SNP Links for Gene (Select 7767) - SNP

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Select item 14914434681.

rs1491443468 has merged into rs555003090 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:44093414 (GRCh38)
19:44597567 (GRCh37)
Canonical SPDI:: NC_000019.10:44093402:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:44093402:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:44093402:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:44093402:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:44093402:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:44093402:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ZNF224 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0621/311 (1000Genomes)
HGVS:: NC_000019.10:g.44093414_44093416del, NC_000019.10:g.44093415_44093416del, NC_000019.10:g.44093416del, NC_000019.10:g.44093416dup, NC_000019.10:g.44093415_44093416dup, NC_000019.10:g.44093413_44093416dup, NC_000019.9:g.44597567_44597569del, NC_000019.9:g.44597568_44597569del, NC_000019.9:g.44597569del, NC_000019.9:g.44597569dup, NC_000019.9:g.44597568_44597569dup, NC_000019.9:g.44597566_44597569dup, NG_051221.1:g.4086_4088del, NG_051221.1:g.4087_4088del, NG_051221.1:g.4088del, NG_051221.1:g.4088dup, NG_051221.1:g.4087_4088dup, NG_051221.1:g.4085_4088dup

Select item 14914064012.

rs1491406401 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:44093710 (GRCh38)
19:44597863 (GRCh37)
Canonical SPDI:: NC_000019.10:44093709:AC:
Gene:: ZNF224 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000498/7 (ALFA)
-=0.000416/110 (TOPMED)
-=0.000578/1 (Korea1K)
-=0.000785/61 (GnomAD)
-=0.003114/48 (TOMMO)
HGVS:: NC_000019.10:g.44093710_44093711del, NC_000019.9:g.44597863_44597864del, NG_051221.1:g.4382_4383del

Select item 14912162953.

rs1491216295 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:44093402 (GRCh38)
19:44597555 (GRCh37)
Canonical SPDI:: NC_000019.10:44093401:CA:
Gene:: ZNF224 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.44093402_44093403del, NC_000019.9:g.44597555_44597556del, NG_051221.1:g.4074_4075del

Select item 14908878364.

rs1490887836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44098512 (GRCh38)
19:44602665 (GRCh37)
Canonical SPDI:: NC_000019.10:44098511:C:T
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44098512C>T, NC_000019.9:g.44602665C>T, NG_051221.1:g.9184C>T

Select item 14908114585.

rs1490811458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44105495 (GRCh38)
19:44609648 (GRCh37)
Canonical SPDI:: NC_000019.10:44105494:G:A
Gene:: ZNF224 (Varview), ZNF225-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.44105495G>A, NC_000019.9:g.44609648G>A, NG_051221.1:g.16167G>A, NR_033341.1:n.3205C>T, NM_005774.1:c.-922G>A

Select item 14907787896.

rs1490778789 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:44095927 (GRCh38)
19:44600081 (GRCh37)
Canonical SPDI:: NC_000019.10:44095927::C
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000444/62 (GnomAD)
C=0.000586/155 (TOPMED)
HGVS:: NC_000019.10:g.44095927_44095928insC, NC_000019.9:g.44600080_44600081insC, NG_051221.1:g.6599_6600insC

Select item 14904381667.

rs1490438166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44096318 (GRCh38)
19:44600471 (GRCh37)
Canonical SPDI:: NC_000019.10:44096317:T:C
Gene:: ZNF224 (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_000019.10:g.44096318T>C, NC_000019.9:g.44600471T>C, NG_051221.1:g.6990T>C

Select item 14902836578.

rs1490283657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44094659 (GRCh38)
19:44598812 (GRCh37)
Canonical SPDI:: NC_000019.10:44094658:G:A
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.44094659G>A, NC_000019.9:g.44598812G>A, NG_051221.1:g.5331G>A

Select item 14899080359.

rs1489908035 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148986320910.

