SNP Links for Nucleotide (Select 237512967) - SNP

Links from Nucleotide

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Select item 14907977231.

rs1490797723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:179801674 (GRCh38)
5:179228674 (GRCh37)
Canonical SPDI:: NC_000005.10:179801673:A:G
Gene:: MGAT4B (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179801674A>G, NC_000005.9:g.179228674A>G, NG_011342.1:g.287A>G, NW_016107298.1:g.567247A>G, NM_014275.5:c.304T>C, NM_014275.4:c.304T>C, NM_054013.3:c.349T>C, XM_024454349.2:c.-132T>C, XM_024454349.1:c.-132T>C, NP_055090.1:p.Trp102Arg, NP_463459.1:p.Trp117Arg

Select item 14903573082.

rs1490357308 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCCGG [Show Flanks]
Chromosome:: 5:179797804 (GRCh38)
5:179224805 (GRCh37)
Canonical SPDI:: NC_000005.10:179797804:CGGTTCCGG:CGGTTCCGGTTCCGG
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGTTCCGGTTCCGG=0./0 (ALFA)
CGGTTC=0.000004/1 (TOPMED)
CGGTTC=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.179797808_179797813dup, NC_000005.9:g.179224808_179224813dup, NG_028161.2:g.8824_8829dup, NG_028161.1:g.8823_8828dup, NW_016107298.1:g.563381_563386dup, NM_014275.5:c.*235_*240dup, NM_014275.4:c.*235_*240dup, NM_054013.3:c.*235_*240dup, XM_024454349.2:c.*235_*240dup, XM_024454349.1:c.*235_*240dup

Select item 14888178703.

rs1488817870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179802410 (GRCh38)
5:179229410 (GRCh37)
Canonical SPDI:: NC_000005.10:179802409:G:A
Gene:: MGAT4B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
HGVS:: NC_000005.10:g.179802410G>A, NC_000005.9:g.179229410G>A, NG_011342.1:g.1023G>A, NW_016107298.1:g.567983G>A, NM_054013.3:c.-299C>T

Select item 14882352954.

rs1488235295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:179801672 (GRCh38)
5:179228672 (GRCh37)
Canonical SPDI:: NC_000005.10:179801671:C:G,NC_000005.10:179801671:C:T
Gene:: MGAT4B (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.179801672C>G, NC_000005.10:g.179801672C>T, NC_000005.9:g.179228672C>G, NC_000005.9:g.179228672C>T, NG_011342.1:g.285C>G, NG_011342.1:g.285C>T, NW_016107298.1:g.567245C>G, NW_016107298.1:g.567245C>T, NM_014275.5:c.306G>C, NM_014275.5:c.306G>A, NM_014275.4:c.306G>C, NM_014275.4:c.306G>A, NM_054013.3:c.351G>C, NM_054013.3:c.351G>A, XM_024454349.2:c.-130G>C, XM_024454349.2:c.-130G>A, XM_024454349.1:c.-130G>C, XM_024454349.1:c.-130G>A, NP_055090.1:p.Trp102Cys, NP_055090.1:p.Trp102Ter, NP_463459.1:p.Trp117Cys, NP_463459.1:p.Trp117Ter

Select item 14871651995.

rs1487165199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179797800 (GRCh38)
5:179224800 (GRCh37)
Canonical SPDI:: NC_000005.10:179797799:G:A
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_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_000005.10:g.179797800G>A, NC_000005.9:g.179224800G>A, NG_028161.2:g.8816G>A, NG_028161.1:g.8815G>A, NW_016107298.1:g.563373G>A, NM_014275.5:c.*245C>T, NM_014275.4:c.*245C>T, NM_054013.3:c.*245C>T, XM_024454349.2:c.*245C>T, XM_024454349.1:c.*245C>T

Select item 14864595256.

rs1486459525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:179801888 (GRCh38)
5:179228888 (GRCh37)
Canonical SPDI:: NC_000005.10:179801887:C:G,NC_000005.10:179801887:C:T
Gene:: MGAT4B (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.179801888C>G, NC_000005.10:g.179801888C>T, NC_000005.9:g.179228888C>G, NC_000005.9:g.179228888C>T, NG_011342.1:g.501C>G, NG_011342.1:g.501C>T, NW_016107298.1:g.567461C>G, NW_016107298.1:g.567461C>T, NM_014275.5:c.179G>C, NM_014275.5:c.179G>A, NM_014275.4:c.179G>C, NM_014275.4:c.179G>A, NM_054013.3:c.224G>C, NM_054013.3:c.224G>A, XM_024454349.2:c.-257G>C, XM_024454349.2:c.-257G>A, XM_024454349.1:c.-257G>C, XM_024454349.1:c.-257G>A, NP_055090.1:p.Arg60Pro, NP_055090.1:p.Arg60His, NP_463459.1:p.Arg75Pro, NP_463459.1:p.Arg75His

