SNP Links for Gene (Select 105371401) - SNP

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Select item 14915517601.

rs1491551760 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:88181073 (GRCh38)
16:88214679 (GRCh37)
Canonical SPDI:: NC_000016.10:88181072:CT:
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000246/4 (ALFA)
-=0.000166/21 (GnomAD)
HGVS:: NC_000016.10:g.88181073_88181074del, NC_000016.9:g.88214679_88214680del, XR_007065176.1:n.5570_5571del

Select item 14913989822.

rs1491398982 has merged into rs79355665 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 16:88185396 (GRCh38)
16:88219002 (GRCh37)
Canonical SPDI:: NC_000016.10:88185388:ACACACACACA:ACACACA,NC_000016.10:88185388:ACACACACACA:ACACACACA,NC_000016.10:88185388:ACACACACACA:ACACACACACACA
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.05994/231 (ALSPAC)
-=0.07012/260 (TWINSUK)
HGVS:: NC_000016.10:g.88185390CA[3], NC_000016.10:g.88185390CA[4], NC_000016.10:g.88185390CA[6], NC_000016.9:g.88218996CA[3], NC_000016.9:g.88218996CA[4], NC_000016.9:g.88218996CA[6], XR_007065176.1:n.1362GT[3], XR_007065176.1:n.1362GT[4], XR_007065176.1:n.1362GT[6], XR_007065177.1:n.1362GT[3], XR_007065177.1:n.1362GT[4], XR_007065177.1:n.1362GT[6]

Select item 14913635893.

rs1491363589 has merged into rs796748194 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:88185359 (GRCh38)
16:88218965 (GRCh37)
Canonical SPDI:: NC_000016.10:88185357:AAA:A
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002951/35 (ALFA)
-=0.00092/15 (TOMMO)
-=0.00275/728 (TOPMED)
-=0.002756/353 (GnomAD)
-=0.007642/14 (Korea1K)
HGVS:: NC_000016.10:g.88185359_88185360del, NC_000016.9:g.88218965_88218966del, XR_007065176.1:n.1401_1402del, XR_007065177.1:n.1401_1402del

Select item 14911637414.

rs1491163741 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:88185388 (GRCh38)
16:88218994 (GRCh37)
Canonical SPDI:: NC_000016.10:88185387:AA:
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.88185388_88185389del, NC_000016.9:g.88218994_88218995del, XR_007065176.1:n.1371_1372del, XR_007065177.1:n.1371_1372del

Select item 14910378735.

rs1491037873 has merged into rs10649975 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTCTTTTTGTCTGCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:88187729 (GRCh38)
16:88221335 (GRCh37)
Canonical SPDI:: NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTCTGCTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:88187715:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3698/1852 (1000Genomes)
HGVS:: NC_000016.10:g.88187729_88187734del, NC_000016.10:g.88187730_88187734del, NC_000016.10:g.88187731_88187734del, NC_000016.10:g.88187732_88187734del, NC_000016.10:g.88187733_88187734del, NC_000016.10:g.88187734del, NC_000016.10:g.88187734dup, NC_000016.10:g.88187733_88187734dup, NC_000016.10:g.88187732_88187734dup, NC_000016.10:g.88187731_88187734dup, NC_000016.10:g.88187716_88187734T[23]CTTTTTGTCTGCTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.88187730_88187734dup, NC_000016.10:g.88187727_88187734dup, NC_000016.10:g.88187726_88187734dup, NC_000016.10:g.88187723_88187734dup, NC_000016.10:g.88187722_88187734dup, NC_000016.10:g.88187721_88187734dup, NC_000016.10:g.88187720_88187734dup, NC_000016.10:g.88187718_88187734dup, NC_000016.10:g.88187716_88187734dup, NC_000016.9:g.88221335_88221340del, NC_000016.9:g.88221336_88221340del, NC_000016.9:g.88221337_88221340del, NC_000016.9:g.88221338_88221340del, NC_000016.9:g.88221339_88221340del, NC_000016.9:g.88221340del, NC_000016.9:g.88221340dup, NC_000016.9:g.88221339_88221340dup, NC_000016.9:g.88221338_88221340dup, NC_000016.9:g.88221337_88221340dup, NC_000016.9:g.88221322_88221340T[23]CTTTTTGTCTGCTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.88221336_88221340dup, NC_000016.9:g.88221333_88221340dup, NC_000016.9:g.88221332_88221340dup, NC_000016.9:g.88221329_88221340dup, NC_000016.9:g.88221328_88221340dup, NC_000016.9:g.88221327_88221340dup, NC_000016.9:g.88221326_88221340dup, NC_000016.9:g.88221324_88221340dup, NC_000016.9:g.88221322_88221340dup

