SNP Links for Protein (Select 47717131) - SNP

Links from Protein

Items: 1 to 20 of 730

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Select item 14908627441.

rs1490862744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136371342 (GRCh38)
9:139265794 (GRCh37)
Canonical SPDI:: NC_000009.12:136371341:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.136371342C>T, NC_000009.11:g.139265794C>T, NG_021197.1:g.7340G>A, NM_052813.5:c.304G>A, NM_052813.4:c.304G>A, NM_052814.4:c.304G>A, NM_052814.3:c.304G>A, NM_022352.2:c.304G>A, NM_022352.1:c.304G>A, NP_434700.2:p.Val102Ile, NP_434701.1:p.Val102Ile

Select item 14899249142.

rs1489924914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:136364487 (GRCh38)
9:139258939 (GRCh37)
Canonical SPDI:: NC_000009.12:136364486:G:A,NC_000009.12:136364486:G:C
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136364487G>A, NC_000009.12:g.136364487G>C, NC_000009.11:g.139258939G>A, NC_000009.11:g.139258939G>C, NG_021197.1:g.14195C>T, NG_021197.1:g.14195C>G, NM_052813.5:c.1507C>T, NM_052813.5:c.1507C>G, NM_052813.4:c.1507C>T, NM_052813.4:c.1507C>G, NM_022352.2:c.*554C>T, NM_022352.2:c.*554C>G, NM_022352.1:c.*554C>T, NM_022352.1:c.*554C>G, NP_434700.2:p.Arg503Cys, NP_434700.2:p.Arg503Gly

Select item 14890245883.

rs1489024588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:136365216 (GRCh38)
9:139259668 (GRCh37)
Canonical SPDI:: NC_000009.12:136365215:G:A,NC_000009.12:136365215:G:T
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136365216G>A, NC_000009.12:g.136365216G>T, NC_000009.11:g.139259668G>A, NC_000009.11:g.139259668G>T, NG_021197.1:g.13466C>T, NG_021197.1:g.13466C>A, NM_052813.5:c.1359C>T, NM_052813.5:c.1359C>A, NM_052813.4:c.1359C>T, NM_052813.4:c.1359C>A, NM_052814.4:c.1359C>T, NM_052814.4:c.1359C>A, NM_052814.3:c.1359C>T, NM_052814.3:c.1359C>A, NM_022352.2:c.*406C>T, NM_022352.2:c.*406C>A, NM_022352.1:c.*406C>T, NM_022352.1:c.*406C>A

Select item 14885460544.

rs1488546054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:136371351 (GRCh38)
9:139265803 (GRCh37)
Canonical SPDI:: NC_000009.12:136371350:G:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136371351G>T, NC_000009.11:g.139265803G>T, NG_021197.1:g.7331C>A, NM_052813.5:c.295C>A, NM_052813.4:c.295C>A, NM_052814.4:c.295C>A, NM_052814.3:c.295C>A, NM_022352.2:c.295C>A, NM_022352.1:c.295C>A, NP_434700.2:p.Pro99Thr, NP_434701.1:p.Pro99Thr

Select item 14876680675.

rs1487668067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136371006 (GRCh38)
9:139265458 (GRCh37)
Canonical SPDI:: NC_000009.12:136371005:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136371006C>T, NC_000009.11:g.139265458C>T, NG_021197.1:g.7676G>A, NM_052813.5:c.462G>A, NM_052813.4:c.462G>A, NM_052814.4:c.462G>A, NM_052814.3:c.462G>A, NM_022352.2:c.462G>A, NM_022352.1:c.462G>A

Select item 14870661016.

rs1487066101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136367741 (GRCh38)
9:139262193 (GRCh37)
Canonical SPDI:: NC_000009.12:136367740:C:A
Gene:: CARD9 (Varview), LOC124902309 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.136367741C>A, NC_000009.11:g.139262193C>A, NG_021197.1:g.10941G>T, NM_052813.5:c.1165G>T, NM_052813.4:c.1165G>T, NM_052814.4:c.1165G>T, NM_052814.3:c.1165G>T, NM_022352.2:c.*212G>T, XR_007061863.1:n.202C>A, NM_022352.1:c.*212G>T, NP_434700.2:p.Gly389Cys, NP_434701.1:p.Gly389Cys

