SNP Links for Gene (Select 100130418) - SNP

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Items: 1 to 20 of 5210

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Select item 14914791911.

rs1491479191 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:17050531 (GRCh38)
22:17531421 (GRCh37)
Canonical SPDI:: NC_000022.11:17050528:CTCT:CT
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000283/5 (TOMMO)
HGVS:: NC_000022.11:g.17050529CT[1], NC_000022.10:g.17531419CT[1]

Select item 14914651942.

rs1491465194 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:17052320 (GRCh38)
22:17533210 (GRCh37)
Canonical SPDI:: NC_000022.11:17052318:ATA:A
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.17052320_17052321del, NC_000022.10:g.17533210_17533211del

Select item 14914513193.

rs1491451319 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCT [Show Flanks]
Chromosome:: 22:17050529 (GRCh38)
22:17531420 (GRCh37)
Canonical SPDI:: NC_000022.11:17050529:TCTGTCT:TCTGTCTGTCT
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGTCTGTCT=0./0 (ALFA)
TCTG=0.000019/5 (TOPMED)
TCTG=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.17050533_17050536dup, NC_000022.10:g.17531423_17531426dup

Select item 14914475684.

rs1491447568 has merged into rs57013474 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 22:17041909 (GRCh38)
22:17522799 (GRCh37)
Canonical SPDI:: NC_000022.11:17041895:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:17041895:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:17041895:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:17041895:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:17041895:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:17041895:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:17041895:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4331/2169 (1000Genomes)
A=0.475/19 (GENOME_DK)
HGVS:: NC_000022.11:g.17041909_17041912del, NC_000022.11:g.17041910_17041912del, NC_000022.11:g.17041911_17041912del, NC_000022.11:g.17041912del, NC_000022.11:g.17041912dup, NC_000022.11:g.17041911_17041912dup, NC_000022.11:g.17041910_17041912dup, NC_000022.10:g.17522799_17522802del, NC_000022.10:g.17522800_17522802del, NC_000022.10:g.17522801_17522802del, NC_000022.10:g.17522802del, NC_000022.10:g.17522802dup, NC_000022.10:g.17522801_17522802dup, NC_000022.10:g.17522800_17522802dup

Select item 14912883565.

rs1491288356 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:17041895 (GRCh38)
22:17522785 (GRCh37)
Canonical SPDI:: NC_000022.11:17041894:CA:
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.17041895_17041896del, NC_000022.10:g.17522785_17522786del

Select item 14911336566.

rs1491133656 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:17052319 (GRCh38)
22:17533210 (GRCh37)
Canonical SPDI:: NC_000022.11:17052319:T:TT
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000049/13 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.17052320dup, NC_000022.10:g.17533210dup

Select item 14910162417.

rs1491016241 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 22:17038483 (GRCh38)
22:17519373 (GRCh37)
Canonical SPDI:: NC_000022.11:17038481:GCG:G
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000432/8 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.17038483_17038484del, NC_000022.10:g.17519373_17519374del

Select item 14909049228.

rs1490904922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:17052483 (GRCh38)
22:17533373 (GRCh37)
Canonical SPDI:: NC_000022.11:17052482:A:G
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.17052483A>G, NC_000022.10:g.17533373A>G

Select item 14908980329.

rs1490898032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:17037676 (GRCh38)
22:17518566 (GRCh37)
Canonical SPDI:: NC_000022.11:17037675:G:C
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.17037676G>C, NC_000022.10:g.17518566G>C

Select item 149084741710.

rs1490847417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:17037056 (GRCh38)
22:17517946 (GRCh37)
Canonical SPDI:: NC_000022.11:17037055:G:C
Gene:: CECR7 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.17037056G>C, NC_000022.10:g.17517946G>C, NR_015352.2:n.487G>C, NR_015352.1:n.487G>C, NR_152825.1:n.487G>C, NR_152826.1:n.487G>C

Select item 149082758211.

rs1490827582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:17045059 (GRCh38)
22:17525949 (GRCh37)
Canonical SPDI:: NC_000022.11:17045058:G:C
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.17045059G>C, NC_000022.10:g.17525949G>C

Select item 149079124912.

rs1490791249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:17044017 (GRCh38)
22:17524907 (GRCh37)
Canonical SPDI:: NC_000022.11:17044016:G:A,NC_000022.11:17044016:G:T
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.17044017G>A, NC_000022.11:g.17044017G>T, NC_000022.10:g.17524907G>A, NC_000022.10:g.17524907G>T

Select item 149050861813.

rs1490508618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:17050632 (GRCh38)
22:17531522 (GRCh37)
Canonical SPDI:: NC_000022.11:17050631:G:A
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.17050632G>A, NC_000022.10:g.17531522G>A

Select item 149044066014.

rs1490440660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:17053479 (GRCh38)
22:17534369 (GRCh37)
Canonical SPDI:: NC_000022.11:17053478:G:C
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.17053479G>C, NC_000022.10:g.17534369G>C

Select item 149027829115.

rs1490278291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:17053727 (GRCh38)
22:17534617 (GRCh37)
Canonical SPDI:: NC_000022.11:17053726:C:T
Gene:: CECR7 (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_000022.11:g.17053727C>T, NC_000022.10:g.17534617C>T

Select item 149017725516.

rs1490177255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:17052651 (GRCh38)
22:17533541 (GRCh37)
Canonical SPDI:: NC_000022.11:17052650:C:A,NC_000022.11:17052650:C:T
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00045/2 (ALFA)
A=0.00032/9 (TOMMO)
HGVS:: NC_000022.11:g.17052651C>A, NC_000022.11:g.17052651C>T, NC_000022.10:g.17533541C>A, NC_000022.10:g.17533541C>T

Select item 149011026817.

rs1490110268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:17050320 (GRCh38)
22:17531210 (GRCh37)
Canonical SPDI:: NC_000022.11:17050319:C:T
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.17050320C>T, NC_000022.10:g.17531210C>T

Select item 149008146418.

rs1490081464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:17038074 (GRCh38)
22:17518964 (GRCh37)
Canonical SPDI:: NC_000022.11:17038073:C:G,NC_000022.11:17038073:C:T
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.17038074C>G, NC_000022.11:g.17038074C>T, NC_000022.10:g.17518964C>G, NC_000022.10:g.17518964C>T

Select item 148993826419.

rs1489938264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:17039512 (GRCh38)
22:17520402 (GRCh37)
Canonical SPDI:: NC_000022.11:17039511:T:G
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.0065/109 (TOMMO)
HGVS:: NC_000022.11:g.17039512T>G, NC_000022.10:g.17520402T>G

Select item 148990355920.

rs1489903559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:17038469 (GRCh38)
22:17519359 (GRCh37)
Canonical SPDI:: NC_000022.11:17038468:T:C,NC_000022.11:17038468:T:G
Gene:: CECR7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/3 (GnomAD)
G=0.00018/5 (TOMMO)
HGVS:: NC_000022.11:g.17038469T>C, NC_000022.11:g.17038469T>G, NC_000022.10:g.17519359T>C, NC_000022.10:g.17519359T>G

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