Select item 14907982366.

rs1490798236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:88177044 (GRCh38)
16:88210650 (GRCh37)
Canonical SPDI:: NC_000016.10:88177043:C:A,NC_000016.10:88177043:C:G,NC_000016.10:88177043:C:T
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.88177044C>A, NC_000016.10:g.88177044C>G, NC_000016.10:g.88177044C>T, NC_000016.9:g.88210650C>A, NC_000016.9:g.88210650C>G, NC_000016.9:g.88210650C>T

Select item 14904302387.

rs1490430238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:88178860 (GRCh38)
16:88212466 (GRCh37)
Canonical SPDI:: NC_000016.10:88178859:G:A,NC_000016.10:88178859:G:C
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.88178860G>A, NC_000016.10:g.88178860G>C, NC_000016.9:g.88212466G>A, NC_000016.9:g.88212466G>C

Select item 14904282678.

rs1490428267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:88182936 (GRCh38)
16:88216542 (GRCh37)
Canonical SPDI:: NC_000016.10:88182935:T:G
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88182936T>G, NC_000016.9:g.88216542T>G, XR_007065176.1:n.3708A>C, XR_007065177.1:n.3061A>C

Select item 14903789629.

rs1490378962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:88177237 (GRCh38)
16:88210843 (GRCh37)
Canonical SPDI:: NC_000016.10:88177236:C:T
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.88177237C>T, NC_000016.9:g.88210843C>T

Select item 149010390510.

rs1490103905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:88180425 (GRCh38)
16:88214031 (GRCh37)
Canonical SPDI:: NC_000016.10:88180424:T:C
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.88180425T>C, NC_000016.9:g.88214031T>C

Select item 148988830311.

rs1489888303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:88178109 (GRCh38)
16:88211715 (GRCh37)
Canonical SPDI:: NC_000016.10:88178108:G:T
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88178109G>T, NC_000016.9:g.88211715G>T

Select item 148972455212.

rs1489724552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:88184442 (GRCh38)
16:88218048 (GRCh37)
Canonical SPDI:: NC_000016.10:88184441:A:C
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.88184442A>C, NC_000016.9:g.88218048A>C, XR_007065176.1:n.2318T>G, XR_007065177.1:n.2318T>G

Select item 148959921313.

rs1489599213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88185803 (GRCh38)
16:88219409 (GRCh37)
Canonical SPDI:: NC_000016.10:88185802:A:G
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.88185803A>G, NC_000016.9:g.88219409A>G, XR_007065176.1:n.957T>C, XR_007065177.1:n.957T>C

Select item 148938848514.

rs1489388485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:88187755 (GRCh38)
16:88221361 (GRCh37)
Canonical SPDI:: NC_000016.10:88187754:A:C
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000153/21 (GnomAD)
C=0.003333/2 (NorthernSweden)
HGVS:: NC_000016.10:g.88187755A>C, NC_000016.9:g.88221361A>C

Select item 148905782815.

rs1489057828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:88178291 (GRCh38)
16:88211897 (GRCh37)
Canonical SPDI:: NC_000016.10:88178290:A:T
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000686/2 (KOREAN)
HGVS:: NC_000016.10:g.88178291A>T, NC_000016.9:g.88211897A>T

Select item 148892379116.

rs1488923791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88187843 (GRCh38)
16:88221449 (GRCh37)
Canonical SPDI:: NC_000016.10:88187842:A:G
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000354/6 (TOMMO)
G=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.88187843A>G, NC_000016.9:g.88221449A>G

Select item 148881248817.

rs1488812488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:88188508 (GRCh38)
16:88222114 (GRCh37)
Canonical SPDI:: NC_000016.10:88188507:G:T
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.88188508G>T, NC_000016.9:g.88222114G>T

Select item 148875054018.

rs1488750540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:88176966 (GRCh38)
16:88210572 (GRCh37)
Canonical SPDI:: NC_000016.10:88176965:G:A
Gene:: ZNF469 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.88176966G>A, NC_000016.9:g.88210572G>A

Select item 148858213619.

rs1488582136 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88187429 (GRCh38)
16:88221035 (GRCh37)
Canonical SPDI:: NC_000016.10:88187428:A:G
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_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_000016.10:g.88187429A>G, NC_000016.9:g.88221035A>G

Select item 148852556020.

rs1488525560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:88183645 (GRCh38)
16:88217251 (GRCh37)
Canonical SPDI:: NC_000016.10:88183644:A:G
Gene:: ZNF469 (Varview), LOC105371401 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.88183645A>G, NC_000016.9:g.88217251A>G

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