Select item 14861395267.

rs1486139526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179800540 (GRCh38)
5:179227540 (GRCh37)
Canonical SPDI:: NC_000005.10:179800539:G:A
Gene:: MGAT4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.179800540G>A, NC_000005.9:g.179227540G>A, NW_016107298.1:g.566113G>A, NM_014275.5:c.663C>T, NM_014275.4:c.663C>T, NM_054013.3:c.708C>T, XM_024454349.2:c.228C>T, XM_024454349.1:c.228C>T

Select item 14859783738.

rs1485978373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:179802560 (GRCh38)
5:179229560 (GRCh37)
Canonical SPDI:: NC_000005.10:179802559:A:G,NC_000005.10:179802559:A:T
Gene:: MGAT4B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.179802560A>G, NC_000005.10:g.179802560A>T, NC_000005.9:g.179229560A>G, NC_000005.9:g.179229560A>T, NG_011342.1:g.1173A>G, NG_011342.1:g.1173A>T, NW_016107298.1:g.568133A>G, NW_016107298.1:g.568133A>T, NM_054013.3:c.-449T>C, NM_054013.3:c.-449T>A

Select item 14857850559.

rs1485785055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179797915 (GRCh38)
5:179224915 (GRCh37)
Canonical SPDI:: NC_000005.10:179797914:G:A
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000071/2 (TOMMO)
A=0.000343/1 (KOREAN)
A=0.000893/4 (Estonian)
HGVS:: NC_000005.10:g.179797915G>A, NC_000005.9:g.179224915G>A, NG_028161.2:g.8931G>A, NG_028161.1:g.8930G>A, NW_016107298.1:g.563488G>A, NM_014275.5:c.*130C>T, NM_014275.4:c.*130C>T, NM_054013.3:c.*130C>T, XM_024454349.2:c.*130C>T, XM_024454349.1:c.*130C>T

Select item 148401069010.

rs1484010690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179797805 (GRCh38)
5:179224805 (GRCh37)
Canonical SPDI:: NC_000005.10:179797804:C:T
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: 3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000057/15 (TOPMED)
HGVS:: NC_000005.10:g.179797805C>T, NC_000005.9:g.179224805C>T, NG_028161.2:g.8821C>T, NG_028161.1:g.8820C>T, NW_016107298.1:g.563378C>T, NM_014275.5:c.*240G>A, NM_014275.4:c.*240G>A, NM_054013.3:c.*240G>A, XM_024454349.2:c.*240G>A, XM_024454349.1:c.*240G>A

Select item 148384463511.

rs1483844635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:179802693 (GRCh38)
5:179229693 (GRCh37)
Canonical SPDI:: NC_000005.10:179802692:C:G
Gene:: MGAT4B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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_000005.10:g.179802693C>G, NC_000005.9:g.179229693C>G, NG_011342.1:g.1306C>G, NW_016107298.1:g.568266C>G, NM_054013.3:c.-582G>C

Select item 148230220112.

rs1482302201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:179802529 (GRCh38)
5:179229529 (GRCh37)
Canonical SPDI:: NC_000005.10:179802528:T:C
Gene:: MGAT4B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179802529T>C, NC_000005.9:g.179229529T>C, NG_011342.1:g.1142T>C, NW_016107298.1:g.568102T>C, NM_054013.3:c.-418A>G

Select item 148209488613.

rs1482094886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:179800215 (GRCh38)
5:179227215 (GRCh37)
Canonical SPDI:: NC_000005.10:179800214:T:C
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179800215T>C, NC_000005.9:g.179227215T>C, NW_016107298.1:g.565788T>C, NM_014275.5:c.764A>G, NM_014275.4:c.764A>G, NM_054013.3:c.809A>G, XM_024454349.2:c.329A>G, XM_024454349.1:c.329A>G, NP_055090.1:p.Tyr255Cys, NP_463459.1:p.Tyr270Cys, XP_024310117.1:p.Tyr110Cys

Select item 148104659514.

