SNP Links for Nucleotide (Select 530229885) - SNP

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Select item 14907595351.

rs1490759535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:247575658 (GRCh38)
1:247738960 (GRCh37)
Canonical SPDI:: NC_000001.11:247575657:C:A
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000001.11:g.247575658C>A, NC_000001.10:g.247738960C>A, NM_145278.5:c.*1276C>A, NM_145278.4:c.*1276C>A, NM_145278.3:c.*1276C>A, NM_001281834.2:c.*1276C>A, NM_001281834.1:c.*1276C>A, NM_001281835.2:c.*1276C>A, NM_001281835.1:c.*1276C>A, NM_001281836.2:c.*1276C>A, NM_001281836.1:c.*1276C>A, NM_001281838.2:c.*1276C>A, NM_001281838.1:c.*1276C>A, XM_047447036.1:c.*1276C>A, XM_047447037.1:c.*1276C>A, XM_047447035.1:c.*1276C>A, NM_001281853.1:c.*1276C>A, NM_001281837.1:c.*1276C>A

Select item 14905959732.

rs1490595973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247576225 (GRCh38)
1:247739527 (GRCh37)
Canonical SPDI:: NC_000001.11:247576224:C:T
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.247576225C>T, NC_000001.10:g.247739527C>T, NM_145278.5:c.*1843C>T, NM_145278.4:c.*1843C>T, NM_145278.3:c.*1843C>T, NM_001281834.2:c.*1843C>T, NM_001281834.1:c.*1843C>T, NM_001281835.2:c.*1843C>T, NM_001281835.1:c.*1843C>T, NM_001281836.2:c.*1843C>T, NM_001281836.1:c.*1843C>T, NM_001281838.2:c.*1843C>T, NM_001281838.1:c.*1843C>T, XM_047447036.1:c.*1843C>T, XM_047447037.1:c.*1843C>T, XM_047447035.1:c.*1843C>T, NM_001281853.1:c.*1843C>T, NM_001281837.1:c.*1843C>T

Select item 14903079913.

rs1490307991 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:247575133 (GRCh38)
1:247738435 (GRCh37)
Canonical SPDI:: NC_000001.11:247575132:A:G
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.247575133A>G, NC_000001.10:g.247738435A>G, NM_145278.5:c.*751A>G, NM_145278.4:c.*751A>G, NM_145278.3:c.*751A>G, NM_001281834.2:c.*751A>G, NM_001281834.1:c.*751A>G, NM_001281835.2:c.*751A>G, NM_001281835.1:c.*751A>G, NM_001281836.2:c.*751A>G, NM_001281836.1:c.*751A>G, NM_001281838.2:c.*751A>G, NM_001281838.1:c.*751A>G, XM_047447036.1:c.*751A>G, XM_047447037.1:c.*751A>G, XM_047447035.1:c.*751A>G, NM_001281853.1:c.*751A>G, NM_001281837.1:c.*751A>G

Select item 14901704654.

rs1490170465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247574162 (GRCh38)
1:247737464 (GRCh37)
Canonical SPDI:: NC_000001.11:247574161:G:A
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.247574162G>A, NC_000001.10:g.247737464G>A, NM_145278.5:c.188G>A, NM_145278.4:c.188G>A, NM_145278.3:c.188G>A, NM_001281834.2:c.128G>A, NM_001281834.1:c.128G>A, NM_001281835.2:c.128G>A, NM_001281835.1:c.128G>A, NM_001281836.2:c.92G>A, NM_001281836.1:c.92G>A, NM_001281838.2:c.92G>A, NM_001281838.1:c.92G>A, XM_047447036.1:c.188G>A, XM_047447037.1:c.188G>A, XM_047447035.1:c.188G>A, NM_001281853.1:c.188G>A, NM_001281837.1:c.92G>A, NP_660321.1:p.Gly63Asp, NP_001268763.1:p.Gly43Asp, NP_001268764.1:p.Gly43Asp, NP_001268765.1:p.Gly31Asp, NP_001268767.1:p.Gly31Asp, XP_047302992.1:p.Gly63Asp, XP_047302993.1:p.Gly63Asp, XP_047302991.1:p.Gly63Asp, NP_001268782.1:p.Gly63Asp, NP_001268766.1:p.Gly31Asp

