SNP Links for Gene (Select 403339) - SNP

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Select item 14913524071.

rs1491352407 has merged into rs775231085 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:49949810 (GRCh38)
6:49917523 (GRCh37)
Canonical SPDI:: NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:49949799:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DEFB133 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TT=0.125/5 (GENOME_DK)
HGVS:: NC_000006.12:g.49949810_49949825del, NC_000006.12:g.49949812_49949825del, NC_000006.12:g.49949814_49949825del, NC_000006.12:g.49949815_49949825del, NC_000006.12:g.49949816_49949825del, NC_000006.12:g.49949817_49949825del, NC_000006.12:g.49949818_49949825del, NC_000006.12:g.49949819_49949825del, NC_000006.12:g.49949820_49949825del, NC_000006.12:g.49949821_49949825del, NC_000006.12:g.49949822_49949825del, NC_000006.12:g.49949823_49949825del, NC_000006.12:g.49949824_49949825del, NC_000006.12:g.49949825del, NC_000006.12:g.49949825dup, NC_000006.12:g.49949824_49949825dup, NC_000006.12:g.49949823_49949825dup, NC_000006.12:g.49949822_49949825dup, NC_000006.12:g.49949821_49949825dup, NC_000006.12:g.49949819_49949825dup, NC_000006.12:g.49949818_49949825dup, NC_000006.12:g.49949817_49949825dup, NC_000006.12:g.49949815_49949825dup, NC_000006.12:g.49949812_49949825dup, NC_000006.12:g.49949811_49949825dup, NC_000006.12:g.49949808_49949825dup, NC_000006.12:g.49949807_49949825dup, NC_000006.12:g.49949804_49949825dup, NC_000006.12:g.49949803_49949825dup, NC_000006.12:g.49949800_49949825dup, NC_000006.11:g.49917523_49917538del, NC_000006.11:g.49917525_49917538del, NC_000006.11:g.49917527_49917538del, NC_000006.11:g.49917528_49917538del, NC_000006.11:g.49917529_49917538del, NC_000006.11:g.49917530_49917538del, NC_000006.11:g.49917531_49917538del, NC_000006.11:g.49917532_49917538del, NC_000006.11:g.49917533_49917538del, NC_000006.11:g.49917534_49917538del, NC_000006.11:g.49917535_49917538del, NC_000006.11:g.49917536_49917538del, NC_000006.11:g.49917537_49917538del, NC_000006.11:g.49917538del, NC_000006.11:g.49917538dup, NC_000006.11:g.49917537_49917538dup, NC_000006.11:g.49917536_49917538dup, NC_000006.11:g.49917535_49917538dup, NC_000006.11:g.49917534_49917538dup, NC_000006.11:g.49917532_49917538dup, NC_000006.11:g.49917531_49917538dup, NC_000006.11:g.49917530_49917538dup, NC_000006.11:g.49917528_49917538dup, NC_000006.11:g.49917525_49917538dup, NC_000006.11:g.49917524_49917538dup, NC_000006.11:g.49917521_49917538dup, NC_000006.11:g.49917520_49917538dup, NC_000006.11:g.49917517_49917538dup, NC_000006.11:g.49917516_49917538dup, NC_000006.11:g.49917513_49917538dup

Select item 14911142682.

rs1491114268 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTC,CTCTC,CTCTCTG,CTG [Show Flanks]
Chromosome:: 6:49949800 (GRCh38)
6:49917514 (GRCh37)
Canonical SPDI:: NC_000006.12:49949800::C,NC_000006.12:49949800::CTC,NC_000006.12:49949800::CTCTC,NC_000006.12:49949800::CTCTCTG,NC_000006.12:49949800::CTG
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
HGVS:: NC_000006.12:g.49949800_49949801insC, NC_000006.12:g.49949800_49949801insCTC, NC_000006.12:g.49949800_49949801insCTCTC, NC_000006.12:g.49949800_49949801insCTCTCTG, NC_000006.12:g.49949800_49949801insCTG, NC_000006.11:g.49917513_49917514insC, NC_000006.11:g.49917513_49917514insCTC, NC_000006.11:g.49917513_49917514insCTCTC, NC_000006.11:g.49917513_49917514insCTCTCTG, NC_000006.11:g.49917513_49917514insCTG

Select item 14906761343.

rs1490676134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49948292 (GRCh38)
6:49916005 (GRCh37)
Canonical SPDI:: NC_000006.12:49948291:T:C
Gene:: DEFB133 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.49948292T>C, NC_000006.11:g.49916005T>C

Select item 14900978894.

rs1490097889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:49950939 (GRCh38)
6:49918652 (GRCh37)
Canonical SPDI:: NC_000006.12:49950938:T:A,NC_000006.12:49950938:T:G
Gene:: DEFB133 (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.49950939T>A, NC_000006.12:g.49950939T>G, NC_000006.11:g.49918652T>A, NC_000006.11:g.49918652T>G

Select item 14900320115.

rs1490032011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:49949933 (GRCh38)
6:49917646 (GRCh37)
Canonical SPDI:: NC_000006.12:49949932:G:C
Gene:: DEFB133 (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.49949933G>C, NC_000006.11:g.49917646G>C

