SNP Links for Gene (Select 348327) - SNP

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Select item 14912508851.

rs1491250885 has merged into rs57429926 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:57610428 (GRCh38)
19:58121796 (GRCh37)
Canonical SPDI:: NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:57610412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ZNF530 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1316/507 (ALSPAC)
-=0.1502/557 (TWINSUK)
HGVS:: NC_000019.10:g.57610414GT[7], NC_000019.10:g.57610414GT[10], NC_000019.10:g.57610414GT[11], NC_000019.10:g.57610414GT[12], NC_000019.10:g.57610414GT[13], NC_000019.10:g.57610414GT[14], NC_000019.10:g.57610414GT[15], NC_000019.10:g.57610414GT[16], NC_000019.10:g.57610414GT[17], NC_000019.10:g.57610414GT[19], NC_000019.10:g.57610414GT[20], NC_000019.10:g.57610414GT[21], NC_000019.10:g.57610414GT[22], NC_000019.10:g.57610414GT[23], NC_000019.10:g.57610414GT[25], NC_000019.9:g.58121782GT[7], NC_000019.9:g.58121782GT[10], NC_000019.9:g.58121782GT[11], NC_000019.9:g.58121782GT[12], NC_000019.9:g.58121782GT[13], NC_000019.9:g.58121782GT[14], NC_000019.9:g.58121782GT[15], NC_000019.9:g.58121782GT[16], NC_000019.9:g.58121782GT[17], NC_000019.9:g.58121782GT[19], NC_000019.9:g.58121782GT[20], NC_000019.9:g.58121782GT[21], NC_000019.9:g.58121782GT[22], NC_000019.9:g.58121782GT[23], NC_000019.9:g.58121782GT[25]

Select item 14910963572.

rs1491096357 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: 19:57610410 (GRCh38)
19:58121779 (GRCh37)
Canonical SPDI:: NC_000019.10:57610410:T:TGT,NC_000019.10:57610410:T:TGTGT
Gene:: ZNF530 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000019.10:g.57610411_57610412insGT, NC_000019.10:g.57610411_57610412insGTGT, NC_000019.9:g.58121779_58121780insGT, NC_000019.9:g.58121779_58121780insGTGT

Select item 14904433333.

rs1490443333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:57610674 (GRCh38)
19:58122042 (GRCh37)
Canonical SPDI:: NC_000019.10:57610673:T:A,NC_000019.10:57610673:T:G
Gene:: ZNF530 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000057/15 (TOPMED)
A=0.000071/2 (TOMMO)
G=0.000086/12 (GnomAD)
HGVS:: NC_000019.10:g.57610674T>A, NC_000019.10:g.57610674T>G, NC_000019.9:g.58122042T>A, NC_000019.9:g.58122042T>G

Select item 14903116844.

rs1490311684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57611409 (GRCh38)
19:58122777 (GRCh37)
Canonical SPDI:: NC_000019.10:57611408:T:C
Gene:: ZNF530 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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.57611409T>C, NC_000019.9:g.58122777T>C

Select item 14898539475.

rs1489853947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:57605865 (GRCh38)
19:58117233 (GRCh37)
Canonical SPDI:: NC_000019.10:57605864:T:A
Gene:: ZNF530 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000096/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57605865T>A, NC_000019.9:g.58117233T>A, NM_020880.5:c.340T>A, NM_020880.4:c.340T>A, NM_020880.3:c.340T>A, NM_001321981.2:c.241T>A, NM_001321981.1:c.241T>A, NR_135923.2:n.560T>A, NR_135923.1:n.560T>A, NM_001387561.1:c.241T>A, NM_001387562.1:c.337T>A, NM_001387563.1:c.340T>A, NP_065931.3:p.Cys114Ser, NP_001308910.1:p.Cys81Ser, NP_001374490.1:p.Cys81Ser, NP_001374491.1:p.Cys113Ser, NP_001374492.1:p.Cys114Ser

Select item 14897951826.

rs1489795182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:57603715 (GRCh38)
19:58115083 (GRCh37)
Canonical SPDI:: NC_000019.10:57603714:C:T
Gene:: ZNF530 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57603715C>T, NC_000019.9:g.58115083C>T

Select item 14896703637.

rs1489670363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57607001 (GRCh38)
19:58118369 (GRCh37)
Canonical SPDI:: NC_000019.10:57607000:G:A
Gene:: ZNF530 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.57607001G>A, NC_000019.9:g.58118369G>A, NM_020880.5:c.1476G>A, NM_020880.4:c.1476G>A, NM_020880.3:c.1476G>A, NM_001321981.2:c.1377G>A, NM_001321981.1:c.1377G>A, NR_135923.2:n.1696G>A, NR_135923.1:n.1696G>A, NM_001387561.1:c.1377G>A, NM_001387562.1:c.1473G>A

Select item 14892245798.

rs1489224579 has merged into rs1391909279 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAAAAAAAAA [Show Flanks]
Chromosome:: 19:57609636 (GRCh38)
19:58121004 (GRCh37)
Canonical SPDI:: NC_000019.10:57609635:AAAAAAAAA:AAAAAAAA,NC_000019.10:57609635:AAAAAAAAA:AAAAAAAAAA,NC_000019.10:57609635:AAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ZNF530 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAA=0.00022/1 (Estonian)
HGVS:: NC_000019.10:g.57609644del, NC_000019.10:g.57609644dup, NC_000019.10:g.57609636_57609644dup, NC_000019.9:g.58121012del, NC_000019.9:g.58121012dup, NC_000019.9:g.58121004_58121012dup, NM_020880.5:c.*2319del, NM_020880.5:c.*2319dup, NM_020880.5:c.*2311_*2319dup, NM_020880.4:c.*2319del, NM_020880.4:c.*2319dup, NM_020880.4:c.*2311_*2319dup, NM_001321981.2:c.*2319del, NM_001321981.2:c.*2319dup, NM_001321981.2:c.*2311_*2319dup, NM_001321981.1:c.*2319del, NM_001321981.1:c.*2319dup, NM_001321981.1:c.*2311_*2319dup, NM_001387561.1:c.*2319del, NM_001387561.1:c.*2319dup, NM_001387561.1:c.*2311_*2319dup, NM_001387562.1:c.*2319del, NM_001387562.1:c.*2319dup, NM_001387562.1:c.*2311_*2319dup

