SNP Links for Protein (Select 767969186) - SNP

Links from Protein

Items: 1 to 20 of 158

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Select item 14762996441.

rs1476299644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:60229945 (GRCh38)
11:59997418 (GRCh37)
Canonical SPDI:: NC_000011.10:60229944:C:G
Gene:: MS4A4E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.60229945C>G, NC_000011.9:g.59997418C>G, XM_011545416.3:c.111G>C, XM_011545416.2:c.111G>C, XM_011545416.1:c.111G>C, XM_017018641.2:c.111G>C, XM_017018641.1:c.111G>C, NM_001351235.2:c.38G>C, NM_001351235.1:c.38G>C, NM_001393391.1:c.111G>C, XR_007062493.1:n.307G>C, XP_011543718.1:p.Glu37Asp, XP_016874130.1:p.Glu37Asp, NP_001338164.1:p.Arg13Thr, NP_001380320.1:p.Glu37Asp

Select item 14729028832.

rs1472902883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:60213012 (GRCh38)
11:59980485 (GRCh37)
Canonical SPDI:: NC_000011.10:60213011:A:T
Gene:: MS4A4E (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.60213012A>T, NC_000011.9:g.59980485A>T, XM_011545416.3:c.343T>A, XM_011545416.2:c.343T>A, XM_011545416.1:c.343T>A, XM_017018641.2:c.343T>A, XM_017018641.1:c.343T>A, NM_001393391.1:c.343T>A, XR_007062493.1:n.739T>A, XP_011543718.1:p.Leu115Met, XP_016874130.1:p.Leu115Met, NP_001380320.1:p.Leu115Met

Select item 14687658873.

rs1468765887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:60208666 (GRCh38)
11:59976139 (GRCh37)
Canonical SPDI:: NC_000011.10:60208665:C:A
Gene:: MS4A4E (Varview), MIR6503 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.60208666C>A, NC_000011.9:g.59976139C>A, XM_011545416.3:c.410G>T, XM_011545416.2:c.410G>T, XM_011545416.1:c.410G>T, XM_017018641.2:c.410G>T, XM_017018641.1:c.410G>T, NM_001393391.1:c.410G>T, XR_007062493.1:n.1270G>T, XP_011543718.1:p.Ser137Ile, XP_016874130.1:p.Ser137Ile, NP_001380320.1:p.Ser137Ile

Select item 14678865774.

rs1467886577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:60214573 (GRCh38)
11:59982046 (GRCh37)
Canonical SPDI:: NC_000011.10:60214572:G:C
Gene:: MS4A4E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.60214573G>C, NC_000011.9:g.59982046G>C, XM_011545416.3:c.220C>G, XM_011545416.2:c.220C>G, XM_011545416.1:c.220C>G, XM_017018641.2:c.220C>G, XM_017018641.1:c.220C>G, NM_001351235.2:c.276C>G, NM_001351235.1:c.276C>G, NM_001393391.1:c.220C>G, XR_007062493.1:n.416C>G, XP_011543718.1:p.Leu74Val, XP_016874130.1:p.Leu74Val, NP_001380320.1:p.Leu74Val

Select item 14655630985.

rs1465563098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60212992 (GRCh38)
11:59980465 (GRCh37)
Canonical SPDI:: NC_000011.10:60212991:C:T
Gene:: MS4A4E (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60212992C>T, NC_000011.9:g.59980465C>T, XM_011545416.3:c.363G>A, XM_011545416.2:c.363G>A, XM_011545416.1:c.363G>A, XM_017018641.2:c.363G>A, XM_017018641.1:c.363G>A, NM_001393391.1:c.363G>A, XR_007062493.1:n.759G>A, XP_011543718.1:p.Met121Ile, XP_016874130.1:p.Met121Ile, NP_001380320.1:p.Met121Ile

Select item 14612687776.

rs1461268777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:60208691 (GRCh38)
11:59976164 (GRCh37)
Canonical SPDI:: NC_000011.10:60208690:T:G
Gene:: MS4A4E (Varview), MIR6503 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60208691T>G, NC_000011.9:g.59976164T>G, XM_011545416.3:c.385A>C, XM_011545416.2:c.385A>C, XM_011545416.1:c.385A>C, XM_017018641.2:c.385A>C, XM_017018641.1:c.385A>C, NM_001393391.1:c.385A>C, XR_007062493.1:n.1245A>C, XP_011543718.1:p.Thr129Pro, XP_016874130.1:p.Thr129Pro, NP_001380320.1:p.Thr129Pro

Select item 14581125217.

rs1458112521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:60205794 (GRCh38)
11:59973267 (GRCh37)
Canonical SPDI:: NC_000011.10:60205793:A:T
Gene:: MS4A4E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.60205794A>T, NC_000011.9:g.59973267A>T, XM_011545416.3:c.510T>A, XM_011545416.2:c.510T>A, XM_011545416.1:c.510T>A, NM_001393391.1:c.510T>A

