SNP Links for Nucleotide (Select 242246950) - SNP

Links from Nucleotide

Items: 1 to 20 of 588

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Select item 14905888051.

rs1490588805 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:15205824 (GRCh38)
3:15247332 (GRCh37)
Canonical SPDI:: NC_000003.12:15205824::T
Gene:: CAPN7 (Varview), COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.15205824_15205825insT, NC_000003.11:g.15247331_15247332insT, NR_027927.1:n.135_136insA

Select item 14895438642.

rs1489543864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:15177744 (GRCh38)
3:15219251 (GRCh37)
Canonical SPDI:: NC_000003.12:15177743:C:G
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000003.12:g.15177744C>G, NC_000003.11:g.15219251C>G, NR_027927.1:n.693G>C

Select item 14895341503.

rs1489534150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:15178180 (GRCh38)
3:15219687 (GRCh37)
Canonical SPDI:: NC_000003.12:15178179:C:T
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.15178180C>T, NC_000003.11:g.15219687C>T, NR_027927.1:n.257G>A

Select item 14885925284.

rs1488592528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:15177608 (GRCh38)
3:15219115 (GRCh37)
Canonical SPDI:: NC_000003.12:15177607:G:A
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_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_000003.12:g.15177608G>A, NC_000003.11:g.15219115G>A, NR_027927.1:n.829C>T

Select item 14875988535.

rs1487598853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:15177617 (GRCh38)
3:15219124 (GRCh37)
Canonical SPDI:: NC_000003.12:15177616:T:C
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.15177617T>C, NC_000003.11:g.15219124T>C, NR_027927.1:n.820A>G

Select item 14866815286.

rs1486681528 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:15170310 (GRCh38)
3:15211817 (GRCh37)
Canonical SPDI:: NC_000003.12:15170309:G:C
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.15170310G>C, NC_000003.11:g.15211817G>C, NR_027927.1:n.1709C>G

Select item 14862451107.

rs1486245110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:15175331 (GRCh38)
3:15216838 (GRCh37)
Canonical SPDI:: NC_000003.12:15175330:C:T
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.15175331C>T, NC_000003.11:g.15216838C>T, NR_027927.1:n.873G>A

Select item 14851472828.

rs1485147282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:15174776 (GRCh38)
3:15216283 (GRCh37)
Canonical SPDI:: NC_000003.12:15174775:C:A
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.15174776C>A, NC_000003.11:g.15216283C>A, NR_027927.1:n.1428G>T

Select item 14849032419.

rs1484903241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:15165442 (GRCh38)
3:15206949 (GRCh37)
Canonical SPDI:: NC_000003.12:15165441:A:G
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.15165442A>G, NC_000003.11:g.15206949A>G, NR_027927.1:n.2169T>C

Select item 148306983810.

rs1483069838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:15174872 (GRCh38)
3:15216379 (GRCh37)
Canonical SPDI:: NC_000003.12:15174871:A:G
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.15174872A>G, NC_000003.11:g.15216379A>G, NR_027927.1:n.1332T>C

Select item 148196228111.

rs1481962281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:15174932 (GRCh38)
3:15216439 (GRCh37)
Canonical SPDI:: NC_000003.12:15174931:C:T
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.15174932C>T, NC_000003.11:g.15216439C>T, NR_027927.1:n.1272G>A

Select item 148133333112.

rs1481333331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:15178039 (GRCh38)
3:15219546 (GRCh37)
Canonical SPDI:: NC_000003.12:15178038:C:T
Gene:: COL6A4P1 (Varview)
Functional Consequence:: 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_000003.12:g.15178039C>T, NC_000003.11:g.15219546C>T, NR_027927.1:n.398G>A

Select item 148131326913.

rs1481313269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:15177998 (GRCh38)
3:15219505 (GRCh37)
Canonical SPDI:: NC_000003.12:15177997:T:C,NC_000003.12:15177997:T:G
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.15177998T>C, NC_000003.12:g.15177998T>G, NC_000003.11:g.15219505T>C, NC_000003.11:g.15219505T>G, NR_027927.1:n.439A>G, NR_027927.1:n.439A>C

Select item 147950396014.

rs1479503960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:15175146 (GRCh38)
3:15216653 (GRCh37)
Canonical SPDI:: NC_000003.12:15175145:C:A
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.15175146C>A, NC_000003.11:g.15216653C>A, NR_027927.1:n.1058G>T

Select item 147909554615.

rs1479095546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:15178114 (GRCh38)
3:15219621 (GRCh37)
Canonical SPDI:: NC_000003.12:15178113:A:G
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.15178114A>G, NC_000003.11:g.15219621A>G, NR_027927.1:n.323T>C

Select item 147707962616.

rs1477079626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:15177665 (GRCh38)
3:15219172 (GRCh37)
Canonical SPDI:: NC_000003.12:15177664:C:G
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.15177665C>G, NC_000003.11:g.15219172C>G, NR_027927.1:n.772G>C

Select item 147585170917.

rs1475851709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:15175277 (GRCh38)
3:15216784 (GRCh37)
Canonical SPDI:: NC_000003.12:15175276:G:A
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000022/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.15175277G>A, NC_000003.11:g.15216784G>A, NR_027927.1:n.927C>T

Select item 147484917318.

rs1474849173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:15177774 (GRCh38)
3:15219281 (GRCh37)
Canonical SPDI:: NC_000003.12:15177773:G:A
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000037/5 (GnomAD_exomes)
A=0.000955/16 (TOMMO)
A=0.001365/4 (KOREAN)
A=0.002729/5 (Korea1K)
HGVS:: NC_000003.12:g.15177774G>A, NC_000003.11:g.15219281G>A, NR_027927.1:n.663C>T

Select item 147386610919.

rs1473866109 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAGGAACAAAGGAGGT>- [Show Flanks]
Chromosome:: 3:15177681 (GRCh38)
3:15219188 (GRCh37)
Canonical SPDI:: NC_000003.12:15177678:GTTAGGAACAAAGGAGGT:GT
Gene:: COL6A4P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.15177681_15177696del, NC_000003.11:g.15219188_15219203del, NR_027927.1:n.743_758del

Select item 147232507820.

rs1472325078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:15169952 (GRCh38)
3:15211459 (GRCh37)
Canonical SPDI:: NC_000003.12:15169951:T:C
Gene:: COL6A4P1 (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=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.15169952T>C, NC_000003.11:g.15211459T>C, NR_027927.1:n.2067A>G

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