SNP Links for Gene (Select 199704) - SNP

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Select item 14914320631.

rs1491432063 has merged into rs3050605 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 19:37146951 (GRCh38)
19:37637853 (GRCh37)
Canonical SPDI:: NC_000019.10:37146949:TGT:T,NC_000019.10:37146949:TGT:TGTGT
Gene:: ZNF585A (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.318505/4475 (ALFA)
-=0.097561/20 (Vietnamese)
-=0.126761/2125 (TOMMO)
-=0.3/12 (GENOME_DK)
-=0.300824/79625 (TOPMED)
-=0.315/189 (NorthernSweden)
-=0.410741/42814 (GnomAD)
-=0.488978/488 (GoNL)
HGVS:: NC_000019.10:g.37146951_37146952del, NC_000019.10:g.37146951_37146952dup, NC_000019.9:g.37637853_37637854del, NC_000019.9:g.37637853_37637854dup, NM_152655.4:c.*4638_*4639del, NM_152655.4:c.*4638_*4639dup, NM_199126.3:c.*4638_*4639del, NM_199126.3:c.*4638_*4639dup, NM_001288800.2:c.*4638_*4639del, NM_001288800.2:c.*4638_*4639dup

Select item 14913954452.

rs1491395445 has merged into rs1214141205 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 19:37167591 (GRCh38)
19:37658493 (GRCh37)
Canonical SPDI:: NC_000019.10:37167588:TTTTT:TT,NC_000019.10:37167588:TTTTT:TTT,NC_000019.10:37167588:TTTTT:TTTT,NC_000019.10:37167588:TTTTT:TTTTTTTT,NC_000019.10:37167588:TTTTT:TTTTTTTTTT
Gene:: ZNF585A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000019.10:g.37167591_37167593del, NC_000019.10:g.37167592_37167593del, NC_000019.10:g.37167593del, NC_000019.10:g.37167591_37167593dup, NC_000019.10:g.37167589_37167593dup, NC_000019.9:g.37658493_37658495del, NC_000019.9:g.37658494_37658495del, NC_000019.9:g.37658495del, NC_000019.9:g.37658493_37658495dup, NC_000019.9:g.37658491_37658495dup

Select item 14908373713.

rs1490837371 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCTCGGGTCATCTGCCCATCTG>- [Show Flanks]
Chromosome:: 19:37162153 (GRCh38)
19:37653055 (GRCh37)
Canonical SPDI:: NC_000019.10:37162149:CTGACCTCGGGTCATCTGCCCATCTG:CTG
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37162153_37162175del, NC_000019.9:g.37653055_37653077del

Select item 14908245214.

rs1490824521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:37160996 (GRCh38)
19:37651898 (GRCh37)
Canonical SPDI:: NC_000019.10:37160995:T:G
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.37160996T>G, NC_000019.9:g.37651898T>G

Select item 14904183475.

rs1490418347 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:37170205 (GRCh38)
19:37661107 (GRCh37)
Canonical SPDI:: NC_000019.10:37170204:G:
Gene:: ZNF585A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37170205del, NC_000019.9:g.37661107del

Select item 14904050666.

rs1490405066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:37168905 (GRCh38)
19:37659807 (GRCh37)
Canonical SPDI:: NC_000019.10:37168904:A:G
Gene:: ZNF585A (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.37168905A>G, NC_000019.9:g.37659807A>G

Select item 14903901757.

rs1490390175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:37153923 (GRCh38)
19:37644825 (GRCh37)
Canonical SPDI:: NC_000019.10:37153922:C:A,NC_000019.10:37153922:C:G
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37153923C>A, NC_000019.10:g.37153923C>G, NC_000019.9:g.37644825C>A, NC_000019.9:g.37644825C>G

Select item 14902401848.

rs1490240184 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:37168338 (GRCh38)
19:37659241 (GRCh37)
Canonical SPDI:: NC_000019.10:37168338:C:CC
Gene:: ZNF585A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.37168339dup, NC_000019.9:g.37659241dup

Select item 14901973239.

rs1490197323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37152002 (GRCh38)
19:37642904 (GRCh37)
Canonical SPDI:: NC_000019.10:37152001:G:A
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37152002G>A, NC_000019.9:g.37642904G>A, NM_152655.4:c.1732C>T, NM_152655.3:c.1732C>T, NM_152655.2:c.1732C>T, NM_199126.3:c.1732C>T, NM_199126.2:c.1732C>T, NM_199126.1:c.1732C>T, NM_001288800.2:c.1897C>T, NM_001288800.1:c.1897C>T, NP_689868.1:p.Pro578Ser, NP_954577.1:p.Pro578Ser, NP_001275729.1:p.Pro633Ser

Select item 148985538810.

