SNP Links for Gene (Select 22873) - SNP

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Select item 14915586181.

rs1491558618 has merged into rs370517040 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 13:95646117 (GRCh38)
13:96298371 (GRCh37)
Canonical SPDI:: NC_000013.11:95646104:GAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000013.11:95646104:GAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000013.11:95646104:GAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000013.11:95646104:GAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA
Gene:: DZIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGA=0./0 (ALFA)
GA=0.00054/9 (TOMMO)
HGVS:: NC_000013.11:g.95646105GA[6], NC_000013.11:g.95646105GA[7], NC_000013.11:g.95646105GA[9], NC_000013.11:g.95646105GA[10], NC_000013.10:g.96298359GA[6], NC_000013.10:g.96298359GA[7], NC_000013.10:g.96298359GA[9], NC_000013.10:g.96298359GA[10]

Select item 14915183312.

rs1491518331 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:95614125 (GRCh38)
13:96266379 (GRCh37)
Canonical SPDI:: NC_000013.11:95614124:CA:
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.95614125_95614126del, NC_000013.10:g.96266379_96266380del

Select item 14915083133.

rs1491508313 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:95603306 (GRCh38)
13:96255560 (GRCh37)
Canonical SPDI:: NC_000013.11:95603305:CA:
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00061/10 (TOMMO)
HGVS:: NC_000013.11:g.95603306_95603307del, NC_000013.10:g.96255560_96255561del

Select item 14914911584.

rs1491491158 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14914891955.

rs1491489195 has merged into rs34000481 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:95639598 (GRCh38)
13:96291852 (GRCh37)
Canonical SPDI:: NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95639590:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000013.11:g.95639598_95639607del, NC_000013.11:g.95639603_95639607del, NC_000013.11:g.95639604_95639607del, NC_000013.11:g.95639605_95639607del, NC_000013.11:g.95639606_95639607del, NC_000013.11:g.95639607del, NC_000013.11:g.95639607dup, NC_000013.11:g.95639606_95639607dup, NC_000013.11:g.95639605_95639607dup, NC_000013.11:g.95639604_95639607dup, NC_000013.11:g.95639603_95639607dup, NC_000013.11:g.95639601_95639607dup, NC_000013.11:g.95639600_95639607dup, NC_000013.11:g.95639597_95639607dup, NC_000013.10:g.96291852_96291861del, NC_000013.10:g.96291857_96291861del, NC_000013.10:g.96291858_96291861del, NC_000013.10:g.96291859_96291861del, NC_000013.10:g.96291860_96291861del, NC_000013.10:g.96291861del, NC_000013.10:g.96291861dup, NC_000013.10:g.96291860_96291861dup, NC_000013.10:g.96291859_96291861dup, NC_000013.10:g.96291858_96291861dup, NC_000013.10:g.96291857_96291861dup, NC_000013.10:g.96291855_96291861dup, NC_000013.10:g.96291854_96291861dup, NC_000013.10:g.96291851_96291861dup

Select item 14914333466.

rs1491433346 has merged into rs10539901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTCTCTCTCTCTCTCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC [Show Flanks]
Chromosome:: 13:95637621 (GRCh38)
13:96289875 (GRCh37)
Canonical SPDI:: NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,NC_000013.11:95637604:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTC=0./0 (ALFA)
TCTCTC=0.5/20 (GENOME_DK)
HGVS:: NC_000013.11:g.95637605TC[8], NC_000013.11:g.95637605TC[9], NC_000013.11:g.95637605TC[10], NC_000013.11:g.95637605TC[11], NC_000013.11:g.95637605TC[12], NC_000013.11:g.95637605TC[13], NC_000013.11:g.95637605TC[14], NC_000013.11:g.95637605TC[15], NC_000013.11:g.95637605TC[16], NC_000013.11:g.95637605TC[17], NC_000013.11:g.95637605TC[18], NC_000013.11:g.95637605TC[19], NC_000013.11:g.95637605TC[20], NC_000013.11:g.95637605TC[22], NC_000013.11:g.95637605TC[23], NC_000013.11:g.95637605TC[24], NC_000013.11:g.95637605TC[25], NC_000013.11:g.95637605TC[26], NC_000013.10:g.96289859TC[8], NC_000013.10:g.96289859TC[9], NC_000013.10:g.96289859TC[10], NC_000013.10:g.96289859TC[11], NC_000013.10:g.96289859TC[12], NC_000013.10:g.96289859TC[13], NC_000013.10:g.96289859TC[14], NC_000013.10:g.96289859TC[15], NC_000013.10:g.96289859TC[16], NC_000013.10:g.96289859TC[17], NC_000013.10:g.96289859TC[18], NC_000013.10:g.96289859TC[19], NC_000013.10:g.96289859TC[20], NC_000013.10:g.96289859TC[22], NC_000013.10:g.96289859TC[23], NC_000013.10:g.96289859TC[24], NC_000013.10:g.96289859TC[25], NC_000013.10:g.96289859TC[26]