Select item 14411790298.

rs1441179029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:60208652 (GRCh38)
11:59976125 (GRCh37)
Canonical SPDI:: NC_000011.10:60208651:A:C
Gene:: MS4A4E (Varview), MIR6503 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60208652A>C, NC_000011.9:g.59976125A>C, XM_011545416.3:c.424T>G, XM_011545416.2:c.424T>G, XM_011545416.1:c.424T>G, XM_017018641.2:c.424T>G, XM_017018641.1:c.424T>G, NM_001393391.1:c.424T>G, XR_007062493.1:n.1284T>G, XP_011543718.1:p.Cys142Gly, XP_016874130.1:p.Cys142Gly, NP_001380320.1:p.Cys142Gly

Select item 14321100899.

rs1432110089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:60212985 (GRCh38)
11:59980458 (GRCh37)
Canonical SPDI:: NC_000011.10:60212984:A:C
Gene:: MS4A4E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.60212985A>C, NC_000011.9:g.59980458A>C, XM_011545416.3:c.370T>G, XM_011545416.2:c.370T>G, XM_011545416.1:c.370T>G, XM_017018641.2:c.370T>G, XM_017018641.1:c.370T>G, NM_001393391.1:c.370T>G, XR_007062493.1:n.766T>G, XP_011543718.1:p.Ser124Ala, XP_016874130.1:p.Ser124Ala, NP_001380320.1:p.Ser124Ala

Select item 142860982310.

rs1428609823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:60208683 (GRCh38)
11:59976156 (GRCh37)
Canonical SPDI:: NC_000011.10:60208682:G:C
Gene:: MS4A4E (Varview), MIR6503 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60208683G>C, NC_000011.9:g.59976156G>C, XM_011545416.3:c.393C>G, XM_011545416.2:c.393C>G, XM_011545416.1:c.393C>G, XM_017018641.2:c.393C>G, XM_017018641.1:c.393C>G, NM_001393391.1:c.393C>G, XR_007062493.1:n.1253C>G

Select item 142614206711.

rs1426142067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60205819 (GRCh38)
11:59973292 (GRCh37)
Canonical SPDI:: NC_000011.10:60205818:C:T
Gene:: MS4A4E (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60205819C>T, NC_000011.9:g.59973292C>T, XM_011545416.3:c.485G>A, XM_011545416.2:c.485G>A, XM_011545416.1:c.485G>A, NM_001393391.1:c.485G>A, XP_011543718.1:p.Ser162Asn, NP_001380320.1:p.Ser162Asn

Select item 141616343312.

rs1416163433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60214571 (GRCh38)
11:59982044 (GRCh37)
Canonical SPDI:: NC_000011.10:60214570:C:T
Gene:: MS4A4E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.60214571C>T, NC_000011.9:g.59982044C>T, XM_011545416.3:c.222G>A, XM_011545416.2:c.222G>A, XM_011545416.1:c.222G>A, XM_017018641.2:c.222G>A, XM_017018641.1:c.222G>A, NM_001351235.2:c.278G>A, NM_001351235.1:c.278G>A, NM_001393391.1:c.222G>A, XR_007062493.1:n.418G>A, NP_001338164.1:p.Cys93Tyr

Select item 140792626013.

rs1407926260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:60214575 (GRCh38)
11:59982048 (GRCh37)
Canonical SPDI:: NC_000011.10:60214574:C:A,NC_000011.10:60214574:C:T
Gene:: MS4A4E (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.60214575C>A, NC_000011.10:g.60214575C>T, NC_000011.9:g.59982048C>A, NC_000011.9:g.59982048C>T, XM_011545416.3:c.218G>T, XM_011545416.3:c.218G>A, XM_011545416.2:c.218G>T, XM_011545416.2:c.218G>A, XM_011545416.1:c.218G>T, XM_011545416.1:c.218G>A, XM_017018641.2:c.218G>T, XM_017018641.2:c.218G>A, XM_017018641.1:c.218G>T, XM_017018641.1:c.218G>A, NM_001351235.2:c.274G>T, NM_001351235.2:c.274G>A, NM_001351235.1:c.274G>T, NM_001351235.1:c.274G>A, NM_001393391.1:c.218G>T, NM_001393391.1:c.218G>A, XR_007062493.1:n.414G>T, XR_007062493.1:n.414G>A, XP_011543718.1:p.Gly73Val, XP_011543718.1:p.Gly73Asp, XP_016874130.1:p.Gly73Val, XP_016874130.1:p.Gly73Asp, NP_001338164.1:p.Val92Phe, NP_001338164.1:p.Val92Ile, NP_001380320.1:p.Gly73Val, NP_001380320.1:p.Gly73Asp

Select item 140563634614.

