SNP Links for Gene (Select 100287102) - SNP

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Select item 14913541331.

rs1491354133 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCCG>-,CGCCGCGCCG [Show Flanks]
Chromosome:: 1:10638 (GRCh38)
1:10638 (GRCh37)
Canonical SPDI:: NC_000001.11:10630:CGCGCCGCGCCG:CGCGCCG,NC_000001.11:10630:CGCGCCGCGCCG:CGCGCCGCGCCGCGCCG
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CGCGCCGCGCCGCGCCG=0./0 (ALFA)
HGVS:: NC_000001.11:g.10633CGCCG[1], NC_000001.11:g.10633CGCCG[3], NC_000001.10:g.10633CGCCG[1], NC_000001.10:g.10633CGCCG[3]

Select item 14912417412.

rs1491241741 has merged into rs1215112722 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 1:10634 (GRCh38)
1:10634 (GRCh37)
Canonical SPDI:: NC_000001.11:10629:GCGCGC:GCGC,NC_000001.11:10629:GCGCGC:GCGCGCGC
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGC=0./0 (ALFA)
HGVS:: NC_000001.11:g.10630GC[2], NC_000001.11:g.10630GC[4], NC_000001.10:g.10630GC[2], NC_000001.10:g.10630GC[4]

Select item 14909533543.

rs1490953354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:13052 (GRCh38)
1:13052 (GRCh37)
Canonical SPDI:: NC_000001.11:13051:G:C
Gene:: DDX11L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000035/4 (GnomAD)
HGVS:: NC_000001.11:g.13052G>C, NC_000001.10:g.13052G>C

Select item 14909378324.

rs1490937832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:10461 (GRCh38)
1:10461 (GRCh37)
Canonical SPDI:: NC_000001.11:10460:C:A,NC_000001.11:10460:C:G,NC_000001.11:10460:C:T
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00011/2 (TOMMO)
G=0.00141/9 (1000Genomes)
HGVS:: NC_000001.11:g.10461C>A, NC_000001.11:g.10461C>G, NC_000001.11:g.10461C>T, NC_000001.10:g.10461C>A, NC_000001.10:g.10461C>G, NC_000001.10:g.10461C>T

Select item 14905778295.

rs1490577829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:10636 (GRCh38)
1:10636 (GRCh37)
Canonical SPDI:: NC_000001.11:10635:C:G
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0./0 (SGDP_PRJ)
HGVS:: NC_000001.11:g.10636C>G, NC_000001.10:g.10636C>G

Select item 14905269356.

rs1490526935 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:10237 (GRCh38)
1:10237 (GRCh37)
Canonical SPDI:: NC_000001.11:10236:A:C,NC_000001.11:10236:A:G,NC_000001.11:10236:A:T
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00028/1 (GnomAD)
C=0.03292/96 (KOREAN)
HGVS:: NC_000001.11:g.10237A>C, NC_000001.11:g.10237A>G, NC_000001.11:g.10237A>T, NC_000001.10:g.10237A>C, NC_000001.10:g.10237A>G, NC_000001.10:g.10237A>T

Select item 14897315567.

rs1489731556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:10817 (GRCh38)
1:10817 (GRCh37)
Canonical SPDI:: NC_000001.11:10816:G:A,NC_000001.11:10816:G:C
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00043/5 (ALFA)
C=0.0017/43 (TOMMO)
HGVS:: NC_000001.11:g.10817G>A, NC_000001.11:g.10817G>C, NC_000001.10:g.10817G>A, NC_000001.10:g.10817G>C

Select item 14892518798.

rs1489251879 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC [Show Flanks]
Chromosome:: 1:10067 (GRCh38)
1:10068 (GRCh37)
Canonical SPDI:: NC_000001.11:10067:AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC:AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=0.000018/2 (GnomAD)
AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC=0.000108/2 (TOMMO)
HGVS:: NC_000001.11:g.10068AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC[3], NC_000001.10:g.10068AACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCC[3]

Select item 14891852459.