Select item 14914205227.

rs1491420522 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 13:95637604 (GRCh38)
13:96289858 (GRCh37)
Canonical SPDI:: NC_000013.11:95637603:AT:
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.95637604_95637605del, NC_000013.10:g.96289858_96289859del

Select item 14913819158.

rs1491381915 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GC
Chromosome:: no mapping
Canonical SPDI:

Select item 14913333019.

rs1491333301 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:95610122 (GRCh38)
13:96262376 (GRCh37)
Canonical SPDI:: NC_000013.11:95610120:ACA:A
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
-=0.001254/145 (GnomAD)
-=0.003282/6 (Korea1K)
-=0.004005/67 (TOMMO)
HGVS:: NC_000013.11:g.95610122_95610123del, NC_000013.10:g.96262376_96262377del

Select item 149125374010.

rs1491253740 has merged into rs71682947 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:95640009 (GRCh38)
13:96292263 (GRCh37)
Canonical SPDI:: NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:95639998:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: DZIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4157/2082 (1000Genomes)
HGVS:: NC_000013.11:g.95640009_95640011del, NC_000013.11:g.95640010_95640011del, NC_000013.11:g.95640011del, NC_000013.11:g.95640011dup, NC_000013.11:g.95640010_95640011dup, NC_000013.11:g.95640009_95640011dup, NC_000013.11:g.95640008_95640011dup, NC_000013.11:g.95640007_95640011dup, NC_000013.11:g.95640002_95640011dup, NC_000013.10:g.96292263_96292265del, NC_000013.10:g.96292264_96292265del, NC_000013.10:g.96292265del, NC_000013.10:g.96292265dup, NC_000013.10:g.96292264_96292265dup, NC_000013.10:g.96292263_96292265dup, NC_000013.10:g.96292262_96292265dup, NC_000013.10:g.96292261_96292265dup, NC_000013.10:g.96292256_96292265dup

Select item 149125120911.

rs1491251209 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:95633678 (GRCh38)
13:96285932 (GRCh37)
Canonical SPDI:: NC_000013.11:95633677:CA:
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00167/1 (NorthernSweden)
HGVS:: NC_000013.11:g.95633678_95633679del, NC_000013.10:g.96285932_96285933del

Select item 149117805112.

rs1491178051 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 13:95638663 (GRCh38)
13:96290917 (GRCh37)
Canonical SPDI:: NC_000013.11:95638661:CGC:C
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.95638663_95638664del, NC_000013.10:g.96290917_96290918del

Select item 149112928813.

rs1491129288 has merged into rs11327779 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:95614135 (GRCh38)
13:96266389 (GRCh37)
Canonical SPDI:: NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95614125:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.95614135_95614147del, NC_000013.11:g.95614137_95614147del, NC_000013.11:g.95614139_95614147del, NC_000013.11:g.95614141_95614147del, NC_000013.11:g.95614142_95614147del, NC_000013.11:g.95614143_95614147del, NC_000013.11:g.95614144_95614147del, NC_000013.11:g.95614145_95614147del, NC_000013.11:g.95614146_95614147del, NC_000013.11:g.95614147del, NC_000013.11:g.95614147dup, NC_000013.11:g.95614146_95614147dup, NC_000013.11:g.95614145_95614147dup, NC_000013.11:g.95614144_95614147dup, NC_000013.11:g.95614143_95614147dup, NC_000013.11:g.95614142_95614147dup, NC_000013.10:g.96266389_96266401del, NC_000013.10:g.96266391_96266401del, NC_000013.10:g.96266393_96266401del, NC_000013.10:g.96266395_96266401del, NC_000013.10:g.96266396_96266401del, NC_000013.10:g.96266397_96266401del, NC_000013.10:g.96266398_96266401del, NC_000013.10:g.96266399_96266401del, NC_000013.10:g.96266400_96266401del, NC_000013.10:g.96266401del, NC_000013.10:g.96266401dup, NC_000013.10:g.96266400_96266401dup, NC_000013.10:g.96266399_96266401dup, NC_000013.10:g.96266398_96266401dup, NC_000013.10:g.96266397_96266401dup, NC_000013.10:g.96266396_96266401dup

Select item 149090127314.

rs1490901273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:95615702 (GRCh38)
13:96267956 (GRCh37)
Canonical SPDI:: NC_000013.11:95615701:C:G
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_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_000013.11:g.95615702C>G, NC_000013.10:g.96267956C>G

Select item 149086845615.

