SNP Links for Gene (Select 55138) - SNP

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Select item 14914171861.

rs1491417186 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 12:8225789 (GRCh38)
12:8378385 (GRCh37)
Canonical SPDI:: NC_000012.12:8225787:CAC:C
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001012/12 (ALFA)
-=0.000937/6 (1000Genomes)
-=0.001156/162 (GnomAD)
HGVS:: NC_000012.12:g.8225789_8225790del, NC_000012.11:g.8378385_8378386del

Select item 14913724982.

rs1491372498 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCCGCAAAT,G,GCCCCCCCCCGCCAAA [Show Flanks]
Chromosome:: 12:8225788 (GRCh38)
12:8378385 (GRCh37)
Canonical SPDI:: NC_000012.12:8225788::CCCCGCAAAT,NC_000012.12:8225788::G,NC_000012.12:8225788::GCCCCCCCCCGCCAAA
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCCCCCCCCGCCAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.8225788_8225789insCCCCGCAAAT, NC_000012.12:g.8225788_8225789insG, NC_000012.12:g.8225788_8225789insGCCCCCCCCCGCCAAA, NC_000012.11:g.8378384_8378385insCCCCGCAAAT, NC_000012.11:g.8378384_8378385insG, NC_000012.11:g.8378384_8378385insGCCCCCCCCCGCCAAA

Select item 14912766573.

rs1491276657 has merged into rs1215757105 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 12:8225782 (GRCh38)
12:8378378 (GRCh37)
Canonical SPDI:: NC_000012.12:8225781:CCCCCCC:CCCCCC,NC_000012.12:8225781:CCCCCCC:CCCCCCCC
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0.00012/2 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.8225788del, NC_000012.12:g.8225788dup, NC_000012.11:g.8378384del, NC_000012.11:g.8378384dup

Select item 14912262474.

rs1491226247 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 12:8225781 (GRCh38)
12:8378377 (GRCh37)
Canonical SPDI:: NC_000012.12:8225780:TC:
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.8225781_8225782del, NC_000012.11:g.8378377_8378378del

Select item 14910018845.

rs1491001884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8223569 (GRCh38)
12:8376165 (GRCh37)
Canonical SPDI:: NC_000012.12:8223568:A:G
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.8223569A>G, NC_000012.11:g.8376165A>G

Select item 14909516136.

rs1490951613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:8224792 (GRCh38)
12:8377388 (GRCh37)
Canonical SPDI:: NC_000012.12:8224791:A:G,NC_000012.12:8224791:A:T
Gene:: FAM90A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.8224792A>G, NC_000012.12:g.8224792A>T, NC_000012.11:g.8377388A>G, NC_000012.11:g.8377388A>T, NM_018088.3:c.41T>C, NM_018088.3:c.41T>A, XM_011520719.2:c.41T>C, XM_011520719.2:c.41T>A, XM_011520719.1:c.41T>C, XM_011520719.1:c.41T>A, XM_017019547.2:c.41T>C, XM_017019547.2:c.41T>A, XM_017019547.1:c.41T>C, XM_017019547.1:c.41T>A, NM_001319982.2:c.41T>C, NM_001319982.2:c.41T>A, NM_001319982.1:c.41T>C, NM_001319982.1:c.41T>A, XM_024449030.2:c.41T>C, XM_024449030.2:c.41T>A, XM_024449030.1:c.41T>C, XM_024449030.1:c.41T>A, XM_024449029.2:c.41T>C, XM_024449029.2:c.41T>A, XM_024449029.1:c.41T>C, XM_024449029.1:c.41T>A, XM_047429059.1:c.41T>C, XM_047429059.1:c.41T>A, NP_060558.3:p.Leu14Pro, NP_060558.3:p.Leu14Gln, XP_011519021.1:p.Leu14Pro, XP_011519021.1:p.Leu14Gln, XP_016875036.1:p.Leu14Pro, XP_016875036.1:p.Leu14Gln, NP_001306911.1:p.Leu14Pro, NP_001306911.1:p.Leu14Gln, XP_024304798.1:p.Leu14Pro, XP_024304798.1:p.Leu14Gln, XP_024304797.1:p.Leu14Pro, XP_024304797.1:p.Leu14Gln, XP_047285015.1:p.Leu14Pro, XP_047285015.1:p.Leu14Gln

