SNP Links for Gene (Select 4247) - SNP

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Select item 14904255721.

rs1490425572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:49619618 (GRCh38)
14:50086336 (GRCh37)
Canonical SPDI:: NC_000014.9:49619617:G:A
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000014.9:g.49619618G>A, NC_000014.8:g.50086336G>A, NG_008920.1:g.3848G>A, NG_033054.1:g.6014C>T

Select item 14871429162.

rs1487142916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49622896 (GRCh38)
14:50089614 (GRCh37)
Canonical SPDI:: NC_000014.9:49622895:A:G
Gene:: MGAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.49622896A>G, NC_000014.8:g.50089614A>G, NG_008920.1:g.7126A>G, NM_002408.4:c.*284A>G, NM_002408.3:c.*284A>G, NG_033054.1:g.2736T>C, NM_001015883.1:c.*284A>G

Select item 14867892533.

rs1486789253 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:49621658 (GRCh38)
14:50088376 (GRCh37)
Canonical SPDI:: NC_000014.9:49621657:C:A
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49621658C>A, NC_000014.8:g.50088376C>A, NG_008920.1:g.5888C>A, NM_002408.4:c.390C>A, NM_002408.3:c.390C>A, NG_033054.1:g.3974G>T, NM_001015883.1:c.390C>A, NP_002399.1:p.Tyr130Ter

Select item 14862525214.

rs1486252521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:49623291 (GRCh38)
14:50090009 (GRCh37)
Canonical SPDI:: NC_000014.9:49623290:C:T
Gene:: MGAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.49623291C>T, NC_000014.8:g.50090009C>T, NG_013070.1:g.16940G>A, NG_008920.1:g.7521C>T, NM_002408.4:c.*679C>T, NM_002408.3:c.*679C>T, NG_033054.1:g.2341G>A, NM_001015883.1:c.*679C>T

Select item 14860712135.

rs1486071213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:49622290 (GRCh38)
14:50089008 (GRCh37)
Canonical SPDI:: NC_000014.9:49622289:A:G,NC_000014.9:49622289:A:T
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.49622290A>G, NC_000014.9:g.49622290A>T, NC_000014.8:g.50089008A>G, NC_000014.8:g.50089008A>T, NG_008920.1:g.6520A>G, NG_008920.1:g.6520A>T, NM_002408.4:c.1022A>G, NM_002408.4:c.1022A>T, NM_002408.3:c.1022A>G, NM_002408.3:c.1022A>T, NG_033054.1:g.3342T>C, NG_033054.1:g.3342T>A, NM_001015883.1:c.1022A>G, NM_001015883.1:c.1022A>T, NP_002399.1:p.Tyr341Cys, NP_002399.1:p.Tyr341Phe

Select item 14858052746.

rs1485805274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:49622012 (GRCh38)
14:50088730 (GRCh37)
Canonical SPDI:: NC_000014.9:49622011:T:C
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.49622012T>C, NC_000014.8:g.50088730T>C, NG_008920.1:g.6242T>C, NM_002408.4:c.744T>C, NM_002408.3:c.744T>C, NG_033054.1:g.3620A>G, NM_001015883.1:c.744T>C

Select item 14855412607.

rs1485541260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49620426 (GRCh38)
14:50087144 (GRCh37)
Canonical SPDI:: NC_000014.9:49620425:A:G
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.49620426A>G, NC_000014.8:g.50087144A>G, NG_008920.1:g.4656A>G, NG_033054.1:g.5206T>C

Select item 14852886168.

rs1485288616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:49619646 (GRCh38)
14:50086364 (GRCh37)
Canonical SPDI:: NC_000014.9:49619645:C:T
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.49619646C>T, NC_000014.8:g.50086364C>T, NG_008920.1:g.3876C>T, NG_033054.1:g.5986G>A

Select item 14839402279.

rs1483940227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49619895 (GRCh38)
14:50086613 (GRCh37)
Canonical SPDI:: NC_000014.9:49619894:A:G
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.49619895A>G, NC_000014.8:g.50086613A>G, NG_008920.1:g.4125A>G, NG_033054.1:g.5737T>C

Select item 148386718410.

rs1483867184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:49620332 (GRCh38)
14:50087050 (GRCh37)
Canonical SPDI:: NC_000014.9:49620331:C:T
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.49620332C>T, NC_000014.8:g.50087050C>T, NG_008920.1:g.4562C>T, NG_033054.1:g.5300G>A

Select item 148360857311.

