SNP Links for Nucleotide (Select 449020157) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:181563748 (GRCh38)
3:181281536 (GRCh37)
Canonical SPDI:: NC_000003.12:181563747:T:C
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_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_000003.12:g.181563748T>C, NC_000003.11:g.181281536T>C, NR_075091.1:n.247T>C, NR_075092.1:n.247T>C, NR_075093.1:n.223T>C

Select item 148416367211.

rs1484163672 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:181741978 (GRCh38)
3:181459766 (GRCh37)
Canonical SPDI:: NC_000003.12:181741977:A:C
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000026/7 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.181741978A>C, NC_000003.11:g.181459766A>C, NR_004053.3:n.3285A>C, NR_075091.1:n.3300A>C, NR_075092.1:n.3192A>C, NR_075089.1:n.3177A>C, NR_075090.1:n.2891A>C, NR_075093.1:n.2882A>C, NR_002810.1:n.2783A>C

Select item 148401852712.

rs1484018527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:181739693 (GRCh38)
3:181457481 (GRCh37)
Canonical SPDI:: NC_000003.12:181739692:G:A
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.181739693G>A, NC_000003.11:g.181457481G>A, NR_004053.3:n.1000G>A, NR_075091.1:n.1015G>A, NR_075092.1:n.907G>A, NR_075089.1:n.892G>A, NR_075090.1:n.606G>A, NR_075093.1:n.597G>A, NR_002810.1:n.507G>A

Select item 148291862713.

rs1482918627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:181740913 (GRCh38)
3:181458701 (GRCh37)
Canonical SPDI:: NC_000003.12:181740912:T:G
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.181740913T>G, NC_000003.11:g.181458701T>G, NR_004053.3:n.2220T>G, NR_075091.1:n.2235T>G, NR_075092.1:n.2127T>G, NR_075089.1:n.2112T>G, NR_075090.1:n.1826T>G, NR_075093.1:n.1817T>G, NR_002810.1:n.1717T>G

Select item 148232637914.

rs1482326379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:181740132 (GRCh38)
3:181457920 (GRCh37)
Canonical SPDI:: NC_000003.12:181740131:C:G
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.181740132C>G, NC_000003.11:g.181457920C>G, NR_004053.3:n.1439C>G, NR_075091.1:n.1454C>G, NR_075092.1:n.1346C>G, NR_075089.1:n.1331C>G, NR_075090.1:n.1045C>G, NR_075093.1:n.1036C>G, NR_002810.1:n.946C>G

Select item 148007313515.

rs1480073135 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 3:181741753 (GRCh38)
3:181459541 (GRCh37)
Canonical SPDI:: NC_000003.12:181741752:T:
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.181741753del, NC_000003.11:g.181459541del, NR_004053.3:n.3060del, NR_075091.1:n.3075del, NR_075092.1:n.2967del, NR_075089.1:n.2952del, NR_075090.1:n.2666del, NR_075093.1:n.2657del, NR_002810.1:n.2558del

Select item 147921204016.

rs1479212040 [Homo sapiens]

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

Select item 147880694417.

rs1478806944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:181563736 (GRCh38)
3:181281524 (GRCh37)
Canonical SPDI:: NC_000003.12:181563735:T:A
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.181563736T>A, NC_000003.11:g.181281524T>A, NR_075091.1:n.235T>A, NR_075092.1:n.235T>A, NR_075093.1:n.211T>A

Select item 147871346818.

rs1478713468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:181742177 (GRCh38)
3:181459965 (GRCh37)
Canonical SPDI:: NC_000003.12:181742176:T:A,NC_000003.12:181742176:T:C
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.181742177T>A, NC_000003.12:g.181742177T>C, NC_000003.11:g.181459965T>A, NC_000003.11:g.181459965T>C, NR_004053.3:n.3484T>A, NR_004053.3:n.3484T>C, NR_075091.1:n.3499T>A, NR_075091.1:n.3499T>C, NR_075092.1:n.3391T>A, NR_075092.1:n.3391T>C, NR_075089.1:n.3376T>A, NR_075089.1:n.3376T>C, NR_075090.1:n.3090T>A, NR_075090.1:n.3090T>C, NR_075093.1:n.3081T>A, NR_075093.1:n.3081T>C, NR_002810.1:n.2982T>A, NR_002810.1:n.2982T>C

Select item 147623746519.

rs1476237465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:181088890 (GRCh38)
3:180806678 (GRCh37)
Canonical SPDI:: NC_000003.12:181088889:G:A
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_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_000003.12:g.181088890G>A, NC_000003.11:g.180806678G>A, NR_075091.1:n.121G>A, NR_075092.1:n.121G>A

Select item 147553389520.

rs1475533895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:181741395 (GRCh38)
3:181459183 (GRCh37)
Canonical SPDI:: NC_000003.12:181741394:T:C
Gene:: SOX2-OT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.181741395T>C, NC_000003.11:g.181459183T>C, NR_004053.3:n.2702T>C, NR_075091.1:n.2717T>C, NR_075092.1:n.2609T>C, NR_075089.1:n.2594T>C, NR_075090.1:n.2308T>C, NR_075093.1:n.2299T>C, NR_002810.1:n.2200T>C

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