Select item 14876405715.

rs1487640571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247574561 (GRCh38)
1:247737863 (GRCh37)
Canonical SPDI:: NC_000001.11:247574560:G:A
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.247574561G>A, NC_000001.10:g.247737863G>A, NM_145278.5:c.*179G>A, NM_145278.4:c.*179G>A, NM_145278.3:c.*179G>A, NM_001281834.2:c.*179G>A, NM_001281834.1:c.*179G>A, NM_001281835.2:c.*179G>A, NM_001281835.1:c.*179G>A, NM_001281836.2:c.*179G>A, NM_001281836.1:c.*179G>A, NM_001281838.2:c.*179G>A, NM_001281838.1:c.*179G>A, XM_047447036.1:c.*179G>A, XM_047447037.1:c.*179G>A, XM_047447035.1:c.*179G>A, NM_001281853.1:c.*179G>A, NM_001281837.1:c.*179G>A

Select item 14863673066.

rs1486367306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:247577231 (GRCh38)
1:247740533 (GRCh37)
Canonical SPDI:: NC_000001.11:247577230:C:G,NC_000001.11:247577230:C:T
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.247577231C>G, NC_000001.11:g.247577231C>T, NC_000001.10:g.247740533C>G, NC_000001.10:g.247740533C>T, NM_145278.5:c.*2849C>G, NM_145278.5:c.*2849C>T, NM_145278.4:c.*2849C>G, NM_145278.4:c.*2849C>T, NM_001281834.2:c.*2849C>G, NM_001281834.2:c.*2849C>T, NM_001281834.1:c.*2849C>G, NM_001281834.1:c.*2849C>T, NM_001281835.2:c.*2849C>G, NM_001281835.2:c.*2849C>T, NM_001281835.1:c.*2849C>G, NM_001281835.1:c.*2849C>T, NM_001281836.2:c.*2849C>G, NM_001281836.2:c.*2849C>T, NM_001281836.1:c.*2849C>G, NM_001281836.1:c.*2849C>T, NM_001281838.2:c.*2849C>G, NM_001281838.2:c.*2849C>T, NM_001281838.1:c.*2849C>G, NM_001281838.1:c.*2849C>T, XM_047447036.1:c.*2849C>G, XM_047447036.1:c.*2849C>T, XM_047447037.1:c.*2849C>G, XM_047447037.1:c.*2849C>T, XM_047447035.1:c.*2849C>G, XM_047447035.1:c.*2849C>T, NM_001281853.1:c.*2849C>G, NM_001281853.1:c.*2849C>T, NM_001281837.1:c.*2849C>G, NM_001281837.1:c.*2849C>T

Select item 14863336617.

rs1486333661 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:247576614 (GRCh38)
1:247739916 (GRCh37)
Canonical SPDI:: NC_000001.11:247576613:A:
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.247576614del, NC_000001.10:g.247739916del, NM_145278.5:c.*2232del, NM_145278.4:c.*2232del, NM_001281834.2:c.*2232del, NM_001281834.1:c.*2232del, NM_001281835.2:c.*2232del, NM_001281835.1:c.*2232del, NM_001281836.2:c.*2232del, NM_001281836.1:c.*2232del, NM_001281838.2:c.*2232del, NM_001281838.1:c.*2232del, XM_047447036.1:c.*2232del, XM_047447037.1:c.*2232del, XM_047447035.1:c.*2232del, NM_001281853.1:c.*2232del, NM_001281837.1:c.*2232del

Select item 14856803288.

