SNP Links for Gene (Select 51276) - SNP

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Select item 14911794561.

rs1491179456 has merged into rs146366264 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TGTG,TGTGTGTG [Show Flanks]
Chromosome:: 19:37595209 (GRCh38)
19:38086110 (GRCh37)
Canonical SPDI:: NC_000019.10:37595200:TGTGTGTGTGTGTG:TGTGTGTG,NC_000019.10:37595200:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000019.10:37595200:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG
Gene:: ZNF571 (Varview), ZNF540 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
-=0.000083/22 (TOPMED)
TG=0.000179/3 (TOMMO)
HGVS:: NC_000019.10:g.37595201TG[4], NC_000019.10:g.37595201TG[6], NC_000019.10:g.37595201TG[8], NC_000019.9:g.38086102TG[4], NC_000019.9:g.38086102TG[6], NC_000019.9:g.38086102TG[8]

Select item 14910308162.

rs1491030816 has merged into rs60136941 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:37589876 (GRCh38)
19:38080777 (GRCh37)
Canonical SPDI:: NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF571 (Varview), ZNF540 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.37589876_37589887del, NC_000019.10:g.37589877_37589887del, NC_000019.10:g.37589878_37589887del, NC_000019.10:g.37589879_37589887del, NC_000019.10:g.37589880_37589887del, NC_000019.10:g.37589881_37589887del, NC_000019.10:g.37589882_37589887del, NC_000019.10:g.37589883_37589887del, NC_000019.10:g.37589884_37589887del, NC_000019.10:g.37589885_37589887del, NC_000019.10:g.37589886_37589887del, NC_000019.10:g.37589887del, NC_000019.10:g.37589887dup, NC_000019.10:g.37589886_37589887dup, NC_000019.10:g.37589885_37589887dup, NC_000019.10:g.37589884_37589887dup, NC_000019.10:g.37589883_37589887dup, NC_000019.10:g.37589882_37589887dup, NC_000019.10:g.37589881_37589887dup, NC_000019.10:g.37589880_37589887dup, NC_000019.10:g.37589879_37589887dup, NC_000019.10:g.37589878_37589887dup, NC_000019.10:g.37589877_37589887dup, NC_000019.10:g.37589876_37589887dup, NC_000019.10:g.37589874_37589887dup, NC_000019.10:g.37589866_37589887dup, NC_000019.10:g.37589887_37589888insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38080777_38080788del, NC_000019.9:g.38080778_38080788del, NC_000019.9:g.38080779_38080788del, NC_000019.9:g.38080780_38080788del, NC_000019.9:g.38080781_38080788del, NC_000019.9:g.38080782_38080788del, NC_000019.9:g.38080783_38080788del, NC_000019.9:g.38080784_38080788del, NC_000019.9:g.38080785_38080788del, NC_000019.9:g.38080786_38080788del, NC_000019.9:g.38080787_38080788del, NC_000019.9:g.38080788del, NC_000019.9:g.38080788dup, NC_000019.9:g.38080787_38080788dup, NC_000019.9:g.38080786_38080788dup, NC_000019.9:g.38080785_38080788dup, NC_000019.9:g.38080784_38080788dup, NC_000019.9:g.38080783_38080788dup, NC_000019.9:g.38080782_38080788dup, NC_000019.9:g.38080781_38080788dup, NC_000019.9:g.38080780_38080788dup, NC_000019.9:g.38080779_38080788dup, NC_000019.9:g.38080778_38080788dup, NC_000019.9:g.38080777_38080788dup, NC_000019.9:g.38080775_38080788dup, NC_000019.9:g.38080767_38080788dup, NC_000019.9:g.38080788_38080789insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14908605543.

rs1490860554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37572341 (GRCh38)
19:38063243 (GRCh37)
Canonical SPDI:: NC_000019.10:37572340:T:C
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37572341T>C, NC_000019.9:g.38063243T>C

Select item 14907525554.

rs1490752555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:37581020 (GRCh38)
19:38071921 (GRCh37)
Canonical SPDI:: NC_000019.10:37581019:T:G
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.37581020T>G, NC_000019.9:g.38071921T>G

Select item 14906063675.

