SNP Links for Nucleotide (Select 225637526) - SNP

Links from Nucleotide

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Select item 14913478281.

rs1491347828 has merged into rs782666820 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:7067792 (GRCh38)
12:7175096 (GRCh37)
Canonical SPDI:: NC_000012.12:7067791:AA:
Gene:: C1S (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000012/3 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000017/2 (ExAC)
HGVS:: NC_000012.12:g.7067792_7067793del, NW_003871083.2:g.269375_269376del, NG_011694.1:g.12117_12118del, NC_000012.11:g.7175096_7175097del

Select item 14912698152.

rs1491269815 has merged into rs150772912 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 12:7067805 (GRCh38)
12:7175109 (GRCh37)
Canonical SPDI:: NC_000012.12:7067792:AGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000012.12:7067792:AGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG
Gene:: C1S (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAG=0.029165/801 (ALFA)
-=0.000024/5 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
-=0.001424/377 (TOPMED)
-=0.002004/2 (GoNL)
-=0.01/6 (NorthernSweden)
-=0.010982/55 (1000Genomes)
-=0.036833/461 (GoESP)
HGVS:: NC_000012.12:g.7067793AG[6], NC_000012.12:g.7067793AG[8], NW_003871083.2:g.269376AG[6], NW_003871083.2:g.269376AG[8], NG_011694.1:g.12118AG[6], NG_011694.1:g.12118AG[8], NC_000012.11:g.7175097AG[6], NC_000012.11:g.7175097AG[8]

Select item 14907282463.

rs1490728246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:7059087 (GRCh38)
12:7166391 (GRCh37)
Canonical SPDI:: NC_000012.12:7059086:G:T
Gene:: C1S (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.7059087G>T, NW_003871083.2:g.260670G>T, NG_011694.1:g.3412G>T, NC_000012.11:g.7166391G>T

Select item 14905814054.

rs1490581405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7057404 (GRCh38)
12:7164708 (GRCh37)
Canonical SPDI:: NC_000012.12:7057403:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.7057404A>G, NW_003871083.2:g.258987A>G, NG_011694.1:g.1729A>G, NC_000012.11:g.7164708A>G

Select item 14903150215.

rs1490315021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:7064958 (GRCh38)
12:7172262 (GRCh37)
Canonical SPDI:: NC_000012.12:7064957:C:G
Gene:: C1S (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000034/9 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000036/5 (GnomAD)
G=0.000684/2 (KOREAN)
HGVS:: NC_000012.12:g.7064958C>G, NW_003871083.2:g.266541C>G, NG_011694.1:g.9283C>G, NC_000012.11:g.7172262C>G

Select item 14900393066.

rs1490039306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7066012 (GRCh38)
12:7173316 (GRCh37)
Canonical SPDI:: NC_000012.12:7066011:G:A
Gene:: C1S (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.7066012G>A, NW_003871083.2:g.267595G>A, NG_011694.1:g.10337G>A, NC_000012.11:g.7173316G>A

Select item 14896021977.

rs1489602197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:7056966 (GRCh38)
12:7164270 (GRCh37)
Canonical SPDI:: NC_000012.12:7056965:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.7056966T>G, NW_003871083.2:g.258549T>G, NG_011694.1:g.1291T>G, NC_000012.11:g.7164270T>G

Select item 14894579788.

rs1489457978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:7072155 (GRCh38)
12:7179459 (GRCh37)
Canonical SPDI:: NC_000012.12:7072154:G:C
HGVS:: NC_000012.12:g.7072155G>C, NC_000012.11:g.7179459G>C, NG_011694.1:g.16480G>C, NW_021160008.1:g.610G>C

Select item 14893930719.

rs1489393071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:7061035 (GRCh38)
12:7168339 (GRCh37)
Canonical SPDI:: NC_000012.12:7061034:T:C
Gene:: C1S (Varview)
Functional Consequence:: intron_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_000012.12:g.7061035T>C, NW_003871083.2:g.262618T>C, NG_011694.1:g.5360T>C, NC_000012.11:g.7168339T>C

Select item 148928821510.

rs1489288215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:7056411 (GRCh38)
12:7163715 (GRCh37)
Canonical SPDI:: NC_000012.12:7056410:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.7056411G>C, NW_003871083.2:g.257994G>C, NG_011694.1:g.736G>C, NC_000012.11:g.7163715G>C