Select item 14898692916.

rs1489869291 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTTTTTTT>- [Show Flanks]
Chromosome:: 6:49949787 (GRCh38)
6:49917500 (GRCh37)
Canonical SPDI:: NC_000006.12:49949785:TCTCTCTCTCTCTCTTTTTTT:T
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00008/7 (GnomAD)
HGVS:: NC_000006.12:g.49949787_49949806del, NC_000006.11:g.49917500_49917519del

Select item 14895950127.

rs1489595012 [Homo sapiens]

Variant type:: DEL
Alleles:: TTT>- [Show Flanks]
Chromosome:: 6:49947460 (GRCh38)
6:49915173 (GRCh37)
Canonical SPDI:: NC_000006.12:49947459:TTT:
Gene:: DEFB133 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.49947460_49947462del, NC_000006.11:g.49915173_49915175del

Select item 14894590828.

rs1489459082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49950660 (GRCh38)
6:49918373 (GRCh37)
Canonical SPDI:: NC_000006.12:49950659:T:C
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.49950660T>C, NC_000006.11:g.49918373T>C

Select item 14886623469.

rs1488662346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49947974 (GRCh38)
6:49915687 (GRCh37)
Canonical SPDI:: NC_000006.12:49947973:T:C
Gene:: DEFB133 (Varview)
Functional Consequence:: intron_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.49947974T>C, NC_000006.11:g.49915687T>C

Select item 148774879310.

rs1487748793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:49949884 (GRCh38)
6:49917597 (GRCh37)
Canonical SPDI:: NC_000006.12:49949883:T:C,NC_000006.12:49949883:T:G
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.00167/1 (NorthernSweden)
HGVS:: NC_000006.12:g.49949884T>C, NC_000006.12:g.49949884T>G, NC_000006.11:g.49917597T>C, NC_000006.11:g.49917597T>G

Select item 148744373811.

rs1487443738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49950521 (GRCh38)
6:49918234 (GRCh37)
Canonical SPDI:: NC_000006.12:49950520:G:A
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.49950521G>A, NC_000006.11:g.49918234G>A

Select item 148730262812.

rs1487302628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:49947516 (GRCh38)
6:49915229 (GRCh37)
Canonical SPDI:: NC_000006.12:49947515:A:C
Gene:: DEFB133 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49947516A>C, NC_000006.11:g.49915229A>C

Select item 148670140613.

rs1486701406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:49946105 (GRCh38)
6:49913818 (GRCh37)
Canonical SPDI:: NC_000006.12:49946104:A:G,NC_000006.12:49946104:A:T
Gene:: DEFB133 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49946105A>G, NC_000006.12:g.49946105A>T, NC_000006.11:g.49913818A>G, NC_000006.11:g.49913818A>T, NM_001166478.1:c.182T>C, NM_001166478.1:c.182T>A, NR_163261.1:n.180T>C, NR_163261.1:n.180T>A

Select item 148545643014.

rs1485456430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:49950378 (GRCh38)
6:49918091 (GRCh37)
Canonical SPDI:: NC_000006.12:49950377:G:A,NC_000006.12:49950377:G:T
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000008/1 (GnomAD)
A=0.000673/11 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.49950378G>A, NC_000006.12:g.49950378G>T, NC_000006.11:g.49918091G>A, NC_000006.11:g.49918091G>T

Select item 148535548615.

rs1485355486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49949780 (GRCh38)
6:49917493 (GRCh37)
Canonical SPDI:: NC_000006.12:49949779:T:C
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000006.12:g.49949780T>C, NC_000006.11:g.49917493T>C

Select item 148494098916.

rs1484940989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:49946588 (GRCh38)
6:49914301 (GRCh37)
Canonical SPDI:: NC_000006.12:49946587:C:G,NC_000006.12:49946587:C:T
Gene:: DEFB133 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.49946588C>G, NC_000006.12:g.49946588C>T, NC_000006.11:g.49914301C>G, NC_000006.11:g.49914301C>T

Select item 148479068517.

rs1484790685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:49945944 (GRCh38)
6:49913657 (GRCh37)
Canonical SPDI:: NC_000006.12:49945943:C:G
Gene:: DEFB133 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.49945944C>G, NC_000006.11:g.49913657C>G

Select item 148476061418.

rs1484760614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:49946888 (GRCh38)
6:49914601 (GRCh37)
Canonical SPDI:: NC_000006.12:49946887:G:T
Gene:: DEFB133 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.49946888G>T, NC_000006.11:g.49914601G>T

Select item 148417310719.

rs1484173107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:49951374 (GRCh38)
6:49919087 (GRCh37)
Canonical SPDI:: NC_000006.12:49951373:T:C
Gene:: DEFB133 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.49951374T>C, NC_000006.11:g.49919087T>C

Select item 148416638720.

rs1484166387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:49947012 (GRCh38)
6:49914725 (GRCh37)
Canonical SPDI:: NC_000006.12:49947011:G:A
Gene:: DEFB133 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.49947012G>A, NC_000006.11:g.49914725G>A

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