rs1481046595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:179797849 (GRCh38)
5:179224849 (GRCh37)
Canonical SPDI:: NC_000005.10:179797848:C:G,NC_000005.10:179797848:C:T
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00074/12 (TOMMO)
HGVS:: NC_000005.10:g.179797849C>G, NC_000005.10:g.179797849C>T, NC_000005.9:g.179224849C>G, NC_000005.9:g.179224849C>T, NG_028161.2:g.8865C>G, NG_028161.2:g.8865C>T, NG_028161.1:g.8864C>G, NG_028161.1:g.8864C>T, NW_016107298.1:g.563422C>G, NW_016107298.1:g.563422C>T, NM_014275.5:c.*196G>C, NM_014275.5:c.*196G>A, NM_014275.4:c.*196G>C, NM_014275.4:c.*196G>A, NM_054013.3:c.*196G>C, NM_054013.3:c.*196G>A, XM_024454349.2:c.*196G>C, XM_024454349.2:c.*196G>A, XM_024454349.1:c.*196G>C, XM_024454349.1:c.*196G>A

Select item 147963535015.

rs1479635350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:179801452 (GRCh38)
5:179228452 (GRCh37)
Canonical SPDI:: NC_000005.10:179801451:C:A
Gene:: MGAT4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0002/1 (1000Genomes)
HGVS:: NC_000005.10:g.179801452C>A, NC_000005.9:g.179228452C>A, NG_011342.1:g.65C>A, NW_016107298.1:g.567025C>A, NM_014275.5:c.440G>T, NM_014275.4:c.440G>T, NM_054013.3:c.485G>T, XM_024454349.2:c.5G>T, XM_024454349.1:c.5G>T, NP_055090.1:p.Gly147Val, NP_463459.1:p.Gly162Val, XP_024310117.1:p.Gly2Val

Select item 147809774916.

rs1478097749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179798937 (GRCh38)
5:179225937 (GRCh37)
Canonical SPDI:: NC_000005.10:179798936:C:T
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179798937C>T, NC_000005.9:g.179225937C>T, NW_016107298.1:g.564510C>T, NM_014275.5:c.1334G>A, NM_014275.4:c.1334G>A, NM_054013.3:c.1379G>A, XM_024454349.2:c.899G>A, XM_024454349.1:c.899G>A, NP_055090.1:p.Arg445Lys, NP_463459.1:p.Arg460Lys, XP_024310117.1:p.Arg300Lys

Select item 147729919317.

rs1477299193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179802180 (GRCh38)
5:179229180 (GRCh37)
Canonical SPDI:: NC_000005.10:179802179:C:T
Gene:: MGAT4B (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_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_000005.10:g.179802180C>T, NC_000005.9:g.179229180C>T, NG_011342.1:g.793C>T, NW_016107298.1:g.567753C>T, NM_054013.3:c.-69G>A

Select item 147729637618.

rs1477296376 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 5:179801372 (GRCh38)
5:179228372 (GRCh37)
Canonical SPDI:: NC_000005.10:179801369:CTCCT:CT
Gene:: MGAT4B (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000005.10:g.179801372_179801374del, NC_000005.9:g.179228372_179228374del, NW_016107298.1:g.566945_566947del, NM_014275.5:c.520_522del, NM_014275.4:c.520_522del, NM_054013.3:c.565_567del, XM_024454349.2:c.85_87del, XM_024454349.1:c.85_87del, NP_055090.1:p.Glu174del, NP_463459.1:p.Glu189del, XP_024310117.1:p.Glu29del

Select item 147652257019.

rs1476522570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:179800231 (GRCh38)
5:179227231 (GRCh37)
Canonical SPDI:: NC_000005.10:179800230:A:G
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.179800231A>G, NC_000005.9:g.179227231A>G, NW_016107298.1:g.565804A>G, NM_014275.5:c.748T>C, NM_014275.4:c.748T>C, NM_054013.3:c.793T>C, XM_024454349.2:c.313T>C, XM_024454349.1:c.313T>C, NP_055090.1:p.Cys250Arg, NP_463459.1:p.Cys265Arg, XP_024310117.1:p.Cys105Arg

Select item 147619475720.

rs1476194757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:179802413 (GRCh38)
5:179229413 (GRCh37)
Canonical SPDI:: NC_000005.10:179802412:G:T
Gene:: MGAT4B (Varview)
Functional Consequence:: intron_variant,5_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_000005.10:g.179802413G>T, NC_000005.9:g.179229413G>T, NG_011342.1:g.1026G>T, NW_016107298.1:g.567986G>T, NM_054013.3:c.-302C>A

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