rs1405636346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:60214606 (GRCh38)
11:59982079 (GRCh37)
Canonical SPDI:: NC_000011.10:60214605:A:T
Gene:: MS4A4E (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60214606A>T, NC_000011.9:g.59982079A>T, XM_011545416.3:c.187T>A, XM_011545416.2:c.187T>A, XM_011545416.1:c.187T>A, XM_017018641.2:c.187T>A, XM_017018641.1:c.187T>A, NM_001351235.2:c.243T>A, NM_001351235.1:c.243T>A, NM_001393391.1:c.187T>A, XR_007062493.1:n.383T>A, XP_011543718.1:p.Ser63Thr, XP_016874130.1:p.Ser63Thr, NP_001338164.1:p.Tyr81Ter, NP_001380320.1:p.Ser63Thr

Select item 140003964515.

rs1400039645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:60213112 (GRCh38)
11:59980585 (GRCh37)
Canonical SPDI:: NC_000011.10:60213111:C:G
Gene:: MS4A4E (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.60213112C>G, NC_000011.9:g.59980585C>G, XM_011545416.3:c.243G>C, XM_011545416.2:c.243G>C, XM_011545416.1:c.243G>C, XM_017018641.2:c.243G>C, XM_017018641.1:c.243G>C, NM_001393391.1:c.243G>C, XR_007062493.1:n.639G>C, XP_011543718.1:p.Lys81Asn, XP_016874130.1:p.Lys81Asn, NP_001380320.1:p.Lys81Asn

Select item 139791426416.

rs1397914264 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:60208672 (GRCh38)
11:59976145 (GRCh37)
Canonical SPDI:: NC_000011.10:60208671:A:
Gene:: MS4A4E (Varview), MIR6503 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60208672del, NC_000011.9:g.59976145del, XM_011545416.3:c.404del, XM_011545416.2:c.404del, XM_011545416.1:c.404del, XM_017018641.2:c.404del, XM_017018641.1:c.404del, NM_001393391.1:c.404del, XR_007062493.1:n.1264del, XP_011543718.1:p.Leu135fs, XP_016874130.1:p.Leu135fs, NP_001380320.1:p.Leu135fs

Select item 139538927617.

rs1395389276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60229976 (GRCh38)
11:59997449 (GRCh37)
Canonical SPDI:: NC_000011.10:60229975:A:G
Gene:: MS4A4E (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.60229976A>G, NC_000011.9:g.59997449A>G, XM_011545416.3:c.80T>C, XM_011545416.2:c.80T>C, XM_011545416.1:c.80T>C, XM_017018641.2:c.80T>C, XM_017018641.1:c.80T>C, NM_001351235.2:c.7T>C, NM_001351235.1:c.7T>C, NM_001393391.1:c.80T>C, XR_007062493.1:n.276T>C, XP_011543718.1:p.Ile27Thr, XP_016874130.1:p.Ile27Thr, NP_001338164.1:p.Tyr3His, NP_001380320.1:p.Ile27Thr

Select item 139534874318.

rs1395348743 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTCT>- [Show Flanks]
Chromosome:: 11:60213109 (GRCh38)
11:59980582 (GRCh37)
Canonical SPDI:: NC_000011.10:60213107:TATTCT:T
Gene:: MS4A4E (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60213109_60213113del, NC_000011.9:g.59980582_59980586del, XM_011545416.3:c.243_247del, XM_011545416.2:c.243_247del, XM_011545416.1:c.243_247del, XM_017018641.2:c.243_247del, XM_017018641.1:c.243_247del, NM_001393391.1:c.243_247del, XR_007062493.1:n.639_643del, XP_011543718.1:p.Lys81fs, XP_016874130.1:p.Lys81fs, NP_001380320.1:p.Lys81fs

Select item 139367290219.

rs1393672902 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:60229927 (GRCh38)
11:59997400 (GRCh37)
Canonical SPDI:: NC_000011.10:60229926:T:A
Gene:: MS4A4E (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.60229927T>A, NC_000011.9:g.59997400T>A, XM_011545416.3:c.129A>T, XM_011545416.2:c.129A>T, XM_011545416.1:c.129A>T, XM_017018641.2:c.129A>T, XM_017018641.1:c.129A>T, NM_001351235.2:c.56A>T, NM_001351235.1:c.56A>T, NM_001393391.1:c.129A>T, XR_007062493.1:n.325A>T, XP_011543718.1:p.Lys43Asn, XP_016874130.1:p.Lys43Asn, NP_001338164.1:p.Asn19Ile, NP_001380320.1:p.Lys43Asn

Select item 139187089820.

rs1391870898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60204944 (GRCh38)
11:59972417 (GRCh37)
Canonical SPDI:: NC_000011.10:60204943:T:C
Gene:: MS4A4E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.60204944T>C, NC_000011.9:g.59972417T>C, XM_011545416.3:c.605A>G, XM_011545416.2:c.605A>G, XM_011545416.1:c.605A>G, NM_001393391.1:c.605A>G, XP_011543718.1:p.Gln202Arg, NP_001380320.1:p.Gln202Arg

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