rs1483608573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:49621030 (GRCh38)
14:50087748 (GRCh37)
Canonical SPDI:: NC_000014.9:49621029:G:T
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.49621030G>T, NC_000014.8:g.50087748G>T, NG_008920.1:g.5260G>T, NM_002408.4:c.-239G>T, NM_002408.3:c.-239G>T, NG_033054.1:g.4602C>A, NM_001015883.1:c.-42G>T

Select item 148314069812.

rs1483140698 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 14:49620770 (GRCh38)
14:50087488 (GRCh37)
Canonical SPDI:: NC_000014.9:49620769:T:
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.49620770del, NC_000014.8:g.50087488del, NG_008920.1:g.5000del, NG_033054.1:g.4862del

Select item 148278371513.

rs1482783715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:49621112 (GRCh38)
14:50087830 (GRCh37)
Canonical SPDI:: NC_000014.9:49621111:G:A
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.49621112G>A, NC_000014.8:g.50087830G>A, NG_008920.1:g.5342G>A, NM_002408.4:c.-157G>A, NM_002408.3:c.-157G>A, NG_033054.1:g.4520C>T

Select item 148196095914.

rs1481960959 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:49622588 (GRCh38)
14:50089307 (GRCh37)
Canonical SPDI:: NC_000014.9:49622588:AAAA:AAAAA
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.49622592dup, NC_000014.8:g.50089310dup, NG_008920.1:g.6822dup, NM_002408.4:c.1324dup, NM_002408.3:c.1324dup, NG_033054.1:g.3043dup, NM_001015883.1:c.1324dup, NP_002399.1:p.Ser442fs

Select item 148180238615.

rs1481802386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:49621527 (GRCh38)
14:50088245 (GRCh37)
Canonical SPDI:: NC_000014.9:49621526:C:T
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.49621527C>T, NC_000014.8:g.50088245C>T, NG_008920.1:g.5757C>T, NM_002408.4:c.259C>T, NM_002408.3:c.259C>T, NG_033054.1:g.4105G>A, NM_001015883.1:c.259C>T

Select item 148148536816.

rs1481485368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:49622998 (GRCh38)
14:50089716 (GRCh37)
Canonical SPDI:: NC_000014.9:49622997:C:G,NC_000014.9:49622997:C:T
Gene:: MGAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (Korea1K)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.49622998C>G, NC_000014.9:g.49622998C>T, NC_000014.8:g.50089716C>G, NC_000014.8:g.50089716C>T, NG_008920.1:g.7228C>G, NG_008920.1:g.7228C>T, NM_002408.4:c.*386C>G, NM_002408.4:c.*386C>T, NM_002408.3:c.*386C>G, NM_002408.3:c.*386C>T, NG_033054.1:g.2634G>C, NG_033054.1:g.2634G>A, NM_001015883.1:c.*386C>G, NM_001015883.1:c.*386C>T

Select item 148140687317.

rs1481406873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:49622218 (GRCh38)
14:50088936 (GRCh37)
Canonical SPDI:: NC_000014.9:49622217:A:G
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.49622218A>G, NC_000014.8:g.50088936A>G, NG_008920.1:g.6448A>G, NM_002408.4:c.950A>G, NM_002408.3:c.950A>G, NG_033054.1:g.3414T>C, NM_001015883.1:c.950A>G, NP_002399.1:p.His317Arg

Select item 148097136418.

rs1480971364 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 14:49619643 (GRCh38)
14:50086361 (GRCh37)
Canonical SPDI:: NC_000014.9:49619640:AAGAA:AA
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.49619643_49619645del, NC_000014.8:g.50086361_50086363del, NG_008920.1:g.3873_3875del, NG_033054.1:g.5989_5991del

Select item 148055456519.

rs1480554565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:49622909 (GRCh38)
14:50089627 (GRCh37)
Canonical SPDI:: NC_000014.9:49622908:T:G
Gene:: MGAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.49622909T>G, NC_000014.8:g.50089627T>G, NG_008920.1:g.7139T>G, NM_002408.4:c.*297T>G, NM_002408.3:c.*297T>G, NG_033054.1:g.2723A>C, NM_001015883.1:c.*297T>G

Select item 147998837020.

rs1479988370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:49620019 (GRCh38)
14:50086737 (GRCh37)
Canonical SPDI:: NC_000014.9:49620018:T:C
Gene:: MGAT2 (Varview), RPL36AL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.49620019T>C, NC_000014.8:g.50086737T>C, NG_008920.1:g.4249T>C, NG_033054.1:g.5613A>G

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