SNP Links for Protein (Select 4885179) - SNP

Links from Protein

Items: 1 to 20 of 105

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Select item 14840749991.

rs1484074999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7016724 (GRCh38)
8:6874246 (GRCh37)
Canonical SPDI:: NC_000008.11:7016723:C:T
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7016724C>T, NC_000008.10:g.6874246C>T, NW_018654717.1:g.411848C>T, NM_005217.4:c.127G>A, NM_005217.3:c.127G>A, XM_011534741.3:c.148G>A, XM_011534741.2:c.148G>A, XM_011534741.1:c.148G>A, XR_007060791.1:n.405C>T, XR_007060790.1:n.252C>T, XR_007069075.1:n.252C>T, NP_005208.1:p.Val43Met, XP_011533043.1:p.Val50Met

Select item 14807557692.

rs1480755769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7016773 (GRCh38)
8:6874295 (GRCh37)
Canonical SPDI:: NC_000008.11:7016772:A:G
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.7016773A>G, NC_000008.10:g.6874295A>G, NW_018654717.1:g.411897A>G, NM_005217.4:c.78T>C, NM_005217.3:c.78T>C, XM_011534741.3:c.99T>C, XM_011534741.2:c.99T>C, XM_011534741.1:c.99T>C

Select item 14748464333.

rs1474846433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:7016714 (GRCh38)
8:6874236 (GRCh37)
Canonical SPDI:: NC_000008.11:7016713:G:T
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7016714G>T, NC_000008.10:g.6874236G>T, NW_018654717.1:g.411838G>T, NM_005217.4:c.137C>A, NM_005217.3:c.137C>A, XM_011534741.3:c.158C>A, XM_011534741.2:c.158C>A, XM_011534741.1:c.158C>A, XR_007060791.1:n.395G>T, XR_007060790.1:n.242G>T, XR_007069075.1:n.242G>T, NP_005208.1:p.Ser46Tyr, XP_011533043.1:p.Ser53Tyr

Select item 14635698544.

rs1463569854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:7016010 (GRCh38)
8:6873532 (GRCh37)
Canonical SPDI:: NC_000008.11:7016009:G:A,NC_000008.11:7016009:G:C
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000008/2 (TOPMED)
A=0.000022/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7016010G>A, NC_000008.11:g.7016010G>C, NC_000008.10:g.6873532G>A, NC_000008.10:g.6873532G>C, NW_018654717.1:g.411130G>A, NW_018654717.1:g.411130G>C, NM_005217.4:c.265C>T, NM_005217.4:c.265C>G, NM_005217.3:c.265C>T, NM_005217.3:c.265C>G, XM_011534741.3:c.286C>T, XM_011534741.3:c.286C>G, XM_011534741.2:c.286C>T, XM_011534741.2:c.286C>G, XM_011534741.1:c.286C>T, XM_011534741.1:c.286C>G, NP_005208.1:p.Leu89Phe, NP_005208.1:p.Leu89Val, XP_011533043.1:p.Leu96Phe, XP_011533043.1:p.Leu96Val

Select item 14569747215.

rs1456974721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:7016098 (GRCh38)
8:6873620 (GRCh37)
Canonical SPDI:: NC_000008.11:7016097:G:A,NC_000008.11:7016097:G:C
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.7016098G>A, NC_000008.11:g.7016098G>C, NC_000008.10:g.6873620G>A, NC_000008.10:g.6873620G>C, NW_018654717.1:g.411218G>A, NW_018654717.1:g.411218G>C, NM_005217.4:c.177C>T, NM_005217.4:c.177C>G, NM_005217.3:c.177C>T, NM_005217.3:c.177C>G, XM_011534741.3:c.198C>T, XM_011534741.3:c.198C>G, XM_011534741.2:c.198C>T, XM_011534741.2:c.198C>G, XM_011534741.1:c.198C>T, XM_011534741.1:c.198C>G

Select item 14530447546.

rs1453044754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:7016002 (GRCh38)
8:6873524 (GRCh37)
Canonical SPDI:: NC_000008.11:7016001:T:C,NC_000008.11:7016001:T:G
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
G=0.00011/2 (TOMMO)
HGVS:: NC_000008.11:g.7016002T>C, NC_000008.11:g.7016002T>G, NC_000008.10:g.6873524T>C, NC_000008.10:g.6873524T>G, NW_018654717.1:g.411122T>C, NW_018654717.1:g.411122T>G, NM_005217.4:c.273A>G, NM_005217.4:c.273A>C, NM_005217.3:c.273A>G, NM_005217.3:c.273A>C, XM_011534741.3:c.294A>G, XM_011534741.3:c.294A>C, XM_011534741.2:c.294A>G, XM_011534741.2:c.294A>C, XM_011534741.1:c.294A>G, XM_011534741.1:c.294A>C

