SNP Links for Nucleotide (Select 589908450) - SNP

Links from Nucleotide

Items: 1 to 20 of 2038

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Select item 14915864771.

rs1491586477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:73300221 (GRCh38)
7:72714219 (GRCh37)
Canonical SPDI:: NC_000007.14:73300221:A:AA
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.73300222dup, NW_003871064.1:g.829458dup, NG_013116.3:g.6828dup, NC_000007.13:g.72714219dup

Select item 14910993852.

rs1491099385 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:73300221 (GRCh38)
7:72714218 (GRCh37)
Canonical SPDI:: NC_000007.14:73300220:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.73300221_73300222del, NW_003871064.1:g.829457_829458del, NG_013116.3:g.6827_6828del, NC_000007.13:g.72714218_72714219del

Select item 14909606313.

rs1490960631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:73293911 (GRCh38)
7:72707911 (GRCh37)
Canonical SPDI:: NC_000007.14:73293910:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73293911C>G, NW_003871064.1:g.823147C>G, NG_013116.3:g.517C>G, NC_000007.13:g.72707911C>G

Select item 14909347754.

rs1490934775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73294848 (GRCh38)
7:72708848 (GRCh37)
Canonical SPDI:: NC_000007.14:73294847:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000058/8 (GnomAD)
HGVS:: NC_000007.14:g.73294848C>T, NW_003871064.1:g.824084C>T, NG_013116.3:g.1454C>T, NC_000007.13:g.72708848C>T

Select item 14909040515.

rs1490904051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:73294012 (GRCh38)
7:72708012 (GRCh37)
Canonical SPDI:: NC_000007.14:73294011:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73294012T>C, NW_003871064.1:g.823248T>C, NG_013116.3:g.618T>C, NC_000007.13:g.72708012T>C

Select item 14905690606.

rs1490569060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73300735 (GRCh38)
7:72714732 (GRCh37)
Canonical SPDI:: NC_000007.14:73300734:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000068/18 (TOPMED)
HGVS:: NC_000007.14:g.73300735G>A, NW_003871064.1:g.829971G>A, NG_013116.3:g.7341G>A, NC_000007.13:g.72714732G>A

Select item 14905379037.

rs1490537903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73301396 (GRCh38)
7:72715393 (GRCh37)
Canonical SPDI:: NC_000007.14:73301395:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000035/1 (TOMMO)
C=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.73301396G>C, NW_003871064.1:g.830632G>C, NG_013116.3:g.8002G>C, NC_000007.13:g.72715393G>C

Select item 14904702478.

rs1490470247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:73294308 (GRCh38)
7:72708308 (GRCh37)
Canonical SPDI:: NC_000007.14:73294307:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73294308A>G, NW_003871064.1:g.823544A>G, NG_013116.3:g.914A>G, NC_000007.13:g.72708308A>G

Select item 14904454099.

rs1490445409 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:73295343 (GRCh38)
7:72709343 (GRCh37)
Canonical SPDI:: NC_000007.14:73295342:T:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.73295343del, NW_003871064.1:g.824579del, NG_013116.3:g.1949del, NC_000007.13:g.72709343del

Select item 149007891910.

rs1490078919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73301097 (GRCh38)
7:72715094 (GRCh37)
Canonical SPDI:: NC_000007.14:73301096:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000064/17 (TOPMED)
T=0.000086/12 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000007.14:g.73301097C>T, NW_003871064.1:g.830333C>T, NG_013116.3:g.7703C>T, NC_000007.13:g.72715094C>T

Select item 149004852211.

rs1490048522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:73301690 (GRCh38)
7:72715687 (GRCh37)
Canonical SPDI:: NC_000007.14:73301689:C:G,NC_000007.14:73301689:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.73301690C>G, NC_000007.14:g.73301690C>T, NW_003871064.1:g.830926C>G, NW_003871064.1:g.830926C>T, NG_013116.3:g.8296C>G, NG_013116.3:g.8296C>T, NC_000007.13:g.72715687C>G, NC_000007.13:g.72715687C>T

Select item 149000922812.

rs1490009228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:73295794 (GRCh38)
7:72709794 (GRCh37)
Canonical SPDI:: NC_000007.14:73295793:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.73295794C>T, NW_003871064.1:g.825030C>T, NG_013116.3:g.2400C>T, NC_000007.13:g.72709794C>T