Select item 14892032739.

rs1489203273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57599349 (GRCh38)
19:58110717 (GRCh37)
Canonical SPDI:: NC_000019.10:57599348:A:G
Gene:: ZNF530 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57599349A>G, NC_000019.9:g.58110717A>G

Select item 148893303810.

rs1488933038 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:57611276 (GRCh38)
19:58122644 (GRCh37)
Canonical SPDI:: NC_000019.10:57611275:AT:
Gene:: ZNF530 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.57611276_57611277del, NC_000019.9:g.58122644_58122645del

Select item 148890185811.

rs1488901858 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:57612480 (GRCh38)
19:58123848 (GRCh37)
Canonical SPDI:: NC_000019.10:57612478:TGT:T
Gene:: ZNF134 (Varview), ZNF530 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.57612480_57612481del, NC_000019.9:g.58123848_58123849del

Select item 148881878312.

rs1488818783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:57607608 (GRCh38)
19:58118976 (GRCh37)
Canonical SPDI:: NC_000019.10:57607607:G:A
Gene:: ZNF530 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.0002/1 (1000Genomes)
HGVS:: NC_000019.10:g.57607608G>A, NC_000019.9:g.58118976G>A, NM_020880.5:c.*283G>A, NM_020880.4:c.*283G>A, NM_020880.3:c.*283G>A, NM_001321981.2:c.*283G>A, NM_001321981.1:c.*283G>A, NR_135923.2:n.2303G>A, NR_135923.1:n.2303G>A, NM_001387561.1:c.*283G>A, NM_001387562.1:c.*283G>A

Select item 148860026513.

rs1488600265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:57607199 (GRCh38)
19:58118567 (GRCh37)
Canonical SPDI:: NC_000019.10:57607198:C:A
Gene:: ZNF530 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57607199C>A, NC_000019.9:g.58118567C>A, NM_020880.5:c.1674C>A, NM_020880.4:c.1674C>A, NM_020880.3:c.1674C>A, NM_001321981.2:c.1575C>A, NM_001321981.1:c.1575C>A, NR_135923.2:n.1894C>A, NR_135923.1:n.1894C>A, NM_001387561.1:c.1575C>A, NM_001387562.1:c.1671C>A

Select item 148851330114.

rs1488513301 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:57606241 (GRCh38)
19:58117609 (GRCh37)
Canonical SPDI:: NC_000019.10:57606240:A:G
Gene:: ZNF530 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.57606241A>G, NC_000019.9:g.58117609A>G, NM_020880.5:c.716A>G, NM_020880.4:c.716A>G, NM_020880.3:c.716A>G, NM_001321981.2:c.617A>G, NM_001321981.1:c.617A>G, NR_135923.2:n.936A>G, NR_135923.1:n.936A>G, NM_001387561.1:c.617A>G, NM_001387562.1:c.713A>G, NM_001387563.1:c.716A>G, NP_065931.3:p.Tyr239Cys, NP_001308910.1:p.Tyr206Cys, NP_001374490.1:p.Tyr206Cys, NP_001374491.1:p.Tyr238Cys, NP_001374492.1:p.Tyr239Cys

Select item 148837356815.

rs1488373568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:57612662 (GRCh38)
19:58124030 (GRCh37)
Canonical SPDI:: NC_000019.10:57612661:C:A
Gene:: ZNF134 (Varview), ZNF530 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.57612662C>A, NC_000019.9:g.58124030C>A, NR_135923.2:n.2682C>A, NR_135923.1:n.2682C>A, NR_135924.2:n.592C>A, NR_135924.1:n.592C>A, NM_001387563.1:c.*79C>A

Select item 148805521816.

rs1488055218 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTAT>- [Show Flanks]
Chromosome:: 19:57610444 (GRCh38)
19:58121812 (GRCh37)
Canonical SPDI:: NC_000019.10:57610442:TGTGTGTAT:T
Gene:: ZNF530 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.57610444_57610451del, NC_000019.9:g.58121812_58121819del

Select item 148802504417.

rs1488025044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57613083 (GRCh38)
19:58124451 (GRCh37)
Canonical SPDI:: NC_000019.10:57613082:T:C
Gene:: ZNF134 (Varview), ZNF530 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_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.57613083T>C, NC_000019.9:g.58124451T>C

Select item 148765136218.

rs1487651362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:57604796 (GRCh38)
19:58116164 (GRCh37)
Canonical SPDI:: NC_000019.10:57604795:A:T
Gene:: ZNF530 (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.57604796A>T, NC_000019.9:g.58116164A>T

Select item 148688778119.

rs1486887781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57605587 (GRCh38)
19:58116955 (GRCh37)
Canonical SPDI:: NC_000019.10:57605586:T:C
Gene:: ZNF530 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.57605587T>C, NC_000019.9:g.58116955T>C

Select item 148593557220.

rs1485935572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:57605167 (GRCh38)
19:58116535 (GRCh37)
Canonical SPDI:: NC_000019.10:57605166:T:C
Gene:: ZNF530 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.57605167T>C, NC_000019.9:g.58116535T>C

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