SNP Links for Protein (Select 7710152) - SNP

Links from Protein

Items: 1 to 20 of 626

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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 14907615312.

rs1490761531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179806539 (GRCh38)
5:179233539 (GRCh37)
Canonical SPDI:: NC_000005.10:179806538:G:A
Gene:: SQSTM1 (Varview), MGAT4B (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000005.10:g.179806539G>A, NC_000005.9:g.179233539G>A, NG_011342.1:g.5152G>A, NM_001142298.2:c.-209G>A, NM_001142298.1:c.-209G>A, NW_016107298.1:g.572108G>A, NM_014275.5:c.45C>T, NM_014275.4:c.45C>T

Select item 14882352953.

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 14864595254.

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 14861395265.

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 14820948866.

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 14796353507.

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 14780977498.

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 14772963769.

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 147652257010.

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 147323538611.

rs1473235386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179800546 (GRCh38)
5:179227546 (GRCh37)
Canonical SPDI:: NC_000005.10:179800545:G:A
Gene:: MGAT4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.179800546G>A, NC_000005.9:g.179227546G>A, NW_016107298.1:g.566119G>A, NM_014275.5:c.657C>T, NM_014275.4:c.657C>T, NM_054013.3:c.702C>T, XM_024454349.2:c.222C>T, XM_024454349.1:c.222C>T

Select item 147013828012.

rs1470138280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:179806494 (GRCh38)
5:179233494 (GRCh37)
Canonical SPDI:: NC_000005.10:179806493:G:A,NC_000005.10:179806493:G:C
Gene:: SQSTM1 (Varview), MGAT4B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.179806494G>A, NC_000005.10:g.179806494G>C, NC_000005.9:g.179233494G>A, NC_000005.9:g.179233494G>C, NG_011342.1:g.5107G>A, NG_011342.1:g.5107G>C, NM_001142298.2:c.-254G>A, NM_001142298.2:c.-254G>C, NM_001142298.1:c.-254G>A, NM_001142298.1:c.-254G>C, NW_016107298.1:g.572063G>A, NW_016107298.1:g.572063G>C, NM_014275.5:c.90C>T, NM_014275.5:c.90C>G, NM_014275.4:c.90C>T, NM_014275.4:c.90C>G

Select item 146835315013.

rs1468353150 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCT>- [Show Flanks]
Chromosome:: 5:179801904 (GRCh38)
5:179228904 (GRCh37)
Canonical SPDI:: NC_000005.10:179801901:CTGCT:CT
Gene:: MGAT4B (Varview)
Functional Consequence:: inframe_deletion,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179801904_179801906del, NC_000005.9:g.179228904_179228906del, NG_011342.1:g.517_519del, NW_016107298.1:g.567477_567479del, NM_014275.5:c.163_165del, NM_014275.4:c.163_165del, NM_054013.3:c.208_210del, XM_024454349.2:c.-273_-271del, XM_024454349.1:c.-273_-271del, NP_055090.1:p.Gln55del, NP_463459.1:p.Gln70del

Select item 146604806614.

rs1466048066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:179799598 (GRCh38)
5:179226598 (GRCh37)
Canonical SPDI:: NC_000005.10:179799597:C:G
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.179799598C>G, NC_000005.9:g.179226598C>G, NW_016107298.1:g.565171C>G, NM_014275.5:c.949G>C, NM_014275.4:c.949G>C, NM_054013.3:c.994G>C, XM_024454349.2:c.514G>C, XM_024454349.1:c.514G>C, NP_055090.1:p.Glu317Gln, NP_463459.1:p.Glu332Gln, XP_024310117.1:p.Glu172Gln

Select item 146370971215.

rs1463709712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179799985 (GRCh38)
5:179226985 (GRCh37)
Canonical SPDI:: NC_000005.10:179799984:C:T
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179799985C>T, NC_000005.9:g.179226985C>T, NW_016107298.1:g.565558C>T, NM_014275.5:c.879G>A, NM_014275.4:c.879G>A, NM_054013.3:c.924G>A, XM_024454349.2:c.444G>A, XM_024454349.1:c.444G>A, NP_055090.1:p.Met293Ile, NP_463459.1:p.Met308Ile, XP_024310117.1:p.Met148Ile

Select item 145971052716.