Select item 14907990207.

rs1490799020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:8226448 (GRCh38)
12:8379044 (GRCh37)
Canonical SPDI:: NC_000012.12:8226447:G:A
Gene:: FAM90A1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8226448G>A, NC_000012.11:g.8379044G>A, NM_018088.3:c.-390C>T, XM_011520719.2:c.-412C>T, XM_011520719.1:c.-412C>T, XM_017019547.2:c.-390C>T, XM_017019547.1:c.-390C>T, NM_001319982.2:c.-233C>T, NM_001319982.1:c.-233C>T, XM_047429059.1:c.-368C>T

Select item 14906004098.

rs1490600409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8222847 (GRCh38)
12:8375443 (GRCh37)
Canonical SPDI:: NC_000012.12:8222846:C:G
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.8222847C>G, NC_000012.11:g.8375443C>G

Select item 14905666739.

rs1490566673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:8222491 (GRCh38)
12:8375087 (GRCh37)
Canonical SPDI:: NC_000012.12:8222490:C:G
Gene:: FAM90A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.8222491C>G, NC_000012.11:g.8375087C>G, NM_018088.3:c.726G>C, XM_011520719.2:c.726G>C, XM_011520719.1:c.726G>C, XM_017019547.2:c.726G>C, XM_017019547.1:c.726G>C, NM_001319982.2:c.726G>C, NM_001319982.1:c.726G>C, XM_024449030.2:c.726G>C, XM_024449030.1:c.726G>C, XM_024449029.2:c.726G>C, XM_024449029.1:c.726G>C, XM_047429059.1:c.726G>C, NP_060558.3:p.Gln242His, XP_011519021.1:p.Gln242His, XP_016875036.1:p.Gln242His, NP_001306911.1:p.Gln242His, XP_024304798.1:p.Gln242His, XP_024304797.1:p.Gln242His, XP_047285015.1:p.Gln242His

Select item 149023929410.

rs1490239294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8221876 (GRCh38)
12:8374472 (GRCh37)
Canonical SPDI:: NC_000012.12:8221875:A:G
Gene:: FAM90A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.8221876A>G, NC_000012.11:g.8374472A>G, NM_018088.3:c.1341T>C, XM_011520719.2:c.1341T>C, XM_011520719.1:c.1341T>C, XM_017019547.2:c.1341T>C, XM_017019547.1:c.1341T>C, NM_001319982.2:c.1341T>C, NM_001319982.1:c.1341T>C, XM_024449030.2:c.1341T>C, XM_024449030.1:c.1341T>C, XM_024449029.2:c.1341T>C, XM_024449029.1:c.1341T>C, XM_047429059.1:c.1341T>C

Select item 149021368511.

rs1490213685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:8221289 (GRCh38)
12:8373885 (GRCh37)
Canonical SPDI:: NC_000012.12:8221288:A:G
Gene:: FAM90A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.8221289A>G, NC_000012.11:g.8373885A>G, NM_018088.3:c.*533T>C, XM_011520719.2:c.*533T>C, XM_011520719.1:c.*533T>C, XM_017019547.2:c.*533T>C, XM_017019547.1:c.*533T>C, NM_001319982.2:c.*533T>C, NM_001319982.1:c.*533T>C, XM_024449030.2:c.*533T>C, XM_024449030.1:c.*533T>C, XM_024449029.2:c.*533T>C, XM_024449029.1:c.*533T>C, XM_047429059.1:c.*533T>C

Select item 149001865312.

