SNP Links for Gene (Select 100101467) - SNP

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Select item 14915826511.

rs1491582651 has merged into rs34002141 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAGAAAAGAGAGAGACAGAGAAGGCAACCAACATTTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:35280287 (GRCh38)
18:32860251 (GRCh37)
Canonical SPDI:: NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:35280275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAGAAAAGAGAGAGACAGAGAAGGCAACCAACATTTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZSCAN30 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.0153/59 (ALSPAC)
A=0.0154/57 (TWINSUK)
A=0.325/13 (GENOME_DK)
A=0.358/1793 (1000Genomes)
HGVS:: NC_000018.10:g.35280287_35280291del, NC_000018.10:g.35280288_35280291del, NC_000018.10:g.35280289_35280291del, NC_000018.10:g.35280290_35280291del, NC_000018.10:g.35280291del, NC_000018.10:g.35280291dup, NC_000018.10:g.35280290_35280291dup, NC_000018.10:g.35280289_35280291dup, NC_000018.10:g.35280288_35280291dup, NC_000018.10:g.35280285_35280291dup, NC_000018.10:g.35280276_35280291A[17]GAAAAGAGAGAGACAGAGAAGGCAACCAACATTTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.32860251_32860255del, NC_000018.9:g.32860252_32860255del, NC_000018.9:g.32860253_32860255del, NC_000018.9:g.32860254_32860255del, NC_000018.9:g.32860255del, NC_000018.9:g.32860255dup, NC_000018.9:g.32860254_32860255dup, NC_000018.9:g.32860253_32860255dup, NC_000018.9:g.32860252_32860255dup, NC_000018.9:g.32860249_32860255dup, NC_000018.9:g.32860240_32860255A[17]GAAAAGAGAGAGACAGAGAAGGCAACCAACATTTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14914865232.

rs1491486523 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 18:35266685 (GRCh38)
18:32846649 (GRCh37)
Canonical SPDI:: NC_000018.10:35266684:TG:
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004215/50 (ALFA)
-=0.00026/29 (GnomAD)
-=0.00121/34 (TOMMO)
HGVS:: NC_000018.10:g.35266685_35266686del, NC_000018.9:g.32846649_32846650del

Select item 14913945083.

rs1491394508 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:35277495 (GRCh38)
18:32857460 (GRCh37)
Canonical SPDI:: NC_000018.10:35277495:A:AA
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000018.10:g.35277496dup, NC_000018.9:g.32857460dup

Select item 14912987754.

rs1491298775 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:35277496 (GRCh38)
18:32857460 (GRCh37)
Canonical SPDI:: NC_000018.10:35277494:TAT:T
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.35277496_35277497del, NC_000018.9:g.32857460_32857461del

Select item 14911639995.

rs1491163999 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTA [Show Flanks]
Chromosome:: 18:35266685 (GRCh38)
18:32846650 (GRCh37)
Canonical SPDI:: NC_000018.10:35266685::TTTA
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: TTTA=0.00012/2 (TOMMO)
HGVS:: NC_000018.10:g.35266685_35266686insTTTA, NC_000018.9:g.32846649_32846650insTTTA

Select item 14911426336.

rs1491142633 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:35254229 (GRCh38)
18:32834193 (GRCh37)
Canonical SPDI:: NC_000018.10:35254228:TA:
Gene:: ZNF397 (Varview), ZSCAN30 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,splice_acceptor_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.35254229_35254230del, NC_000018.9:g.32834193_32834194del, NG_015815.1:g.18200_18201del, XM_005258183.5:c.705_706del, XM_005258183.4:c.705_706del, XM_005258183.3:c.705_706del, XM_005258183.2:c.705_706del, XM_005258183.1:c.705_706del, NM_001112734.4:c.705_706del, NM_001112734.3:c.705_706del, NM_001112734.2:c.705_706del, XM_011525789.4:c.144_145del, XM_011525789.3:c.144_145del, XM_011525789.2:c.144_145del, XM_011525789.1:c.144_145del, NM_001166012.3:c.705_706del, NM_001166012.2:c.705_706del, NM_001166012.1:c.705_706del, NM_001288711.2:c.144_145del, NM_001288711.1:c.144_145del, XM_047437266.1:c.1026_1027del, XM_047437267.1:c.705_706del, XP_005258240.1:p.Lys236fs, NP_001106205.1:p.Lys236fs, XP_011524091.1:p.Lys49fs, NP_001159484.1:p.Lys236fs, NP_001275640.1:p.Lys49fs, XP_047293222.1:p.Lys343fs, XP_047293223.1:p.Lys236fs