rs1459710527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:179806570 (GRCh38)
5:179233570 (GRCh37)
Canonical SPDI:: NC_000005.10:179806569:T:C
Gene:: SQSTM1 (Varview), MGAT4B (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000021/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179806570T>C, NC_000005.9:g.179233570T>C, NG_011342.1:g.5183T>C, NM_001142298.2:c.-178T>C, NM_001142298.1:c.-178T>C, NW_016107298.1:g.572139T>C, NM_014275.5:c.14A>G, NM_014275.4:c.14A>G, NP_055090.1:p.Asn5Ser

Select item 145920976617.

rs1459209766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179798928 (GRCh38)
5:179225928 (GRCh37)
Canonical SPDI:: NC_000005.10:179798927:C:T
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.179798928C>T, NC_000005.9:g.179225928C>T, NW_016107298.1:g.564501C>T, NM_014275.5:c.1343G>A, NM_014275.4:c.1343G>A, NM_054013.3:c.1388G>A, XM_024454349.2:c.908G>A, XM_024454349.1:c.908G>A, NP_055090.1:p.Arg448Gln, NP_463459.1:p.Arg463Gln, XP_024310117.1:p.Arg303Gln

Select item 145574343518.

rs1455743435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:179798196 (GRCh38)
5:179225196 (GRCh37)
Canonical SPDI:: NC_000005.10:179798195:G:A,NC_000005.10:179798195:G:T
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000045/2 (ALFA)
A=0.000009/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.179798196G>A, NC_000005.10:g.179798196G>T, NC_000005.9:g.179225196G>A, NC_000005.9:g.179225196G>T, NG_028161.2:g.9212G>A, NG_028161.2:g.9212G>T, NG_028161.1:g.9211G>A, NG_028161.1:g.9211G>T, NW_016107298.1:g.563769G>A, NW_016107298.1:g.563769G>T, NM_014275.5:c.1592C>T, NM_014275.5:c.1592C>A, NM_014275.4:c.1592C>T, NM_014275.4:c.1592C>A, NM_054013.3:c.1637C>T, NM_054013.3:c.1637C>A, XM_024454349.2:c.1157C>T, XM_024454349.2:c.1157C>A, XM_024454349.1:c.1157C>T, XM_024454349.1:c.1157C>A, NP_055090.1:p.Thr531Met, NP_055090.1:p.Thr531Lys, NP_463459.1:p.Thr546Met, NP_463459.1:p.Thr546Lys, XP_024310117.1:p.Thr386Met, XP_024310117.1:p.Thr386Lys

Select item 145562764619.

rs1455627646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:179801864 (GRCh38)
5:179228864 (GRCh37)
Canonical SPDI:: NC_000005.10:179801863:A:T
Gene:: MGAT4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000005.10:g.179801864A>T, NC_000005.9:g.179228864A>T, NG_011342.1:g.477A>T, NW_016107298.1:g.567437A>T, NM_014275.5:c.203T>A, NM_014275.4:c.203T>A, NM_054013.3:c.248T>A, XM_024454349.2:c.-233T>A, XM_024454349.1:c.-233T>A, NP_055090.1:p.Leu68Gln, NP_463459.1:p.Leu83Gln

Select item 145428706720.

rs1454287067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:179798205 (GRCh38)
5:179225205 (GRCh37)
Canonical SPDI:: NC_000005.10:179798204:G:A,NC_000005.10:179798204:G:T
Gene:: MGAT4B (Varview), MIR1229 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179798205G>A, NC_000005.10:g.179798205G>T, NC_000005.9:g.179225205G>A, NC_000005.9:g.179225205G>T, NG_028161.2:g.9221G>A, NG_028161.2:g.9221G>T, NG_028161.1:g.9220G>A, NG_028161.1:g.9220G>T, NW_016107298.1:g.563778G>A, NW_016107298.1:g.563778G>T, NM_014275.5:c.1583C>T, NM_014275.5:c.1583C>A, NM_014275.4:c.1583C>T, NM_014275.4:c.1583C>A, NM_054013.3:c.1628C>T, NM_054013.3:c.1628C>A, XM_024454349.2:c.1148C>T, XM_024454349.2:c.1148C>A, XM_024454349.1:c.1148C>T, XM_024454349.1:c.1148C>A, NP_055090.1:p.Ser528Leu, NP_055090.1:p.Ser528Ter, NP_463459.1:p.Ser543Leu, NP_463459.1:p.Ser543Ter, XP_024310117.1:p.Ser383Leu, XP_024310117.1:p.Ser383Ter

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