Select item 148998141013.

rs1489981410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:73294727 (GRCh38)
7:72708727 (GRCh37)
Canonical SPDI:: NC_000007.14:73294726:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000273/37 (GnomAD)
A=0.000348/92 (TOPMED)
HGVS:: NC_000007.14:g.73294727G>A, NW_003871064.1:g.823963G>A, NG_013116.3:g.1333G>A, NC_000007.13:g.72708727G>A

Select item 148936032914.

rs1489360329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:73299889 (GRCh38)
7:72713886 (GRCh37)
Canonical SPDI:: NC_000007.14:73299888:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73299889G>C, NW_003871064.1:g.829125G>C, NG_013116.3:g.6495G>C, NC_000007.13:g.72713886G>C

Select item 148931343315.

rs1489313433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:73302128 (GRCh38)
7:72716125 (GRCh37)
Canonical SPDI:: NC_000007.14:73302127:T:G
Gene:: NSUN5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.73302128T>G, NW_003871064.1:g.831364T>G, NG_013116.3:g.8734T>G, NC_000007.13:g.72716125T>G

Select item 148930888216.

rs1489308882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:73298965 (GRCh38)
7:72712965 (GRCh37)
Canonical SPDI:: NC_000007.14:73298964:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00031/2 (1000Genomes)
HGVS:: NC_000007.14:g.73298965C>G, NW_003871064.1:g.828201C>G, NG_013116.3:g.5571C>G, NC_000007.13:g.72712965C>G

Select item 148926495817.

rs1489264958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:73296680 (GRCh38)
7:72710680 (GRCh37)
Canonical SPDI:: NC_000007.14:73296679:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00049/8 (ALFA)
G=0.00032/5 (TOMMO)
G=0.00094/6 (1000Genomes)
G=0.00379/11 (KOREAN)
A=0.33333/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.73296680A>G, NW_003871064.1:g.825916A>G, NG_013116.3:g.3286A>G, NC_000007.13:g.72710680A>G

Select item 148924076018.

rs1489240760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:73296131 (GRCh38)
7:72710131 (GRCh37)
Canonical SPDI:: NC_000007.14:73296130:C:A,NC_000007.14:73296130:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.73296131C>A, NC_000007.14:g.73296131C>T, NW_003871064.1:g.825367C>A, NW_003871064.1:g.825367C>T, NG_013116.3:g.2737C>A, NG_013116.3:g.2737C>T, NC_000007.13:g.72710131C>A, NC_000007.13:g.72710131C>T

Select item 148918910519.

rs1489189105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:73295259 (GRCh38)
7:72709259 (GRCh37)
Canonical SPDI:: NC_000007.14:73295258:C:A
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000007.14:g.73295259C>A, NW_003871064.1:g.824495C>A, NG_013116.3:g.1865C>A, NC_000007.13:g.72709259C>A

Select item 148911756620.

rs1489117566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:73303237 (GRCh38)
7:72717234 (GRCh37)
Canonical SPDI:: NC_000007.14:73303236:G:A,NC_000007.14:73303236:G:C
Gene:: NSUN5 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.73303237G>A, NC_000007.14:g.73303237G>C, NW_003871064.1:g.832473G>A, NW_003871064.1:g.832473G>C, NG_013116.3:g.9843G>A, NG_013116.3:g.9843G>C, NC_000007.13:g.72717234G>A, NC_000007.13:g.72717234G>C, NM_018044.5:c.*359C>T, NM_018044.5:c.*359C>G, NM_018044.4:c.*359C>T, NM_018044.4:c.*359C>G, NM_148956.4:c.*178C>T, NM_148956.4:c.*178C>G, NM_148956.3:c.*178C>T, NM_148956.3:c.*178C>G, NM_001168347.3:c.*161C>T, NM_001168347.3:c.*161C>G, NM_001168347.2:c.*161C>T, NM_001168347.2:c.*161C>G, NM_001168348.3:c.*359C>T, NM_001168348.3:c.*359C>G, NM_001168348.2:c.*359C>T, NM_001168348.2:c.*359C>G

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