rs1489185245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:14414 (GRCh38)
1:14414 (GRCh37)
Canonical SPDI:: NC_000001.11:14413:G:A,NC_000001.11:14413:G:C
Gene:: WASH7P (Varview), DDX11L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.14414G>A, NC_000001.11:g.14414G>C, NC_000001.10:g.14414G>A, NC_000001.10:g.14414G>C, NR_024540.1:n.1717C>T, NR_024540.1:n.1717C>G

Select item 148911272110.

rs1489112721 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:13196 (GRCh38)
1:13196 (GRCh37)
Canonical SPDI:: NC_000001.11:13195:A:G,NC_000001.11:13195:A:T
Gene:: DDX11L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.13196A>G, NC_000001.11:g.13196A>T, NC_000001.10:g.13196A>G, NC_000001.10:g.13196A>T

Select item 148888904811.

rs1488889048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:14909 (GRCh38)
1:14909 (GRCh37)
Canonical SPDI:: NC_000001.11:14908:A:G
Gene:: WASH7P (Varview), DDX11L1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000001.11:g.14909A>G, NC_000001.10:g.14909A>G

Select item 148885886212.

rs1488858862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13820 (GRCh38)
1:13820 (GRCh37)
Canonical SPDI:: NC_000001.11:13819:A:G
Gene:: DDX11L1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.13820A>G, NC_000001.10:g.13820A>G, NR_046018.2:n.1063A>G

Select item 148823181713.

rs1488231817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:14865 (GRCh38)
1:14865 (GRCh37)
Canonical SPDI:: NC_000001.11:14864:G:A
Gene:: WASH7P (Varview), DDX11L1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.14865G>A, NC_000001.10:g.14865G>A

Select item 148820718114.

rs1488207181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:14284 (GRCh38)
1:14284 (GRCh37)
Canonical SPDI:: NC_000001.11:14283:G:A
Gene:: WASH7P (Varview), DDX11L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.14284G>A, NC_000001.10:g.14284G>A, NR_046018.2:n.1527G>A

Select item 148820405415.

rs1488204054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:14812 (GRCh38)
1:14812 (GRCh37)
Canonical SPDI:: NC_000001.11:14811:G:A,NC_000001.11:14811:G:C
Gene:: WASH7P (Varview), DDX11L1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.00046/8 (TOMMO)
HGVS:: NC_000001.11:g.14812G>A, NC_000001.11:g.14812G>C, NC_000001.10:g.14812G>A, NC_000001.10:g.14812G>C, NR_024540.1:n.1319C>T, NR_024540.1:n.1319C>G

Select item 148740877616.

rs1487408776 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:12996 (GRCh38)
1:12996 (GRCh37)
Canonical SPDI:: NC_000001.11:12995:C:A,NC_000001.11:12995:C:G
Gene:: DDX11L1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.12996C>A, NC_000001.11:g.12996C>G, NC_000001.10:g.12996C>A, NC_000001.10:g.12996C>G

Select item 148737856617.

rs1487378566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:10857 (GRCh38)
1:10857 (GRCh37)
Canonical SPDI:: NC_000001.11:10856:C:G
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.10857C>G, NC_000001.10:g.10857C>G

Select item 148725244918.

rs1487252449 [Homo sapiens]

Variant type:: DEL
Alleles:: TAACCCTAACCCTAACCCTAACCT>- [Show Flanks]
Chromosome:: 1:10157 (GRCh38)
1:10157 (GRCh37)
Canonical SPDI:: NC_000001.11:10156:TAACCCTAACCCTAACCCTAACCT:
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.00056/9 (TOMMO)
-=0.00099/23 (GnomAD)
HGVS:: NC_000001.11:g.10157_10180del, NC_000001.10:g.10157_10180del

Select item 148689193819.

rs1486891938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13370 (GRCh38)
1:13370 (GRCh37)
Canonical SPDI:: NC_000001.11:13369:T:C
Gene:: DDX11L1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD_exomes)
C=0.000061/7 (GnomAD)
HGVS:: NC_000001.11:g.13370T>C, NC_000001.10:g.13370T>C, NR_046018.2:n.613T>C

Select item 148670420920.

rs1486704209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:10534 (GRCh38)
1:10534 (GRCh37)
Canonical SPDI:: NC_000001.11:10533:A:G
Gene:: DDX11L1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.10534A>G, NC_000001.10:g.10534A>G

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