Select item 14911311677.

rs1491131167 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:35266657 (GRCh38)
18:32846621 (GRCh37)
Canonical SPDI:: NC_000018.10:35266656:AT:
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000029/3 (GnomAD)
HGVS:: NC_000018.10:g.35266657_35266658del, NC_000018.9:g.32846621_32846622del

Select item 14910804938.

rs1491080493 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 18:35267491 (GRCh38)
18:32847455 (GRCh37)
Canonical SPDI:: NC_000018.10:35267489:GCG:G
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.001/9 (GnomAD)
HGVS:: NC_000018.10:g.35267491_35267492del, NC_000018.9:g.32847455_32847456del, NM_001166012.3:c.-119_-118del, NM_001166012.2:c.-119_-118del, NM_001166012.1:c.-119_-118del

Select item 14910116549.

rs1491011654 has merged into rs61171547 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:35287884 (GRCh38)
18:32867848 (GRCh37)
Canonical SPDI:: NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:35287875:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZSCAN30 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.239217/1198 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000018.10:g.35287884_35287890del, NC_000018.10:g.35287887_35287890del, NC_000018.10:g.35287888_35287890del, NC_000018.10:g.35287889_35287890del, NC_000018.10:g.35287890del, NC_000018.10:g.35287890dup, NC_000018.10:g.35287889_35287890dup, NC_000018.10:g.35287888_35287890dup, NC_000018.10:g.35287887_35287890dup, NC_000018.10:g.35287881_35287890dup, NC_000018.9:g.32867848_32867854del, NC_000018.9:g.32867851_32867854del, NC_000018.9:g.32867852_32867854del, NC_000018.9:g.32867853_32867854del, NC_000018.9:g.32867854del, NC_000018.9:g.32867854dup, NC_000018.9:g.32867853_32867854dup, NC_000018.9:g.32867852_32867854dup, NC_000018.9:g.32867851_32867854dup, NC_000018.9:g.32867845_32867854dup

Select item 149091587710.

rs1490915877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:35279811 (GRCh38)
18:32859775 (GRCh37)
Canonical SPDI:: NC_000018.10:35279810:G:A
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000018.10:g.35279811G>A, NC_000018.9:g.32859775G>A

Select item 149085711311.

rs1490857113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:35265103 (GRCh38)
18:32845067 (GRCh37)
Canonical SPDI:: NC_000018.10:35265102:G:A
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000018.10:g.35265103G>A, NC_000018.9:g.32845067G>A

Select item 149073031612.

rs1490730316 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:35256775 (GRCh38)
18:32836740 (GRCh37)
Canonical SPDI:: NC_000018.10:35256775:TT:TTT
Gene:: ZNF397 (Varview), ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.35256777dup, NC_000018.9:g.32836741dup, NG_015815.1:g.20748dup

Select item 149071855313.

rs1490718553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:35268333 (GRCh38)
18:32848297 (GRCh37)
Canonical SPDI:: NC_000018.10:35268332:T:C
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_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_000018.10:g.35268333T>C, NC_000018.9:g.32848297T>C

Select item 149061482114.

rs1490614821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 18:35271509 (GRCh38)
18:32851473 (GRCh37)
Canonical SPDI:: NC_000018.10:35271508:T:A,NC_000018.10:35271508:T:C
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000018.10:g.35271509T>A, NC_000018.10:g.35271509T>C, NC_000018.9:g.32851473T>A, NC_000018.9:g.32851473T>C

Select item 149050098215.