rs1485680328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:247575542 (GRCh38)
1:247738844 (GRCh37)
Canonical SPDI:: NC_000001.11:247575541:A:G
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.247575542A>G, NC_000001.10:g.247738844A>G, NM_145278.5:c.*1160A>G, NM_145278.4:c.*1160A>G, NM_145278.3:c.*1160A>G, NM_001281834.2:c.*1160A>G, NM_001281834.1:c.*1160A>G, NM_001281835.2:c.*1160A>G, NM_001281835.1:c.*1160A>G, NM_001281836.2:c.*1160A>G, NM_001281836.1:c.*1160A>G, NM_001281838.2:c.*1160A>G, NM_001281838.1:c.*1160A>G, XM_047447036.1:c.*1160A>G, XM_047447037.1:c.*1160A>G, XM_047447035.1:c.*1160A>G, NM_001281853.1:c.*1160A>G, NM_001281837.1:c.*1160A>G

Select item 14851514359.

rs1485151435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247574421 (GRCh38)
1:247737723 (GRCh37)
Canonical SPDI:: NC_000001.11:247574420:C:T
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247574421C>T, NC_000001.10:g.247737723C>T, NM_145278.5:c.*39C>T, NM_145278.4:c.*39C>T, NM_145278.3:c.*39C>T, NM_001281834.2:c.*39C>T, NM_001281834.1:c.*39C>T, NM_001281835.2:c.*39C>T, NM_001281835.1:c.*39C>T, NM_001281836.2:c.*39C>T, NM_001281836.1:c.*39C>T, NM_001281838.2:c.*39C>T, NM_001281838.1:c.*39C>T, XM_047447036.1:c.*39C>T, XM_047447037.1:c.*39C>T, XM_047447035.1:c.*39C>T, NM_001281853.1:c.*39C>T, NM_001281837.1:c.*39C>T

Select item 148495922610.

rs1484959226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247556409 (GRCh38)
1:247719711 (GRCh37)
Canonical SPDI:: NC_000001.11:247556408:G:A
Gene:: GCSAML (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.247556409G>A, NC_000001.10:g.247719711G>A, NM_145278.5:c.32G>A, NM_145278.4:c.32G>A, NM_145278.3:c.32G>A, NM_001281836.2:c.-65G>A, NM_001281836.1:c.-65G>A, XM_047447036.1:c.32G>A, XM_047447037.1:c.32G>A, XM_047447035.1:c.32G>A, NM_001281853.1:c.32G>A, NM_001281837.1:c.-65G>A, NP_660321.1:p.Cys11Tyr, XP_047302992.1:p.Cys11Tyr, XP_047302993.1:p.Cys11Tyr, XP_047302991.1:p.Cys11Tyr, NP_001268782.1:p.Cys11Tyr

Select item 148321725911.

rs1483217259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247577151 (GRCh38)
1:247740453 (GRCh37)
Canonical SPDI:: NC_000001.11:247577150:C:T
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.247577151C>T, NC_000001.10:g.247740453C>T, NM_145278.5:c.*2769C>T, NM_145278.4:c.*2769C>T, NM_001281834.2:c.*2769C>T, NM_001281834.1:c.*2769C>T, NM_001281835.2:c.*2769C>T, NM_001281835.1:c.*2769C>T, NM_001281836.2:c.*2769C>T, NM_001281836.1:c.*2769C>T, NM_001281838.2:c.*2769C>T, NM_001281838.1:c.*2769C>T, XM_047447036.1:c.*2769C>T, XM_047447037.1:c.*2769C>T, XM_047447035.1:c.*2769C>T, NM_001281853.1:c.*2769C>T, NM_001281837.1:c.*2769C>T

Select item 148171357512.

rs1481713575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247556434 (GRCh38)
1:247719736 (GRCh37)
Canonical SPDI:: NC_000001.11:247556433:C:T
Gene:: GCSAML (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.247556434C>T, NC_000001.10:g.247719736C>T, NM_145278.5:c.57C>T, NM_145278.4:c.57C>T, NM_145278.3:c.57C>T, NM_001281836.2:c.-40C>T, NM_001281836.1:c.-40C>T, XM_047447036.1:c.57C>T, XM_047447037.1:c.57C>T, XM_047447035.1:c.57C>T, NM_001281853.1:c.57C>T, NM_001281837.1:c.-40C>T

Select item 148105839713.