rs1489855388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:37158693 (GRCh38)
19:37649595 (GRCh37)
Canonical SPDI:: NC_000019.10:37158692:A:G
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37158693A>G, NC_000019.9:g.37649595A>G

Select item 148976408511.

rs1489764085 has merged into rs148963406 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAAATAAATAAATAAATAAATAA>-,ATAA,ATAAATAA,ATAAATAAATAA,ATAAATAAATAAATAA,ATAAATAAATAAATAAATAA,ATAAATAAATAAATAAATAAATAAATAA,ATAAATAAATAAATAAATAAATAAATAAATAA,ATAAATAAATAAATAAATAAATAAATAAATAAATAA [Show Flanks]
Chromosome:: 19:37160366 (GRCh38)
19:37651268 (GRCh37)
Canonical SPDI:: NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA,NC_000019.10:37160343:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAA
Gene:: ZNF585A (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAATAAATAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.37160346ATAA[5], NC_000019.10:g.37160346ATAA[6], NC_000019.10:g.37160346ATAA[7], NC_000019.10:g.37160346ATAA[8], NC_000019.10:g.37160346ATAA[9], NC_000019.10:g.37160346ATAA[10], NC_000019.10:g.37160346ATAA[12], NC_000019.10:g.37160346ATAA[13], NC_000019.10:g.37160346ATAA[14], NC_000019.9:g.37651248ATAA[5], NC_000019.9:g.37651248ATAA[6], NC_000019.9:g.37651248ATAA[7], NC_000019.9:g.37651248ATAA[8], NC_000019.9:g.37651248ATAA[9], NC_000019.9:g.37651248ATAA[10], NC_000019.9:g.37651248ATAA[12], NC_000019.9:g.37651248ATAA[13], NC_000019.9:g.37651248ATAA[14]

Select item 148933993812.

rs1489339938 [Homo sapiens]

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

Select item 148918161413.

rs1489181614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:37172501 (GRCh38)
19:37663403 (GRCh37)
Canonical SPDI:: NC_000019.10:37172500:T:A
Gene:: ZNF585A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.37172501T>A, NC_000019.9:g.37663403T>A

Select item 148912508414.

rs1489125084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:37147015 (GRCh38)
19:37637917 (GRCh37)
Canonical SPDI:: NC_000019.10:37147014:T:G
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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.37147015T>G, NC_000019.9:g.37637917T>G, NM_152655.4:c.*4574A>C, NM_199126.3:c.*4574A>C, NM_001288800.2:c.*4574A>C

Select item 148907128215.

rs1489071282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37168983 (GRCh38)
19:37659885 (GRCh37)
Canonical SPDI:: NC_000019.10:37168982:G:A
Gene:: ZNF585A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37168983G>A, NC_000019.9:g.37659885G>A

Select item 148888851316.

rs1488888513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37151957 (GRCh38)
19:37642859 (GRCh37)
Canonical SPDI:: NC_000019.10:37151956:T:C
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.37151957T>C, NC_000019.9:g.37642859T>C, NM_152655.4:c.1777A>G, NM_152655.3:c.1777A>G, NM_152655.2:c.1777A>G, NM_199126.3:c.1777A>G, NM_199126.2:c.1777A>G, NM_199126.1:c.1777A>G, NM_001288800.2:c.1942A>G, NM_001288800.1:c.1942A>G, NP_689868.1:p.Asn593Asp, NP_954577.1:p.Asn593Asp, NP_001275729.1:p.Asn648Asp

Select item 148888143117.

rs1488881431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37151102 (GRCh38)
19:37642004 (GRCh37)
Canonical SPDI:: NC_000019.10:37151101:G:A
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37151102G>A, NC_000019.9:g.37642004G>A, NM_152655.4:c.*487C>T, NM_152655.3:c.*487C>T, NM_152655.2:c.*487C>T, NM_199126.3:c.*487C>T, NM_199126.2:c.*487C>T, NM_199126.1:c.*487C>T, NM_001288800.2:c.*487C>T, NM_001288800.1:c.*487C>T

Select item 148886051118.

rs1488860511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:37171096 (GRCh38)
19:37661998 (GRCh37)
Canonical SPDI:: NC_000019.10:37171095:A:C
Gene:: ZNF585A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.37171096A>C, NC_000019.9:g.37661998A>C

Select item 148883538819.

rs1488835388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:37162904 (GRCh38)
19:37653806 (GRCh37)
Canonical SPDI:: NC_000019.10:37162903:A:C
Gene:: ZNF585A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.37162904A>C, NC_000019.9:g.37653806A>C

Select item 148874552520.

rs1488745525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37167048 (GRCh38)
19:37657950 (GRCh37)
Canonical SPDI:: NC_000019.10:37167047:G:A
Gene:: ZNF585A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37167048G>A, NC_000019.9:g.37657950G>A

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