SNP Links for Nucleotide (Select 380422401) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9648067 (GRCh38)
12:9800663 (GRCh37)
Canonical SPDI:: NC_000012.12:9648066:C:T
Gene:: LOC374443 (Varview), LOC105369728 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.9648067C>T, NC_000012.11:g.9800663C>T, NR_002814.2:n.21C>T, NR_046444.1:n.21C>T, NR_046445.1:n.21C>T, NR_046446.1:n.21C>T, NR_046447.1:n.21C>T

Select item 146574828313.

rs1465748283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:9657048 (GRCh38)
12:9809644 (GRCh37)
Canonical SPDI:: NC_000012.12:9657047:T:C
Gene:: LOC374443 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9657048T>C, NC_000012.11:g.9809644T>C, NR_002814.2:n.1248T>C, NR_046449.2:n.597T>C, NR_046449.1:n.593T>C, NR_046444.1:n.1331T>C, NR_046445.1:n.773T>C, NR_046446.1:n.725T>C, NR_046448.1:n.643T>C, NR_046447.1:n.643T>C, NR_046450.1:n.511T>C, NR_046451.1:n.432T>C

Select item 146488211114.

rs1464882111 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:9655942 (GRCh38)
12:9808538 (GRCh37)
Canonical SPDI:: NC_000012.12:9655941:A:G
Gene:: LOC374443 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.9655942A>G, NC_000012.11:g.9808538A>G, NR_002814.2:n.1083A>G, NR_046449.2:n.432A>G, NR_046449.1:n.428A>G, NR_046444.1:n.1166A>G, NR_046445.1:n.478A>G, NR_046446.1:n.478A>G, NR_046448.1:n.478A>G, NR_046447.1:n.478A>G, NR_046450.1:n.264A>G, NR_046451.1:n.267A>G

Select item 146472504515.

rs1464725045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:9648223 (GRCh38)
12:9800819 (GRCh37)
Canonical SPDI:: NC_000012.12:9648222:G:T
Gene:: LOC374443 (Varview), LOC105369728 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000012.12:g.9648223G>T, NC_000012.11:g.9800819G>T, NR_002814.2:n.177G>T, NR_046444.1:n.177G>T, NR_046445.1:n.177G>T, NR_046446.1:n.177G>T, NR_046447.1:n.177G>T

Select item 146383726016.

rs1463837260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:9657429 (GRCh38)
12:9810025 (GRCh37)
Canonical SPDI:: NC_000012.12:9657428:G:A
Gene:: LOC374443 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.9657429G>A, NC_000012.11:g.9810025G>A, NR_002814.2:n.1629G>A, NR_046449.2:n.978G>A, NR_046449.1:n.974G>A, NR_046444.1:n.1712G>A, NR_046445.1:n.1154G>A, NR_046446.1:n.1106G>A, NR_046448.1:n.1024G>A, NR_046447.1:n.1024G>A, NR_046450.1:n.892G>A, NR_046451.1:n.813G>A

Select item 146377391217.

rs1463773912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:9657874 (GRCh38)
12:9810470 (GRCh37)
Canonical SPDI:: NC_000012.12:9657873:G:A
Gene:: LOC374443 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9657874G>A, NC_000012.11:g.9810470G>A, NR_002814.2:n.2074G>A, NR_046449.2:n.1423G>A, NR_046449.1:n.1419G>A, NR_046444.1:n.2157G>A, NR_046445.1:n.1599G>A, NR_046446.1:n.1551G>A, NR_046448.1:n.1469G>A, NR_046447.1:n.1469G>A, NR_046450.1:n.1337G>A, NR_046451.1:n.1258G>A

Select item 146231730218.

rs1462317302 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 12:9658012 (GRCh38)
12:9810608 (GRCh37)
Canonical SPDI:: NC_000012.12:9658011:G:
Gene:: LOC374443 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.9658012del, NC_000012.11:g.9810608del, NR_002814.2:n.2212del, NR_046449.2:n.1561del, NR_046449.1:n.1557del, NR_046444.1:n.2295del, NR_046445.1:n.1737del, NR_046446.1:n.1689del, NR_046448.1:n.1607del, NR_046447.1:n.1607del, NR_046450.1:n.1475del, NR_046451.1:n.1396del

Select item 146146730719.

rs1461467307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:9657175 (GRCh38)
12:9809771 (GRCh37)
Canonical SPDI:: NC_000012.12:9657174:C:G,NC_000012.12:9657174:C:T
Gene:: LOC374443 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.9657175C>G, NC_000012.12:g.9657175C>T, NC_000012.11:g.9809771C>G, NC_000012.11:g.9809771C>T, NR_002814.2:n.1375C>G, NR_002814.2:n.1375C>T, NR_046449.2:n.724C>G, NR_046449.2:n.724C>T, NR_046449.1:n.720C>G, NR_046449.1:n.720C>T, NR_046444.1:n.1458C>G, NR_046444.1:n.1458C>T, NR_046445.1:n.900C>G, NR_046445.1:n.900C>T, NR_046446.1:n.852C>G, NR_046446.1:n.852C>T, NR_046448.1:n.770C>G, NR_046448.1:n.770C>T, NR_046447.1:n.770C>G, NR_046447.1:n.770C>T, NR_046450.1:n.638C>G, NR_046450.1:n.638C>T, NR_046451.1:n.559C>G, NR_046451.1:n.559C>T

Select item 146140629020.

rs1461406290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:9658340 (GRCh38)
12:9810936 (GRCh37)
Canonical SPDI:: NC_000012.12:9658339:C:T
Gene:: LOC374443 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.9658340C>T, NC_000012.11:g.9810936C>T, NR_002814.2:n.2540C>T, NR_046449.2:n.1889C>T, NR_046449.1:n.1885C>T, NR_046444.1:n.2623C>T, NR_046445.1:n.2065C>T, NR_046446.1:n.2017C>T, NR_046448.1:n.1935C>T, NR_046447.1:n.1935C>T, NR_046450.1:n.1803C>T, NR_046451.1:n.1724C>T

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