rs1490500982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:35252316 (GRCh38)
18:32832280 (GRCh37)
Canonical SPDI:: NC_000018.10:35252315:G:A
Gene:: ZNF397 (Varview), ZSCAN30 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.35252316G>A, NC_000018.9:g.32832280G>A, NG_015815.1:g.16287G>A, XM_005258183.5:c.*1134C>T, XM_005258183.4:c.*1134C>T, XM_005258183.3:c.*1134C>T, XM_005258183.2:c.*1134C>T, XM_005258183.1:c.*1134C>T, NM_001112734.4:c.*1134C>T, NM_001112734.3:c.*1134C>T, NM_001112734.2:c.*1134C>T, XM_011525789.4:c.*1134C>T, XM_011525789.3:c.*1134C>T, XM_011525789.2:c.*1134C>T, XM_011525789.1:c.*1134C>T, NM_001166012.3:c.*1134C>T, NM_001166012.2:c.*1134C>T, NM_001166012.1:c.*1134C>T, NM_001288711.2:c.*1134C>T, NM_001288711.1:c.*1134C>T, XM_047437266.1:c.*1134C>T, XM_047437267.1:c.*1134C>T

Select item 149047354816.

rs1490473548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:35264066 (GRCh38)
18:32844030 (GRCh37)
Canonical SPDI:: NC_000018.10:35264065:A:T
Gene:: ZSCAN30 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_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_000018.10:g.35264066A>T, NC_000018.9:g.32844030A>T, XM_005258183.5:c.287T>A, XM_005258183.4:c.287T>A, XM_005258183.3:c.287T>A, XM_005258183.2:c.287T>A, XM_005258183.1:c.287T>A, NM_001112734.4:c.287T>A, NM_001112734.3:c.287T>A, NM_001112734.2:c.287T>A, NM_001166012.3:c.287T>A, NM_001166012.2:c.287T>A, NM_001166012.1:c.287T>A, XM_047437268.1:c.608T>A, XM_047437266.1:c.608T>A, XM_047437267.1:c.287T>A, XP_005258240.1:p.Phe96Tyr, NP_001106205.1:p.Phe96Tyr, NP_001159484.1:p.Phe96Tyr, XP_047293224.1:p.Phe203Tyr, XP_047293222.1:p.Phe203Tyr, XP_047293223.1:p.Phe96Tyr

Select item 149030972917.

rs1490309729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:35263400 (GRCh38)
18:32843364 (GRCh37)
Canonical SPDI:: NC_000018.10:35263399:T:C
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.35263400T>C, NC_000018.9:g.32843364T>C

Select item 148981661418.

rs1489816614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:35285831 (GRCh38)
18:32865795 (GRCh37)
Canonical SPDI:: NC_000018.10:35285830:A:G
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.35285831A>G, NC_000018.9:g.32865795A>G

Select item 148972987319.

rs1489729873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 18:35269687 (GRCh38)
18:32849651 (GRCh37)
Canonical SPDI:: NC_000018.10:35269686:A:C,NC_000018.10:35269686:A:T
Gene:: ZSCAN30 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.35269687A>C, NC_000018.10:g.35269687A>T, NC_000018.9:g.32849651A>C, NC_000018.9:g.32849651A>T

Select item 148969278120.

rs1489692781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:35253308 (GRCh38)
18:32833272 (GRCh37)
Canonical SPDI:: NC_000018.10:35253307:T:G
Gene:: ZNF397 (Varview), ZSCAN30 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.35253308T>G, NC_000018.9:g.32833272T>G, NG_015815.1:g.17279T>G, XM_005258183.5:c.*142A>C, XM_005258183.4:c.*142A>C, XM_005258183.3:c.*142A>C, XM_005258183.2:c.*142A>C, XM_005258183.1:c.*142A>C, NM_001112734.4:c.*142A>C, NM_001112734.3:c.*142A>C, NM_001112734.2:c.*142A>C, XM_011525789.4:c.*142A>C, XM_011525789.3:c.*142A>C, XM_011525789.2:c.*142A>C, XM_011525789.1:c.*142A>C, NM_001166012.3:c.*142A>C, NM_001166012.2:c.*142A>C, NM_001166012.1:c.*142A>C, NM_001288711.2:c.*142A>C, NM_001288711.1:c.*142A>C, XM_047437266.1:c.*142A>C, XM_047437267.1:c.*142A>C

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