SNP Links for Gene (Select 399949) - SNP

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Select item 14910785291.

rs1491078529 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: 11:111528806 (GRCh38)
11:111399532 (GRCh37)
Canonical SPDI:: NC_000011.10:111528806:T:TGT,NC_000011.10:111528806:T:TGTGT
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.000061/1 (ALFA)
TGTG=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111528807_111528808insGT, NC_000011.10:g.111528807_111528808insGTGT, NC_000011.9:g.111399532_111399533insGT, NC_000011.9:g.111399532_111399533insGTGT

Select item 14910043042.

rs1491004304 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATAAAAAG [Show Flanks]
Chromosome:: 11:111529232 (GRCh38)
11:111399958 (GRCh37)
Canonical SPDI:: NC_000011.10:111529232:AAAAG:AAAAGCATAAAAAG
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAGCATAAAAAG=0./0 (ALFA)
AAAAGCATA=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.111529233_111529237A[4]GCATAAAAAG[1], NC_000011.9:g.111399958_111399962A[4]GCATAAAAAG[1]

Select item 14909523623.

rs1490952362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111530234 (GRCh38)
11:111400959 (GRCh37)
Canonical SPDI:: NC_000011.10:111530233:G:A
Gene:: HOATZ (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_000011.10:g.111530234G>A, NC_000011.9:g.111400959G>A

Select item 14907784614.

rs1490778461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111515523 (GRCh38)
11:111386248 (GRCh37)
Canonical SPDI:: NC_000011.10:111515522:C:T
Gene:: BTG4 (Varview), HOATZ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.111515523C>T, NC_000011.9:g.111386248C>T, NM_207430.2:c.239C>T, NM_001100388.2:c.239C>T, NM_001100388.1:c.239C>T, NP_997313.2:p.Ser80Phe, NP_001093858.1:p.Ser80Phe

Select item 14905160085.

rs1490516008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111512856 (GRCh38)
11:111383581 (GRCh37)
Canonical SPDI:: NC_000011.10:111512855:C:T
Gene:: BTG4 (Varview), HOATZ (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111512856C>T, NC_000011.9:g.111383581C>T

Select item 14905117426.

rs1490511742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:111529705 (GRCh38)
11:111400430 (GRCh37)
Canonical SPDI:: NC_000011.10:111529704:C:A,NC_000011.10:111529704:C:G
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.111529705C>A, NC_000011.10:g.111529705C>G, NC_000011.9:g.111400430C>A, NC_000011.9:g.111400430C>G

Select item 14904849967.

rs1490484996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:111513731 (GRCh38)
11:111384456 (GRCh37)
Canonical SPDI:: NC_000011.10:111513730:T:C
Gene:: BTG4 (Varview), HOATZ (Varview), MIR34C (Varview), MIR34BHG (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_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_000011.10:g.111513731T>C, NC_000011.9:g.111384456T>C, NR_147706.1:n.985T>C

Select item 14904601108.

rs1490460110 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAAATGAAAATT>- [Show Flanks]
Chromosome:: 11:111530711 (GRCh38)
11:111401436 (GRCh37)
Canonical SPDI:: NC_000011.10:111530706:AATTAGAAATGAAAATT:AATT
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111530711_111530723del, NC_000011.9:g.111401436_111401448del

Select item 14904248059.

rs1490424805 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:111524971 (GRCh38)
11:111395697 (GRCh37)
Canonical SPDI:: NC_000011.10:111524971:CCC:CCCC
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.111524974dup, NC_000011.9:g.111395699dup

Select item 149040673110.

rs1490406731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:111528743 (GRCh38)
11:111399468 (GRCh37)
Canonical SPDI:: NC_000011.10:111528742:T:C
Gene:: HOATZ (Varview)
Functional Consequence:: intron_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_000011.10:g.111528743T>C, NC_000011.9:g.111399468T>C

Select item 149028441711.

rs1490284417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:111524888 (GRCh38)
11:111395613 (GRCh37)
Canonical SPDI:: NC_000011.10:111524887:G:T
Gene:: HOATZ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.00005/6 (GnomAD_exomes)
HGVS:: NC_000011.10:g.111524888G>T, NC_000011.9:g.111395613G>T, NM_207430.2:c.345G>T, NP_997313.2:p.Arg115Ser

Select item 149023128312.

rs1490231283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTT>- [Show Flanks]
Chromosome:: 11:111534395 (GRCh38)
11:111405120 (GRCh37)
Canonical SPDI:: NC_000011.10:111534390:TTTTATTTT:TTTT
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.111534395_111534399del, NC_000011.9:g.111405120_111405124del

Select item 148993510213.

rs1489935102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:111536761 (GRCh38)
11:111407486 (GRCh37)
Canonical SPDI:: NC_000011.10:111536760:T:C
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.111536761T>C, NC_000011.9:g.111407486T>C

Select item 148990588214.

rs1489905882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111520993 (GRCh38)
11:111391718 (GRCh37)
Canonical SPDI:: NC_000011.10:111520992:C:T
Gene:: HOATZ (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_000011.10:g.111520993C>T, NC_000011.9:g.111391718C>T

Select item 148990525215.

rs1489905252 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:111529779 (GRCh38)
11:111400504 (GRCh37)
Canonical SPDI:: NC_000011.10:111529778:TA:
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111529779_111529780del, NC_000011.9:g.111400504_111400505del

Select item 148981834316.

rs1489818343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:111532877 (GRCh38)
11:111403602 (GRCh37)
Canonical SPDI:: NC_000011.10:111532876:A:T
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111532877A>T, NC_000011.9:g.111403602A>T

Select item 148973533217.

rs1489735332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111513257 (GRCh38)
11:111383982 (GRCh37)
Canonical SPDI:: NC_000011.10:111513256:G:A
Gene:: BTG4 (Varview), HOATZ (Varview), MIR34B (Varview), MIR34C (Varview), MIR34BHG (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.111513257G>A, NC_000011.9:g.111383982G>A, NR_147706.1:n.511G>A

Select item 148969494218.

rs1489694942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:111531336 (GRCh38)
11:111402061 (GRCh37)
Canonical SPDI:: NC_000011.10:111531335:T:G
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.111531336T>G, NC_000011.9:g.111402061T>G

Select item 148961641319.

rs1489616413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:111531381 (GRCh38)
11:111402106 (GRCh37)
Canonical SPDI:: NC_000011.10:111531380:T:C
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.111531381T>C, NC_000011.9:g.111402106T>C

Select item 148944249420.

rs1489442494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 11:111517989 (GRCh38)
11:111388715 (GRCh37)
Canonical SPDI:: NC_000011.10:111517989:CCCC:CCCCC
Gene:: HOATZ (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000011.10:g.111517993dup, NC_000011.9:g.111388718dup

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