Select item 14900756879.

rs1490075687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:9447566 (GRCh38)
4:9449292 (GRCh37)
Canonical SPDI:: NC_000004.12:9447565:C:A
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.9447566C>A, NC_000004.11:g.9449292C>A

Select item 149004959410.

rs1490049594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:9448376 (GRCh38)
4:9450102 (GRCh37)
Canonical SPDI:: NC_000004.12:9448375:T:G
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.9448376T>G, NC_000004.11:g.9450102T>G

Select item 149002492311.

rs1490024923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:9449684 (GRCh38)
4:9451410 (GRCh37)
Canonical SPDI:: NC_000004.12:9449683:G:A,NC_000004.12:9449683:G:T
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00006/1 (ALFA)
HGVS:: NC_000004.12:g.9449684G>A, NC_000004.12:g.9449684G>T, NC_000004.11:g.9451410G>A, NC_000004.11:g.9451410G>T

Select item 148986052612.

rs1489860526 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:9446722 (GRCh38)
4:9448448 (GRCh37)
Canonical SPDI:: NC_000004.12:9446721:TT:T
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.9446723del, NC_000004.11:g.9448449del

Select item 148969335213.

rs1489693352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:9450301 (GRCh38)
4:9452027 (GRCh37)
Canonical SPDI:: NC_000004.12:9450300:C:T
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.9450301C>T, NC_000004.11:g.9452027C>T

Select item 148960114314.

rs1489601143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:9449133 (GRCh38)
4:9450859 (GRCh37)
Canonical SPDI:: NC_000004.12:9449132:G:T
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.9449133G>T, NC_000004.11:g.9450859G>T

Select item 148943231015.

rs1489432310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:9442855 (GRCh38)
4:9444581 (GRCh37)
Canonical SPDI:: NC_000004.12:9442854:A:G
Gene:: DEFB131A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.9442855A>G, NC_000004.11:g.9444581A>G

Select item 148942900616.

rs1489429006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:9447192 (GRCh38)
4:9448918 (GRCh37)
Canonical SPDI:: NC_000004.12:9447191:C:A,NC_000004.12:9447191:C:G
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.9447192C>A, NC_000004.12:g.9447192C>G, NC_000004.11:g.9448918C>A, NC_000004.11:g.9448918C>G

Select item 148899350817.

rs1488993508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:9446375 (GRCh38)
4:9448101 (GRCh37)
Canonical SPDI:: NC_000004.12:9446374:T:G
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.9446375T>G, NC_000004.11:g.9448101T>G

Select item 148891306518.

rs1488913065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:9444491 (GRCh38)
4:9446217 (GRCh37)
Canonical SPDI:: NC_000004.12:9444490:T:A
Gene:: DEFB131A (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.9444491T>A, NC_000004.11:g.9446217T>A, NM_001040448.3:c.-43T>A

Select item 148878964119.

rs1488789641 has merged into rs1211588585 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:9445180 (GRCh38)
4:9446906 (GRCh37)
Canonical SPDI:: NC_000004.12:9445179:AAAAA:AAAA,NC_000004.12:9445179:AAAAA:AAAAAA
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.9445184del, NC_000004.12:g.9445184dup, NC_000004.11:g.9446910del, NC_000004.11:g.9446910dup

Select item 148866328420.

rs1488663284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:9446880 (GRCh38)
4:9448606 (GRCh37)
Canonical SPDI:: NC_000004.12:9446879:G:A
Gene:: DEFB131A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.9446880G>A, NC_000004.11:g.9448606G>A

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