SNP Links for Gene (Select 89887) - SNP

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Select item 14913910341.

rs1491391034 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:55477364 (GRCh38)
19:55988732 (GRCh37)
Canonical SPDI:: NC_000019.10:55477364::G
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000022/1 (GnomAD)
HGVS:: NC_000019.10:g.55477364_55477365insG, NC_000019.9:g.55988731_55988732insG

Select item 14911663162.

rs1491166316 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:55480249 (GRCh38)
19:55991616 (GRCh37)
Canonical SPDI:: NC_000019.10:55480248:CT:
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00023/10 (GnomAD)
HGVS:: NC_000019.10:g.55480249_55480250del, NC_000019.9:g.55991616_55991617del

Select item 14906214823.

rs1490621482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55481607 (GRCh38)
19:55992974 (GRCh37)
Canonical SPDI:: NC_000019.10:55481606:C:T
Gene:: ZNF628 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55481607C>T, NC_000019.9:g.55992974C>T, NM_033113.3:c.414C>T, NM_033113.2:c.414C>T

Select item 14902378594.

rs1490237859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55482087 (GRCh38)
19:55993454 (GRCh37)
Canonical SPDI:: NC_000019.10:55482086:T:C
Gene:: ZNF628 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.55482087T>C, NC_000019.9:g.55993454T>C, NG_080864.1:g.66T>C, NM_033113.3:c.894T>C, NM_033113.2:c.894T>C

Select item 14902141915.

rs1490214191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:55480431 (GRCh38)
19:55991799 (GRCh37)
Canonical SPDI:: NC_000019.10:55480431:TTTTTT:TTTTTTT
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55480437dup, NC_000019.9:g.55991804dup

Select item 14899625586.

rs1489962558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55475382 (GRCh38)
19:55986749 (GRCh37)
Canonical SPDI:: NC_000019.10:55475381:T:C
Gene:: ZNF628 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.55475382T>C, NC_000019.9:g.55986749T>C

Select item 14898965977.

rs1489896597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55476846 (GRCh38)
19:55988213 (GRCh37)
Canonical SPDI:: NC_000019.10:55476845:G:A
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000566/1 (Korea1K)
HGVS:: NC_000019.10:g.55476846G>A, NC_000019.9:g.55988213G>A

Select item 14898562778.

rs1489856277 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55479521 (GRCh38)
19:55990888 (GRCh37)
Canonical SPDI:: NC_000019.10:55479520:C:G
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55479521C>G, NC_000019.9:g.55990888C>G

Select item 14895950859.

rs1489595085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55477936 (GRCh38)
19:55989303 (GRCh37)
Canonical SPDI:: NC_000019.10:55477935:A:G
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_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_000019.10:g.55477936A>G, NC_000019.9:g.55989303A>G

Select item 148950927310.

rs1489509273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:55482411 (GRCh38)
19:55993778 (GRCh37)
Canonical SPDI:: NC_000019.10:55482410:G:A,NC_000019.10:55482410:G:T
Gene:: ZNF628 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000019.10:g.55482411G>A, NC_000019.10:g.55482411G>T, NC_000019.9:g.55993778G>A, NC_000019.9:g.55993778G>T, NG_080864.1:g.390G>A, NG_080864.1:g.390G>T, NM_033113.3:c.1218G>A, NM_033113.3:c.1218G>T, NM_033113.2:c.1218G>A, NM_033113.2:c.1218G>T, NP_149104.3:p.Gln406His

Select item 148949429611.

rs1489494296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55482024 (GRCh38)
19:55993391 (GRCh37)
Canonical SPDI:: NC_000019.10:55482023:C:T
Gene:: ZNF628 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55482024C>T, NC_000019.9:g.55993391C>T, NG_080864.1:g.3C>T, NM_033113.3:c.831C>T, NM_033113.2:c.831C>T

Select item 148944838612.

rs1489448386 has merged into rs1004894255 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC [Show Flanks]
Chromosome:: 19:55484737 (GRCh38)
19:55996104 (GRCh37)
Canonical SPDI:: NC_000019.10:55484736:CCCCCC:CCCCC,NC_000019.10:55484736:CCCCCC:CCCCCCC,NC_000019.10:55484736:CCCCCC:CCCCCCCC
Gene:: NAT14 (Varview), ZNF628 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
C=0.00042/7 (TOMMO)
-=0.00067/3 (Estonian)
-=0.00218/4 (Korea1K)
HGVS:: NC_000019.10:g.55484742del, NC_000019.10:g.55484742dup, NC_000019.10:g.55484741_55484742dup, NC_000019.9:g.55996109del, NC_000019.9:g.55996109dup, NC_000019.9:g.55996108_55996109dup, NG_027671.2:g.1240del, NG_027671.2:g.1240dup, NG_027671.2:g.1239_1240dup

Select item 148900998313.

rs1489009983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55478278 (GRCh38)
19:55989645 (GRCh37)
Canonical SPDI:: NC_000019.10:55478277:G:A
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.55478278G>A, NC_000019.9:g.55989645G>A

Select item 148900054814.

rs1489000548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:55476835 (GRCh38)
19:55988202 (GRCh37)
Canonical SPDI:: NC_000019.10:55476834:G:A,NC_000019.10:55476834:G:C
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.55476835G>A, NC_000019.10:g.55476835G>C, NC_000019.9:g.55988202G>A, NC_000019.9:g.55988202G>C

Select item 148868047615.

rs1488680476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:55477922 (GRCh38)
19:55989289 (GRCh37)
Canonical SPDI:: NC_000019.10:55477921:T:A
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.55477922T>A, NC_000019.9:g.55989289T>A

Select item 148841595616.

rs1488415956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55476971 (GRCh38)
19:55988338 (GRCh37)
Canonical SPDI:: NC_000019.10:55476970:G:A
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.01/6 (NorthernSweden)
HGVS:: NC_000019.10:g.55476971G>A, NC_000019.9:g.55988338G>A

Select item 148826801817.

rs1488268018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55474804 (GRCh38)
19:55986171 (GRCh37)
Canonical SPDI:: NC_000019.10:55474803:G:A
Gene:: ZNF628 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.55474804G>A, NC_000019.9:g.55986171G>A

Select item 148793421718.

rs1487934217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55483390 (GRCh38)
19:55994757 (GRCh37)
Canonical SPDI:: NC_000019.10:55483389:C:T
Gene:: NAT14 (Varview), ZNF628 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55483390C>T, NC_000019.9:g.55994757C>T, NM_033113.3:c.2197C>T, NM_033113.2:c.2197C>T, NP_149104.3:p.Pro733Ser

Select item 148787035919.

rs1487870359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55477702 (GRCh38)
19:55989069 (GRCh37)
Canonical SPDI:: NC_000019.10:55477701:C:T
Gene:: ZNF628 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55477702C>T, NC_000019.9:g.55989069C>T

Select item 148777859020.

rs1487778590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:55482093 (GRCh38)
19:55993460 (GRCh37)
Canonical SPDI:: NC_000019.10:55482092:C:G,NC_000019.10:55482092:C:T
Gene:: ZNF628 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55482093C>G, NC_000019.10:g.55482093C>T, NC_000019.9:g.55993460C>G, NC_000019.9:g.55993460C>T, NG_080864.1:g.72C>G, NG_080864.1:g.72C>T, NM_033113.3:c.900C>G, NM_033113.3:c.900C>T, NM_033113.2:c.900C>G, NM_033113.2:c.900C>T, NP_149104.3:p.Cys300Trp

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