Select item 148920320111.

rs1489203201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:7064542 (GRCh38)
12:7171846 (GRCh37)
Canonical SPDI:: NC_000012.12:7064541:T:A
Gene:: C1S (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.7064542T>A, NW_003871083.2:g.266125T>A, NG_011694.1:g.8867T>A, NC_000012.11:g.7171846T>A

Select item 148904560012.

rs1489045600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:7059639 (GRCh38)
12:7166943 (GRCh37)
Canonical SPDI:: NC_000012.12:7059638:C:T
Gene:: C1S (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.7059639C>T, NW_003871083.2:g.261222C>T, NG_011694.1:g.3964C>T, NC_000012.11:g.7166943C>T

Select item 148811035313.

rs1488110353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:7056300 (GRCh38)
12:7163604 (GRCh37)
Canonical SPDI:: NC_000012.12:7056299:A:C,NC_000012.12:7056299:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.7056300A>C, NC_000012.12:g.7056300A>G, NW_003871083.2:g.257883A>C, NW_003871083.2:g.257883A>G, NG_011694.1:g.625A>C, NG_011694.1:g.625A>G, NC_000012.11:g.7163604A>C, NC_000012.11:g.7163604A>G

Select item 148805060314.

rs1488050603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7068410 (GRCh38)
12:7175714 (GRCh37)
Canonical SPDI:: NC_000012.12:7068409:G:A
Gene:: C1S (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.7068410G>A, NW_003871083.2:g.269993G>A, NG_011694.1:g.12735G>A, NC_000012.11:g.7175714G>A

Select item 148797522415.

rs1487975224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7067333 (GRCh38)
12:7174637 (GRCh37)
Canonical SPDI:: NC_000012.12:7067332:A:G
Gene:: C1S (Varview)
Functional Consequence:: intron_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_000012.12:g.7067333A>G, NW_003871083.2:g.268916A>G, NG_011694.1:g.11658A>G, NC_000012.11:g.7174637A>G

Select item 148786679516.

rs1487866795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:7072248 (GRCh38)
12:7179552 (GRCh37)
Canonical SPDI:: NC_000012.12:7072247:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000012.12:g.7072248A>G, NC_000012.11:g.7179552A>G, NG_011694.1:g.16573A>G, NW_021160008.1:g.703A>G

Select item 148776475917.

rs1487764759 has merged into rs376908299 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AAAA [Show Flanks]
Chromosome:: 12:7071316 (GRCh38)
12:7178620 (GRCh37)
Canonical SPDI:: NC_000012.12:7071313:AAAAA:AA,NC_000012.12:7071313:AAAAA:AAAAAA
Gene:: C1S (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.00084/79 (GnomAD)
HGVS:: NC_000012.12:g.7071316_7071318del, NC_000012.12:g.7071318dup, NW_003871083.2:g.272899_272901del, NW_003871083.2:g.272901dup, NG_011694.1:g.15641_15643del, NG_011694.1:g.15643dup, NC_000012.11:g.7178620_7178622del, NC_000012.11:g.7178622dup

Select item 148765416518.

rs1487654165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:7055875 (GRCh38)
12:7163179 (GRCh37)
Canonical SPDI:: NC_000012.12:7055874:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.7055875G>A, NW_003871083.2:g.257458G>A, NG_011694.1:g.200G>A, NC_000012.11:g.7163179G>A

Select item 148746562619.

rs1487465626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:7071009 (GRCh38)
12:7178313 (GRCh37)
Canonical SPDI:: NC_000012.12:7071008:C:T
Gene:: C1S (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.7071009C>T, NW_003871083.2:g.272592C>T, NG_011694.1:g.15334C>T, NM_001734.5:c.*358C>T, NM_001734.4:c.*358C>T, NM_001734.3:c.*358C>T, NM_201442.4:c.*358C>T, NM_201442.3:c.*358C>T, NM_201442.2:c.*358C>T, NM_001346850.2:c.*358C>T, NM_001346850.1:c.*358C>T, NC_000012.11:g.7178313C>T

Select item 148730096820.

rs1487300968 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:7072119 (GRCh38)
12:7179424 (GRCh37)
Canonical SPDI:: NC_000012.12:7072119:AA:AAA
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.7072121dup, NC_000012.11:g.7179425dup, NG_011694.1:g.16446dup, NW_021160008.1:g.576dup

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