rs1481058397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:247577476 (GRCh38)
1:247740778 (GRCh37)
Canonical SPDI:: NC_000001.11:247577475:T:G
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.247577476T>G, NC_000001.10:g.247740778T>G, NM_145278.5:c.*3094T>G, NM_145278.4:c.*3094T>G, NM_001281834.2:c.*3094T>G, NM_001281834.1:c.*3094T>G, NM_001281835.2:c.*3094T>G, NM_001281835.1:c.*3094T>G, NM_001281836.2:c.*3094T>G, NM_001281836.1:c.*3094T>G, NM_001281838.2:c.*3094T>G, NM_001281838.1:c.*3094T>G, XM_047447036.1:c.*3094T>G, XM_047447037.1:c.*3094T>G, XM_047447035.1:c.*3094T>G, NM_001281853.1:c.*3094T>G, NM_001281837.1:c.*3094T>G

Select item 148100680814.

rs1481006808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:247577602 (GRCh38)
1:247740904 (GRCh37)
Canonical SPDI:: NC_000001.11:247577601:T:A
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000001.11:g.247577602T>A, NC_000001.10:g.247740904T>A, NM_145278.5:c.*3220T>A, NM_145278.4:c.*3220T>A, NM_001281834.2:c.*3220T>A, NM_001281834.1:c.*3220T>A, NM_001281835.2:c.*3220T>A, NM_001281835.1:c.*3220T>A, NM_001281836.2:c.*3220T>A, NM_001281836.1:c.*3220T>A, NM_001281838.2:c.*3220T>A, NM_001281838.1:c.*3220T>A, XM_047447036.1:c.*3220T>A, XM_047447037.1:c.*3220T>A, XM_047447035.1:c.*3220T>A, NM_001281853.1:c.*3220T>A, NM_001281837.1:c.*3220T>A

Select item 147998861515.

rs1479988615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:247575798 (GRCh38)
1:247739100 (GRCh37)
Canonical SPDI:: NC_000001.11:247575797:G:A
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.247575798G>A, NC_000001.10:g.247739100G>A, NM_145278.5:c.*1416G>A, NM_145278.4:c.*1416G>A, NM_145278.3:c.*1416G>A, NM_001281834.2:c.*1416G>A, NM_001281834.1:c.*1416G>A, NM_001281835.2:c.*1416G>A, NM_001281835.1:c.*1416G>A, NM_001281836.2:c.*1416G>A, NM_001281836.1:c.*1416G>A, NM_001281838.2:c.*1416G>A, NM_001281838.1:c.*1416G>A, XM_047447036.1:c.*1416G>A, XM_047447037.1:c.*1416G>A, XM_047447035.1:c.*1416G>A, NM_001281853.1:c.*1416G>A, NM_001281837.1:c.*1416G>A

Select item 147958942316.

rs1479589423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:247575752 (GRCh38)
1:247739054 (GRCh37)
Canonical SPDI:: NC_000001.11:247575751:C:G,NC_000001.11:247575751:C:T
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.247575752C>G, NC_000001.11:g.247575752C>T, NC_000001.10:g.247739054C>G, NC_000001.10:g.247739054C>T, NM_145278.5:c.*1370C>G, NM_145278.5:c.*1370C>T, NM_145278.4:c.*1370C>G, NM_145278.4:c.*1370C>T, NM_145278.3:c.*1370C>G, NM_145278.3:c.*1370C>T, NM_001281834.2:c.*1370C>G, NM_001281834.2:c.*1370C>T, NM_001281834.1:c.*1370C>G, NM_001281834.1:c.*1370C>T, NM_001281835.2:c.*1370C>G, NM_001281835.2:c.*1370C>T, NM_001281835.1:c.*1370C>G, NM_001281835.1:c.*1370C>T, NM_001281836.2:c.*1370C>G, NM_001281836.2:c.*1370C>T, NM_001281836.1:c.*1370C>G, NM_001281836.1:c.*1370C>T, NM_001281838.2:c.*1370C>G, NM_001281838.2:c.*1370C>T, NM_001281838.1:c.*1370C>G, NM_001281838.1:c.*1370C>T, XM_047447036.1:c.*1370C>G, XM_047447036.1:c.*1370C>T, XM_047447037.1:c.*1370C>G, XM_047447037.1:c.*1370C>T, XM_047447035.1:c.*1370C>G, XM_047447035.1:c.*1370C>T, NM_001281853.1:c.*1370C>G, NM_001281853.1:c.*1370C>T, NM_001281837.1:c.*1370C>G, NM_001281837.1:c.*1370C>T