rs1490606367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:37566135 (GRCh38)
19:38057037 (GRCh37)
Canonical SPDI:: NC_000019.10:37566134:C:T
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.37566135C>T, NC_000019.9:g.38057037C>T, NM_016536.5:c.293G>A, NM_016536.4:c.293G>A, NM_016536.3:c.293G>A, NM_001321272.2:c.293G>A, NM_001321272.1:c.293G>A, NM_001290314.2:c.293G>A, NM_001290314.1:c.293G>A, XM_017026858.2:c.191G>A, XM_017026858.1:c.191G>A, NP_057620.3:p.Gly98Asp, NP_001308201.1:p.Gly98Asp, NP_001277243.1:p.Gly98Asp, XP_016882347.1:p.Gly64Asp

Select item 14905164886.

rs1490516488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:37582496 (GRCh38)
19:38073397 (GRCh37)
Canonical SPDI:: NC_000019.10:37582495:C:T
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.37582496C>T, NC_000019.9:g.38073397C>T

Select item 14904337337.

rs1490433733 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:37586045 (GRCh38)
19:38076946 (GRCh37)
Canonical SPDI:: NC_000019.10:37586044:T:
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.0001/14 (GnomAD)
HGVS:: NC_000019.10:g.37586045del, NC_000019.9:g.38076946del, NR_038247.1:n.1472del, NR_038248.1:n.1383del, NR_038249.1:n.1208del, NR_038250.1:n.1149del

Select item 14901917298.

rs1490191729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:37581466 (GRCh38)
19:38072367 (GRCh37)
Canonical SPDI:: NC_000019.10:37581465:C:T
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.01608/47 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.37581466C>T, NC_000019.9:g.38072367C>T

Select item 14899576009.

rs1489957600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37563823 (GRCh38)
19:38054725 (GRCh37)
Canonical SPDI:: NC_000019.10:37563822:T:C
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37563823T>C, NC_000019.9:g.38054725T>C

Select item 148994342310.

rs1489943423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37584953 (GRCh38)
19:38075854 (GRCh37)
Canonical SPDI:: NC_000019.10:37584952:G:A
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000064/8 (GnomAD)
HGVS:: NC_000019.10:g.37584953G>A, NC_000019.9:g.38075854G>A

Select item 148983981511.

rs1489839815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:37571840 (GRCh38)
19:38062742 (GRCh37)
Canonical SPDI:: NC_000019.10:37571839:C:T
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.37571840C>T, NC_000019.9:g.38062742C>T

Select item 148980580112.

rs1489805801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37588934 (GRCh38)
19:38079835 (GRCh37)
Canonical SPDI:: NC_000019.10:37588933:T:C
Gene:: ZNF571 (Varview), ZNF540 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.37588934T>C, NC_000019.9:g.38079835T>C

Select item 148979656113.

rs1489796561 has merged into rs60136941 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:37589876 (GRCh38)
19:38080777 (GRCh37)
Canonical SPDI:: NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:37589864:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF571 (Varview), ZNF540 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.37589876_37589887del, NC_000019.10:g.37589877_37589887del, NC_000019.10:g.37589878_37589887del, NC_000019.10:g.37589879_37589887del, NC_000019.10:g.37589880_37589887del, NC_000019.10:g.37589881_37589887del, NC_000019.10:g.37589882_37589887del, NC_000019.10:g.37589883_37589887del, NC_000019.10:g.37589884_37589887del, NC_000019.10:g.37589885_37589887del, NC_000019.10:g.37589886_37589887del, NC_000019.10:g.37589887del, NC_000019.10:g.37589887dup, NC_000019.10:g.37589886_37589887dup, NC_000019.10:g.37589885_37589887dup, NC_000019.10:g.37589884_37589887dup, NC_000019.10:g.37589883_37589887dup, NC_000019.10:g.37589882_37589887dup, NC_000019.10:g.37589881_37589887dup, NC_000019.10:g.37589880_37589887dup, NC_000019.10:g.37589879_37589887dup, NC_000019.10:g.37589878_37589887dup, NC_000019.10:g.37589877_37589887dup, NC_000019.10:g.37589876_37589887dup, NC_000019.10:g.37589874_37589887dup, NC_000019.10:g.37589866_37589887dup, NC_000019.10:g.37589887_37589888insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.38080777_38080788del, NC_000019.9:g.38080778_38080788del, NC_000019.9:g.38080779_38080788del, NC_000019.9:g.38080780_38080788del, NC_000019.9:g.38080781_38080788del, NC_000019.9:g.38080782_38080788del, NC_000019.9:g.38080783_38080788del, NC_000019.9:g.38080784_38080788del, NC_000019.9:g.38080785_38080788del, NC_000019.9:g.38080786_38080788del, NC_000019.9:g.38080787_38080788del, NC_000019.9:g.38080788del, NC_000019.9:g.38080788dup, NC_000019.9:g.38080787_38080788dup, NC_000019.9:g.38080786_38080788dup, NC_000019.9:g.38080785_38080788dup, NC_000019.9:g.38080784_38080788dup, NC_000019.9:g.38080783_38080788dup, NC_000019.9:g.38080782_38080788dup, NC_000019.9:g.38080781_38080788dup, NC_000019.9:g.38080780_38080788dup, NC_000019.9:g.38080779_38080788dup, NC_000019.9:g.38080778_38080788dup, NC_000019.9:g.38080777_38080788dup, NC_000019.9:g.38080775_38080788dup, NC_000019.9:g.38080767_38080788dup, NC_000019.9:g.38080788_38080789insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148961090114.