Select item 14408096707.

rs1440809670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7016819 (GRCh38)
8:6874341 (GRCh37)
Canonical SPDI:: NC_000008.11:7016818:A:G
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.7016819A>G, NC_000008.10:g.6874341A>G, NW_018654717.1:g.411943A>G, NM_005217.4:c.32T>C, NM_005217.3:c.32T>C, XM_011534741.3:c.53T>C, XM_011534741.2:c.53T>C, XM_011534741.1:c.53T>C, NP_005208.1:p.Leu11Pro, XP_011533043.1:p.Leu18Pro

Select item 14351072748.

rs1435107274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7016020 (GRCh38)
8:6873542 (GRCh37)
Canonical SPDI:: NC_000008.11:7016019:G:A
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7016020G>A, NC_000008.10:g.6873542G>A, NW_018654717.1:g.411140G>A, NM_005217.4:c.255C>T, NM_005217.3:c.255C>T, XM_011534741.3:c.276C>T, XM_011534741.2:c.276C>T, XM_011534741.1:c.276C>T

Select item 14338567439.

rs1433856743 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:7016078 (GRCh38)
8:6873600 (GRCh37)
Canonical SPDI:: NC_000008.11:7016077:C:
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7016078del, NC_000008.10:g.6873600del, NW_018654717.1:g.411198del, NM_005217.4:c.197del, NM_005217.3:c.197del, XM_011534741.3:c.218del, XM_011534741.2:c.218del, XM_011534741.1:c.218del, NP_005208.1:p.Cys66fs, XP_011533043.1:p.Cys73fs

Select item 142823783510.

rs1428237835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:7016765 (GRCh38)
8:6874287 (GRCh37)
Canonical SPDI:: NC_000008.11:7016764:A:T
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7016765A>T, NC_000008.10:g.6874287A>T, NW_018654717.1:g.411889A>T, NM_005217.4:c.86T>A, NM_005217.3:c.86T>A, XM_011534741.3:c.107T>A, XM_011534741.2:c.107T>A, XM_011534741.1:c.107T>A, NP_005208.1:p.Val29Asp, XP_011533043.1:p.Val36Asp

Select item 142188059011.

rs1421880590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7016720 (GRCh38)
8:6874242 (GRCh37)
Canonical SPDI:: NC_000008.11:7016719:A:C
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000008.11:g.7016720A>C, NC_000008.10:g.6874242A>C, NW_018654717.1:g.411844A>C, NM_005217.4:c.131T>G, NM_005217.3:c.131T>G, XM_011534741.3:c.152T>G, XM_011534741.2:c.152T>G, XM_011534741.1:c.152T>G, XR_007060791.1:n.401A>C, XR_007060790.1:n.248A>C, XR_007069075.1:n.248A>C, NP_005208.1:p.Val44Gly, XP_011533043.1:p.Val51Gly

Select item 141720737712.

rs1417207377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7016778 (GRCh38)
8:6874300 (GRCh37)
Canonical SPDI:: NC_000008.11:7016777:T:C
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,missense_variant,downstream_transcript_variant
HGVS:: NC_000008.11:g.7016778T>C, NC_000008.10:g.6874300T>C, NW_018654717.1:g.411902T>C, NM_005217.4:c.73A>G, NM_005217.3:c.73A>G, XM_011534741.3:c.94A>G, XM_011534741.2:c.94A>G, XM_011534741.1:c.94A>G, NP_005208.1:p.Arg25Gly, XP_011533043.1:p.Arg32Gly

Select item 141413890613.

rs1414138906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:7016034 (GRCh38)
8:6873556 (GRCh37)
Canonical SPDI:: NC_000008.11:7016033:C:A
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7016034C>A, NC_000008.10:g.6873556C>A, NW_018654717.1:g.411154C>A, NM_005217.4:c.241G>T, NM_005217.3:c.241G>T, XM_011534741.3:c.262G>T, XM_011534741.2:c.262G>T, XM_011534741.1:c.262G>T, NP_005208.1:p.Gly81Ter, XP_011533043.1:p.Gly88Ter

Select item 141251113114.

rs1412511131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:7016741 (GRCh38)
8:6874263 (GRCh37)
Canonical SPDI:: NC_000008.11:7016740:G:T
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00011/2 (TOMMO)
HGVS:: NC_000008.11:g.7016741G>T, NC_000008.10:g.6874263G>T, NW_018654717.1:g.411865G>T, NM_005217.4:c.110C>A, NM_005217.3:c.110C>A, XM_011534741.3:c.131C>A, XM_011534741.2:c.131C>A, XM_011534741.1:c.131C>A, XR_007060791.1:n.422G>T, XR_007060790.1:n.269G>T, XR_007069075.1:n.269G>T, NP_005208.1:p.Ala37Glu, XP_011533043.1:p.Ala44Glu