Select item 147813513817.

rs1478135138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:247575111 (GRCh38)
1:247738413 (GRCh37)
Canonical SPDI:: NC_000001.11:247575110:A:G
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.247575111A>G, NC_000001.10:g.247738413A>G, NM_145278.5:c.*729A>G, NM_145278.4:c.*729A>G, NM_145278.3:c.*729A>G, NM_001281834.2:c.*729A>G, NM_001281834.1:c.*729A>G, NM_001281835.2:c.*729A>G, NM_001281835.1:c.*729A>G, NM_001281836.2:c.*729A>G, NM_001281836.1:c.*729A>G, NM_001281838.2:c.*729A>G, NM_001281838.1:c.*729A>G, XM_047447036.1:c.*729A>G, XM_047447037.1:c.*729A>G, XM_047447035.1:c.*729A>G, NM_001281853.1:c.*729A>G, NM_001281837.1:c.*729A>G

Select item 147763258718.

rs1477632587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:247576794 (GRCh38)
1:247740096 (GRCh37)
Canonical SPDI:: NC_000001.11:247576793:A:G
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.247576794A>G, NC_000001.10:g.247740096A>G, NM_145278.5:c.*2412A>G, NM_145278.4:c.*2412A>G, NM_001281834.2:c.*2412A>G, NM_001281834.1:c.*2412A>G, NM_001281835.2:c.*2412A>G, NM_001281835.1:c.*2412A>G, NM_001281836.2:c.*2412A>G, NM_001281836.1:c.*2412A>G, NM_001281838.2:c.*2412A>G, NM_001281838.1:c.*2412A>G, XM_047447036.1:c.*2412A>G, XM_047447037.1:c.*2412A>G, XM_047447035.1:c.*2412A>G, NM_001281853.1:c.*2412A>G, NM_001281837.1:c.*2412A>G

Select item 147633787119.

rs1476337871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:247575976 (GRCh38)
1:247739278 (GRCh37)
Canonical SPDI:: NC_000001.11:247575975:A:G
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000214/3 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.247575976A>G, NC_000001.10:g.247739278A>G, NM_145278.5:c.*1594A>G, NM_145278.4:c.*1594A>G, NM_145278.3:c.*1594A>G, NM_001281834.2:c.*1594A>G, NM_001281834.1:c.*1594A>G, NM_001281835.2:c.*1594A>G, NM_001281835.1:c.*1594A>G, NM_001281836.2:c.*1594A>G, NM_001281836.1:c.*1594A>G, NM_001281838.2:c.*1594A>G, NM_001281838.1:c.*1594A>G, XM_047447036.1:c.*1594A>G, XM_047447037.1:c.*1594A>G, XM_047447035.1:c.*1594A>G, NM_001281853.1:c.*1594A>G, NM_001281837.1:c.*1594A>G

Select item 147617520620.

rs1476175206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:247576198 (GRCh38)
1:247739500 (GRCh37)
Canonical SPDI:: NC_000001.11:247576197:C:T
Gene:: GCSAML (Varview), LOC102724446 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.247576198C>T, NC_000001.10:g.247739500C>T, NM_145278.5:c.*1816C>T, NM_145278.4:c.*1816C>T, NM_145278.3:c.*1816C>T, NM_001281834.2:c.*1816C>T, NM_001281834.1:c.*1816C>T, NM_001281835.2:c.*1816C>T, NM_001281835.1:c.*1816C>T, NM_001281836.2:c.*1816C>T, NM_001281836.1:c.*1816C>T, NM_001281838.2:c.*1816C>T, NM_001281838.1:c.*1816C>T, XM_047447036.1:c.*1816C>T, XM_047447037.1:c.*1816C>T, XM_047447035.1:c.*1816C>T, NM_001281853.1:c.*1816C>T, NM_001281837.1:c.*1816C>T

dbSNP

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