rs1490018653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:8224784 (GRCh38)
12:8377380 (GRCh37)
Canonical SPDI:: NC_000012.12:8224783:C:A
Gene:: FAM90A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.8224784C>A, NC_000012.11:g.8377380C>A, NM_018088.3:c.49G>T, XM_011520719.2:c.49G>T, XM_011520719.1:c.49G>T, XM_017019547.2:c.49G>T, XM_017019547.1:c.49G>T, NM_001319982.2:c.49G>T, NM_001319982.1:c.49G>T, XM_024449030.2:c.49G>T, XM_024449030.1:c.49G>T, XM_024449029.2:c.49G>T, XM_024449029.1:c.49G>T, XM_047429059.1:c.49G>T, NP_060558.3:p.Ala17Ser, XP_011519021.1:p.Ala17Ser, XP_016875036.1:p.Ala17Ser, NP_001306911.1:p.Ala17Ser, XP_024304798.1:p.Ala17Ser, XP_024304797.1:p.Ala17Ser, XP_047285015.1:p.Ala17Ser

Select item 148997858513.

rs1489978585 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:8226203 (GRCh38)
12:8378799 (GRCh37)
Canonical SPDI:: NC_000012.12:8226202:CT:
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.8226203_8226204del, NC_000012.11:g.8378799_8378800del

Select item 148986527214.

rs1489865272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:8226769 (GRCh38)
12:8379365 (GRCh37)
Canonical SPDI:: NC_000012.12:8226768:A:T
Gene:: FAM90A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.02088/61 (KOREAN)
HGVS:: NC_000012.12:g.8226769A>T, NC_000012.11:g.8379365A>T

Select item 148982987715.

rs1489829877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8223752 (GRCh38)
12:8376348 (GRCh37)
Canonical SPDI:: NC_000012.12:8223751:G:T
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8223752G>T, NC_000012.11:g.8376348G>T

Select item 148948801916.

rs1489488019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8220940 (GRCh38)
12:8373536 (GRCh37)
Canonical SPDI:: NC_000012.12:8220939:C:T
Gene:: FAM90A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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.8220940C>T, NC_000012.11:g.8373536C>T

Select item 148945904617.

rs1489459046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:8225322 (GRCh38)
12:8377918 (GRCh37)
Canonical SPDI:: NC_000012.12:8225321:C:T
Gene:: FAM90A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.8225322C>T, NC_000012.11:g.8377918C>T

Select item 148908486018.

rs1489084860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:8221272 (GRCh38)
12:8373868 (GRCh37)
Canonical SPDI:: NC_000012.12:8221271:G:T
Gene:: FAM90A1 (Varview)
Functional Consequence:: 3_prime_UTR_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.8221272G>T, NC_000012.11:g.8373868G>T, NM_018088.3:c.*550C>A, XM_011520719.2:c.*550C>A, XM_011520719.1:c.*550C>A, XM_017019547.2:c.*550C>A, XM_017019547.1:c.*550C>A, NM_001319982.2:c.*550C>A, NM_001319982.1:c.*550C>A, XM_024449030.2:c.*550C>A, XM_024449030.1:c.*550C>A, XM_024449029.2:c.*550C>A, XM_024449029.1:c.*550C>A, XM_047429059.1:c.*550C>A

Select item 148903322419.

rs1489033224 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTT>- [Show Flanks]
Chromosome:: 12:8220830 (GRCh38)
12:8373426 (GRCh37)
Canonical SPDI:: NC_000012.12:8220828:TTCTTT:T
Gene:: FAM90A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.8220830_8220834del, NC_000012.11:g.8373426_8373430del

Select item 148900257120.

rs1489002571 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:8221049 (GRCh38)
12:8373645 (GRCh37)
Canonical SPDI:: NC_000012.12:8221048:GG:G
Gene:: FAM90A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000012.12:g.8221050del, NC_000012.11:g.8373646del

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