rs1489610901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:37571331 (GRCh38)
19:38062233 (GRCh37)
Canonical SPDI:: NC_000019.10:37571330:A:C,NC_000019.10:37571330:A:T
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000014/2 (GnomAD)
T=0.000684/2 (KOREAN)
T=0.000991/17 (TOMMO)
HGVS:: NC_000019.10:g.37571331A>C, NC_000019.10:g.37571331A>T, NC_000019.9:g.38062233A>C, NC_000019.9:g.38062233A>T

Select item 148958062015.

rs1489580620 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:37569963 (GRCh38)
19:38060865 (GRCh37)
Canonical SPDI:: NC_000019.10:37569962:A:C,NC_000019.10:37569962:A:G
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37569963A>C, NC_000019.10:g.37569963A>G, NC_000019.9:g.38060865A>C, NC_000019.9:g.38060865A>G, NR_038247.1:n.380A>C, NR_038247.1:n.380A>G, NR_038248.1:n.643A>C, NR_038248.1:n.643A>G, NR_038249.1:n.468A>C, NR_038249.1:n.468A>G, NR_038250.1:n.409A>C, NR_038250.1:n.409A>G

Select item 148945345116.

rs1489453451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:37582551 (GRCh38)
19:38073452 (GRCh37)
Canonical SPDI:: NC_000019.10:37582550:G:C
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.37582551G>C, NC_000019.9:g.38073452G>C

Select item 148944295917.

rs1489442959 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 19:37583219 (GRCh38)
19:38074120 (GRCh37)
Canonical SPDI:: NC_000019.10:37583214:TCCTCCT:TCCT
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.37583216CCT[1], NC_000019.9:g.38074117CCT[1]

Select item 148941281918.

rs1489412819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:37584364 (GRCh38)
19:38075265 (GRCh37)
Canonical SPDI:: NC_000019.10:37584363:G:A
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.37584364G>A, NC_000019.9:g.38075265G>A

Select item 148926735519.

rs1489267355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:37594758 (GRCh38)
19:38085659 (GRCh37)
Canonical SPDI:: NC_000019.10:37594757:G:A,NC_000019.10:37594757:G:T
Gene:: ZNF571 (Varview), ZNF540 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,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)
HGVS:: NC_000019.10:g.37594758G>A, NC_000019.10:g.37594758G>T, NC_000019.9:g.38085659G>A, NC_000019.9:g.38085659G>T, NM_016536.5:c.-87C>T, NM_016536.5:c.-87C>A, NM_016536.4:c.-87C>T, NM_016536.4:c.-87C>A, NM_016536.3:c.-87C>T, NM_016536.3:c.-87C>A, NM_001321272.2:c.-741C>T, NM_001321272.2:c.-741C>A, NM_001290314.2:c.-187C>T, NM_001290314.2:c.-187C>A, NM_001290314.1:c.-187C>T, NM_001290314.1:c.-187C>A, XM_017026858.2:c.-172C>T, XM_017026858.2:c.-172C>A, XM_017026858.1:c.-172C>T, XM_017026858.1:c.-172C>A

Select item 148926253420.

rs1489262534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:37565600 (GRCh38)
19:38056502 (GRCh37)
Canonical SPDI:: NC_000019.10:37565599:T:C
Gene:: ZNF571 (Varview), ZNF540 (Varview), ZNF571-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.37565600T>C, NC_000019.9:g.38056502T>C, NM_016536.5:c.828A>G, NM_016536.4:c.828A>G, NM_016536.3:c.828A>G, NM_001321272.2:c.828A>G, NM_001321272.1:c.828A>G, NM_001290314.2:c.828A>G, NM_001290314.1:c.828A>G, XM_017026858.2:c.726A>G, XM_017026858.1:c.726A>G

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