Select item 14840420117.

rs1484042011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136370581 (GRCh38)
9:139265033 (GRCh37)
Canonical SPDI:: NC_000009.12:136370580:G:A
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.136370581G>A, NC_000009.11:g.139265033G>A, NG_021197.1:g.8101C>T, NM_052813.5:c.748C>T, NM_052813.4:c.748C>T, NM_052814.4:c.748C>T, NM_052814.3:c.748C>T, NM_022352.2:c.748C>T, NM_022352.1:c.748C>T

Select item 14824742098.

rs1482474209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136371093 (GRCh38)
9:139265545 (GRCh37)
Canonical SPDI:: NC_000009.12:136371092:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136371093C>T, NC_000009.11:g.139265545C>T, NG_021197.1:g.7589G>A, NM_052813.5:c.375G>A, NM_052813.4:c.375G>A, NM_052814.4:c.375G>A, NM_052814.3:c.375G>A, NM_022352.2:c.375G>A, NM_022352.1:c.375G>A

Select item 14821330339.

rs1482133033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136371917 (GRCh38)
9:139266369 (GRCh37)
Canonical SPDI:: NC_000009.12:136371916:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136371917C>T, NC_000009.11:g.139266369C>T, NG_021197.1:g.6765G>A, NM_052813.5:c.162G>A, NM_052813.4:c.162G>A, NM_052814.4:c.162G>A, NM_052814.3:c.162G>A, NM_022352.2:c.162G>A, NM_022352.1:c.162G>A

Select item 148001709810.

rs1480017098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:136370696 (GRCh38)
9:139265148 (GRCh37)
Canonical SPDI:: NC_000009.12:136370695:G:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.136370696G>T, NC_000009.11:g.139265148G>T, NG_021197.1:g.7986C>A, NM_052813.5:c.633C>A, NM_052813.4:c.633C>A, NM_052814.4:c.633C>A, NM_052814.3:c.633C>A, NM_022352.2:c.633C>A, NM_022352.1:c.633C>A, NP_434700.2:p.Asp211Glu, NP_434701.1:p.Asp211Glu

Select item 147638083211.

rs1476380832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136370536 (GRCh38)
9:139264988 (GRCh37)
Canonical SPDI:: NC_000009.12:136370535:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.136370536C>T, NC_000009.11:g.139264988C>T, NG_021197.1:g.8146G>A, NM_052813.5:c.793G>A, NM_052813.4:c.793G>A, NM_052814.4:c.793G>A, NM_052814.3:c.793G>A, NM_022352.2:c.793G>A, NM_022352.1:c.793G>A, NP_434700.2:p.Glu265Lys, NP_434701.1:p.Glu265Lys

Select item 147591200712.

rs1475912007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136369758 (GRCh38)
9:139264210 (GRCh37)
Canonical SPDI:: NC_000009.12:136369757:G:A
Gene:: CARD9 (Varview), LOC124902309 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
HGVS:: NC_000009.12:g.136369758G>A, NC_000009.11:g.139264210G>A, NG_021197.1:g.8924C>T, NM_052813.5:c.1069C>T, NM_052813.4:c.1069C>T, NM_052814.4:c.1069C>T, NM_052814.3:c.1069C>T, NM_022352.2:c.1069C>T, NM_022352.1:c.1069C>T, NP_434700.2:p.Arg357Trp, NP_434701.1:p.Arg357Trp

Select item 147505345013.

rs1475053450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136364536 (GRCh38)
9:139258988 (GRCh37)
Canonical SPDI:: NC_000009.12:136364535:C:T
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136364536C>T, NC_000009.11:g.139258988C>T, NG_021197.1:g.14146G>A, NM_052813.5:c.1458G>A, NM_052813.4:c.1458G>A, NM_022352.2:c.*505G>A, NM_022352.1:c.*505G>A

Select item 147441326014.