rs1489863209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:44093855 (GRCh38)
19:44598008 (GRCh37)
Canonical SPDI:: NC_000019.10:44093854:C:A
Gene:: ZNF224 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44093855C>A, NC_000019.9:g.44598008C>A, NG_051221.1:g.4527C>A

Select item 148979510411.

rs1489795104 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:44093460 (GRCh38)
19:44597614 (GRCh37)
Canonical SPDI:: NC_000019.10:44093460:T:TT
Gene:: ZNF224 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44093461dup, NC_000019.9:g.44597614dup, NG_051221.1:g.4133dup

Select item 148972343412.

rs1489723434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:44103586 (GRCh38)
19:44607739 (GRCh37)
Canonical SPDI:: NC_000019.10:44103585:G:T
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.44103586G>T, NC_000019.9:g.44607739G>T, NG_051221.1:g.14258G>T

Select item 148969221813.

rs1489692218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44102322 (GRCh38)
19:44606475 (GRCh37)
Canonical SPDI:: NC_000019.10:44102321:C:T
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44102322C>T, NC_000019.9:g.44606475C>T, NG_051221.1:g.12994C>T

Select item 148925639514.

rs1489256395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:44094274 (GRCh38)
19:44598427 (GRCh37)
Canonical SPDI:: NC_000019.10:44094273:G:C
Gene:: ZNF224 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.44094274G>C, NC_000019.9:g.44598427G>C, NG_051221.1:g.4946G>C

Select item 148892059715.

rs1488920597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:44107802 (GRCh38)
19:44611955 (GRCh37)
Canonical SPDI:: NC_000019.10:44107801:A:C
Gene:: ZNF224 (Varview), ZNF225-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44107802A>C, NC_000019.9:g.44611955A>C, NG_051221.1:g.18474A>C, NM_013398.5:c.1642A>C, NM_013398.4:c.1642A>C, NM_013398.3:c.1642A>C, NM_013398.2:c.1642A>C, NM_001321645.3:c.1642A>C, NM_001321645.2:c.1642A>C, NM_001321645.1:c.1642A>C, NR_033341.1:n.898T>G, NM_005774.1:c.1390A>C, NP_037530.2:p.Ser548Arg, NP_001308574.1:p.Ser548Arg

Select item 148870498416.

rs1488704984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:44101730 (GRCh38)
19:44605883 (GRCh37)
Canonical SPDI:: NC_000019.10:44101729:T:A
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.44101730T>A, NC_000019.9:g.44605883T>A, NG_051221.1:g.12402T>A

Select item 148865429417.

rs1488654294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:44102962 (GRCh38)
19:44607115 (GRCh37)
Canonical SPDI:: NC_000019.10:44102961:G:A,NC_000019.10:44102961:G:C
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44102962G>A, NC_000019.10:g.44102962G>C, NC_000019.9:g.44607115G>A, NC_000019.9:g.44607115G>C, NG_051221.1:g.13634G>A, NG_051221.1:g.13634G>C

Select item 148864759618.

rs1488647596 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTAT>- [Show Flanks]
Chromosome:: 19:44103660 (GRCh38)
19:44607813 (GRCh37)
Canonical SPDI:: NC_000019.10:44103656:TATCTAT:TAT
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44103660_44103663del, NC_000019.9:g.44607813_44607816del, NG_051221.1:g.14332_14335del

Select item 148861795019.

rs1488617950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44093286 (GRCh38)
19:44597439 (GRCh37)
Canonical SPDI:: NC_000019.10:44093285:C:T
Gene:: ZNF224 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44093286C>T, NC_000019.9:g.44597439C>T, NG_051221.1:g.3958C>T

Select item 148850592820.

rs1488505928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44100153 (GRCh38)
19:44604306 (GRCh37)
Canonical SPDI:: NC_000019.10:44100152:G:A
Gene:: ZNF224 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.44100153G>A, NC_000019.9:g.44604306G>A, NG_051221.1:g.10825G>A

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