rs1490868456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:95601522 (GRCh38)
13:96253776 (GRCh37)
Canonical SPDI:: NC_000013.11:95601521:G:T
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.95601522G>T, NC_000013.10:g.96253776G>T

Select item 149081900716.

rs1490819007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:95581646 (GRCh38)
13:96233900 (GRCh37)
Canonical SPDI:: NC_000013.11:95581645:T:C
Gene:: DZIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.95581646T>C, NC_000013.10:g.96233900T>C, NG_047100.1:g.153048T>C, NM_014934.5:c.*588A>G, NM_014934.4:c.*588A>G, NM_198968.4:c.*588A>G, NM_198968.3:c.*588A>G, XM_006719917.3:c.*588A>G, XM_006719917.2:c.*588A>G, XM_006719917.1:c.*588A>G, XM_017020444.2:c.*588A>G, XM_017020444.1:c.*588A>G, XM_047430172.1:c.*588A>G, XM_047430176.1:c.*588A>G, XM_047430179.1:c.*588A>G, XM_047430166.1:c.*588A>G, XM_047430168.1:c.*588A>G, XM_047430175.1:c.*588A>G, XM_047430178.1:c.*588A>G, XM_047430180.1:c.*588A>G

Select item 149072693917.

rs1490726939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:95639173 (GRCh38)
13:96291427 (GRCh37)
Canonical SPDI:: NC_000013.11:95639172:G:C
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.95639173G>C, NC_000013.10:g.96291427G>C

Select item 149069797718.

rs1490697977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:95624392 (GRCh38)
13:96276646 (GRCh37)
Canonical SPDI:: NC_000013.11:95624391:T:C
Gene:: DZIP1 (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_000013.11:g.95624392T>C, NC_000013.10:g.96276646T>C

Select item 149069323819.

rs1490693238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:95623322 (GRCh38)
13:96275576 (GRCh37)
Canonical SPDI:: NC_000013.11:95623321:G:T
Gene:: DZIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.95623322G>T, NC_000013.10:g.96275576G>T

Select item 149066225520.

rs1490662255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:95584754 (GRCh38)
13:96237008 (GRCh37)
Canonical SPDI:: NC_000013.11:95584753:T:G
Gene:: DZIP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.95584754T>G, NC_000013.10:g.96237008T>G, NM_014934.5:c.2449A>C, NM_014934.4:c.2449A>C, NM_198968.4:c.2506A>C, NM_198968.3:c.2506A>C, XM_006719917.3:c.2644A>C, XM_006719917.2:c.2644A>C, XM_006719917.1:c.2644A>C, XM_017020444.2:c.2584A>C, XM_017020444.1:c.2584A>C, XM_047430172.1:c.2506A>C, XM_047430176.1:c.2491A>C, XM_047430179.1:c.2446A>C, XM_047430166.1:c.2629A>C, XM_047430168.1:c.2569A>C, XM_047430175.1:c.2491A>C, XM_047430178.1:c.2446A>C, XM_047430180.1:c.2431A>C, XM_047430165.1:c.2644A>C, XM_047430169.1:c.2506A>C, XM_047430171.1:c.2491A>C, XM_047430174.1:c.2446A>C, XM_006719916.1:c.2644A>C, XM_005254032.1:c.2629A>C, XM_006719918.1:c.2584A>C, XM_047430167.1:c.2569A>C, XM_006719920.1:c.2506A>C, XM_047430170.1:c.2491A>C, XM_047430173.1:c.2446A>C, XM_047430177.1:c.2431A>C, XM_047430181.1:c.1687A>C, NP_055749.1:p.Lys817Gln, NP_945319.1:p.Lys836Gln, XP_006719980.1:p.Lys882Gln, XP_016875933.1:p.Lys862Gln, XP_047286128.1:p.Lys836Gln, XP_047286132.1:p.Lys831Gln, XP_047286135.1:p.Lys816Gln, XP_047286122.1:p.Lys877Gln, XP_047286124.1:p.Lys857Gln, XP_047286131.1:p.Lys831Gln, XP_047286134.1:p.Lys816Gln, XP_047286136.1:p.Lys811Gln, XP_047286121.1:p.Lys882Gln, XP_047286125.1:p.Lys836Gln, XP_047286127.1:p.Lys831Gln, XP_047286130.1:p.Lys816Gln, XP_006719979.1:p.Lys882Gln, XP_005254089.1:p.Lys877Gln, XP_006719981.1:p.Lys862Gln, XP_047286123.1:p.Lys857Gln, XP_006719983.1:p.Lys836Gln, XP_047286126.1:p.Lys831Gln, XP_047286129.1:p.Lys816Gln, XP_047286133.1:p.Lys811Gln, XP_047286137.1:p.Lys563Gln

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