rs1474413260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136370968 (GRCh38)
9:139265420 (GRCh37)
Canonical SPDI:: NC_000009.12:136370967:T:C
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136370968T>C, NC_000009.11:g.139265420T>C, NG_021197.1:g.7714A>G, NM_052813.5:c.500A>G, NM_052813.4:c.500A>G, NM_052814.4:c.500A>G, NM_052814.3:c.500A>G, NM_022352.2:c.500A>G, NM_022352.1:c.500A>G, NP_434700.2:p.Glu167Gly, NP_434701.1:p.Glu167Gly

Select item 147394209515.

rs1473942095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136370530 (GRCh38)
9:139264982 (GRCh37)
Canonical SPDI:: NC_000009.12:136370529:A:G
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136370530A>G, NC_000009.11:g.139264982A>G, NG_021197.1:g.8152T>C, NM_052813.5:c.799T>C, NM_052813.4:c.799T>C, NM_052814.4:c.799T>C, NM_052814.3:c.799T>C, NM_022352.2:c.799T>C, NM_022352.1:c.799T>C, NP_434700.2:p.Ser267Pro, NP_434701.1:p.Ser267Pro

Select item 147230548616.

rs1472305486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136366839 (GRCh38)
9:139261291 (GRCh37)
Canonical SPDI:: NC_000009.12:136366838:G:C
Gene:: CARD9 (Varview), LOC124902309 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136366839G>C, NC_000009.11:g.139261291G>C, NG_021197.1:g.11843C>G, NM_052813.5:c.1318C>G, NM_052813.4:c.1318C>G, NM_052814.4:c.1318C>G, NM_052814.3:c.1318C>G, NM_022352.2:c.*365C>G, NM_022352.1:c.*365C>G, NP_434700.2:p.Leu440Val, NP_434701.1:p.Leu440Val

Select item 147200756617.

rs1472007566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136370667 (GRCh38)
9:139265119 (GRCh37)
Canonical SPDI:: NC_000009.12:136370666:T:C
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.136370667T>C, NC_000009.11:g.139265119T>C, NG_021197.1:g.8015A>G, NM_052813.5:c.662A>G, NM_052813.4:c.662A>G, NM_052814.4:c.662A>G, NM_052814.3:c.662A>G, NM_022352.2:c.662A>G, NM_022352.1:c.662A>G, NP_434700.2:p.Glu221Gly, NP_434701.1:p.Glu221Gly

Select item 146988235918.

rs1469882359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136364491 (GRCh38)
9:139258943 (GRCh37)
Canonical SPDI:: NC_000009.12:136364490:G:A
Gene:: CARD9 (Varview), DNLZ (Varview), LOC124902309 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.136364491G>A, NC_000009.11:g.139258943G>A, NG_021197.1:g.14191C>T, NM_052813.5:c.1503C>T, NM_052813.4:c.1503C>T, NM_022352.2:c.*550C>T, NM_022352.1:c.*550C>T

Select item 146850200919.

rs1468502009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136370359 (GRCh38)
9:139264811 (GRCh37)
Canonical SPDI:: NC_000009.12:136370358:C:T
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000057/8 (GnomAD)
HGVS:: NC_000009.12:g.136370359C>T, NC_000009.11:g.139264811C>T, NG_021197.1:g.8323G>A, NM_052813.5:c.886G>A, NM_052813.4:c.886G>A, NM_052814.4:c.886G>A, NM_052814.3:c.886G>A, NM_022352.2:c.886G>A, NM_022352.1:c.886G>A, NP_434700.2:p.Glu296Lys, NP_434701.1:p.Glu296Lys

Select item 146750951720.

rs1467509517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136370324 (GRCh38)
9:139264776 (GRCh37)
Canonical SPDI:: NC_000009.12:136370323:G:C
Gene:: CARD9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136370324G>C, NC_000009.11:g.139264776G>C, NG_021197.1:g.8358C>G, NM_052813.5:c.921C>G, NM_052813.4:c.921C>G, NM_052814.4:c.921C>G, NM_052814.3:c.921C>G, NM_022352.2:c.921C>G, NM_022352.1:c.921C>G, NP_434700.2:p.Asp307Glu, NP_434701.1:p.Asp307Glu

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