Select item 141214454315.

rs1412144543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7016739 (GRCh38)
8:6874261 (GRCh37)
Canonical SPDI:: NC_000008.11:7016738:C:G
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7016739C>G, NC_000008.10:g.6874261C>G, NW_018654717.1:g.411863C>G, NM_005217.4:c.112G>C, NM_005217.3:c.112G>C, XM_011534741.3:c.133G>C, XM_011534741.2:c.133G>C, XM_011534741.1:c.133G>C, XR_007060791.1:n.420C>G, XR_007060790.1:n.267C>G, XR_007069075.1:n.267C>G, NP_005208.1:p.Ala38Pro, XP_011533043.1:p.Ala45Pro

Select item 140677077116.

rs1406770771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7016007 (GRCh38)
8:6873529 (GRCh37)
Canonical SPDI:: NC_000008.11:7016006:A:G
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7016007A>G, NC_000008.10:g.6873529A>G, NW_018654717.1:g.411127A>G, NM_005217.4:c.268T>C, NM_005217.3:c.268T>C, XM_011534741.3:c.289T>C, XM_011534741.2:c.289T>C, XM_011534741.1:c.289T>C, NP_005208.1:p.Trp90Arg, XP_011533043.1:p.Trp97Arg

Select item 140207888717.

rs1402078887 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:7016691 (GRCh38)
8:6874213 (GRCh37)
Canonical SPDI:: NC_000008.11:7016690:C:A,NC_000008.11:7016690:C:T
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7016691C>A, NC_000008.11:g.7016691C>T, NC_000008.10:g.6874213C>A, NC_000008.10:g.6874213C>T, NW_018654717.1:g.411815C>A, NW_018654717.1:g.411815C>T, NM_005217.4:c.160G>T, NM_005217.4:c.160G>A, NM_005217.3:c.160G>T, NM_005217.3:c.160G>A, XM_011534741.3:c.181G>T, XM_011534741.3:c.181G>A, XM_011534741.2:c.181G>T, XM_011534741.2:c.181G>A, XM_011534741.1:c.181G>T, XM_011534741.1:c.181G>A, XR_007060791.1:n.372C>A, XR_007060791.1:n.372C>T, XR_007060790.1:n.219C>A, XR_007060790.1:n.219C>T, XR_007069075.1:n.219C>A, XR_007069075.1:n.219C>T, NP_005208.1:p.Ala54Ser, NP_005208.1:p.Ala54Thr, XP_011533043.1:p.Ala61Ser, XP_011533043.1:p.Ala61Thr

Select item 139603011118.

rs1396030111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:7016017 (GRCh38)
8:6873539 (GRCh37)
Canonical SPDI:: NC_000008.11:7016016:C:A
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7016017C>A, NC_000008.10:g.6873539C>A, NW_018654717.1:g.411137C>A, NM_005217.4:c.258G>T, NM_005217.3:c.258G>T, XM_011534741.3:c.279G>T, XM_011534741.2:c.279G>T, XM_011534741.1:c.279G>T, NP_005208.1:p.Gln86His, XP_011533043.1:p.Gln93His

Select item 139003004919.

rs1390030049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:7016687 (GRCh38)
8:6874209 (GRCh37)
Canonical SPDI:: NC_000008.11:7016686:G:T
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.7016687G>T, NC_000008.10:g.6874209G>T, NW_018654717.1:g.411811G>T, NM_005217.4:c.164C>A, NM_005217.3:c.164C>A, XM_011534741.3:c.185C>A, XM_011534741.2:c.185C>A, XM_011534741.1:c.185C>A, XR_007060791.1:n.368G>T, XR_007060790.1:n.215G>T, XR_007069075.1:n.215G>T, NP_005208.1:p.Pro55Gln, XP_011533043.1:p.Pro62Gln

Select item 138696602020.

rs1386966020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:7016079 (GRCh38)
8:6873601 (GRCh37)
Canonical SPDI:: NC_000008.11:7016078:A:T
Gene:: DEFA3 (Varview), LOC124901875 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.7016079A>T, NC_000008.10:g.6873601A>T, NW_018654717.1:g.411199A>T, NM_005217.4:c.196T>A, NM_005217.3:c.196T>A, XM_011534741.3:c.217T>A, XM_011534741.2:c.217T>A, XM_011534741.1:c.217T>A, NP_005208.1:p.Cys66Ser, XP_011533043.1:p.Cys73Ser

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