SNP Links for Protein (Select 4506835) - SNP

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Links from Protein

Items: 1 to 20 of 139

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Select item 14856510011.

rs1485651001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:34710021 (GRCh38)
9:34710018 (GRCh37)
Canonical SPDI:: NC_000009.12:34710020:A:G
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34710021A>G, NC_000009.11:g.34710018A>G, NM_002989.4:c.46T>C, NM_002989.3:c.46T>C, NP_002980.1:p.Phe16Leu

Select item 14730241112.

rs1473024111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34709639 (GRCh38)
9:34709636 (GRCh37)
Canonical SPDI:: NC_000009.12:34709638:G:A
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34709639G>A, NC_000009.11:g.34709636G>A, NM_002989.4:c.232C>T, NM_002989.3:c.232C>T, NP_002980.1:p.Pro78Ser

Select item 14556542263.

rs1455654226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34709652 (GRCh38)
9:34709649 (GRCh37)
Canonical SPDI:: NC_000009.12:34709651:C:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34709652C>T, NC_000009.11:g.34709649C>T, NM_002989.4:c.219G>A, NM_002989.3:c.219G>A

Select item 14534337794.

rs1453433779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:34709829 (GRCh38)
9:34709826 (GRCh37)
Canonical SPDI:: NC_000009.12:34709828:G:A,NC_000009.12:34709828:G:C,NC_000009.12:34709828:G:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000083/2 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.34709829G>A, NC_000009.12:g.34709829G>C, NC_000009.12:g.34709829G>T, NC_000009.11:g.34709826G>A, NC_000009.11:g.34709826G>C, NC_000009.11:g.34709826G>T, NM_002989.4:c.136C>T, NM_002989.4:c.136C>G, NM_002989.4:c.136C>A, NM_002989.3:c.136C>T, NM_002989.3:c.136C>G, NM_002989.3:c.136C>A, NP_002980.1:p.Arg46Cys, NP_002980.1:p.Arg46Gly, NP_002980.1:p.Arg46Ser

Select item 14510782745.

rs1451078274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34709626 (GRCh38)
9:34709623 (GRCh37)
Canonical SPDI:: NC_000009.12:34709625:C:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,genic_upstream_transcript_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.34709626C>T, NC_000009.11:g.34709623C>T, NM_002989.4:c.245G>A, NM_002989.3:c.245G>A, NP_002980.1:p.Trp82Ter

Select item 14509165036.

rs1450916503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:34709553 (GRCh38)
9:34709550 (GRCh37)
Canonical SPDI:: NC_000009.12:34709552:G:C
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34709553G>C, NC_000009.11:g.34709550G>C, NM_002989.4:c.318C>G, NM_002989.3:c.318C>G, NP_002980.1:p.Asp106Glu

Select item 14376869487.

rs1437686948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34709668 (GRCh38)
9:34709665 (GRCh37)
Canonical SPDI:: NC_000009.12:34709667:T:C
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.34709668T>C, NC_000009.11:g.34709665T>C, NM_002989.4:c.203A>G, NM_002989.3:c.203A>G, NP_002980.1:p.Lys68Arg

Select item 14355242068.

rs1435524206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34710062 (GRCh38)
9:34710059 (GRCh37)
Canonical SPDI:: NC_000009.12:34710061:G:A
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_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_000009.12:g.34710062G>A, NC_000009.11:g.34710059G>A, NM_002989.4:c.5C>T, NM_002989.3:c.5C>T, NP_002980.1:p.Ala2Val

Select item 14353909019.

rs1435390901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:34709838 (GRCh38)
9:34709835 (GRCh37)
Canonical SPDI:: NC_000009.12:34709837:T:G
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000009.12:g.34709838T>G, NC_000009.11:g.34709835T>G, NM_002989.4:c.127A>C, NM_002989.3:c.127A>C, NP_002980.1:p.Lys43Gln

Select item 143535612710.

rs1435356127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:34709892 (GRCh38)
9:34709889 (GRCh37)
Canonical SPDI:: NC_000009.12:34709891:C:A
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000009.12:g.34709892C>A, NC_000009.11:g.34709889C>A, NM_002989.4:c.73G>T, NM_002989.3:c.73G>T, NP_002980.1:p.Asp25Tyr

Select item 143332687811.

rs1433326878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:34709895 (GRCh38)
9:34709892 (GRCh37)
Canonical SPDI:: NC_000009.12:34709894:T:G
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34709895T>G, NC_000009.11:g.34709892T>G, NM_002989.4:c.70A>C, NM_002989.3:c.70A>C, NP_002980.1:p.Ser24Arg

Select item 143316616512.

rs1433166165 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34709589 (GRCh38)
9:34709586 (GRCh37)
Canonical SPDI:: NC_000009.12:34709588:T:C
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34709589T>C, NC_000009.11:g.34709586T>C, NM_002989.4:c.282A>G, NM_002989.3:c.282A>G

Select item 142530729213.

rs1425307292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34709514 (GRCh38)
9:34709511 (GRCh37)
Canonical SPDI:: NC_000009.12:34709513:G:A
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.34709514G>A, NC_000009.11:g.34709511G>A, NM_002989.4:c.357C>T, NM_002989.3:c.357C>T

Select item 141327653914.

rs1413276539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34710050 (GRCh38)
9:34710047 (GRCh37)
Canonical SPDI:: NC_000009.12:34710049:G:A
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000009.12:g.34710050G>A, NC_000009.11:g.34710047G>A, NM_002989.4:c.17C>T, NM_002989.3:c.17C>T, NP_002980.1:p.Ala6Val

Select item 140839946915.

rs1408399469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34709581 (GRCh38)
9:34709578 (GRCh37)
Canonical SPDI:: NC_000009.12:34709580:T:C
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34709581T>C, NC_000009.11:g.34709578T>C, NM_002989.4:c.290A>G, NM_002989.3:c.290A>G, NP_002980.1:p.Gln97Arg

Select item 139144841916.

rs1391448419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:34709587 (GRCh38)
9:34709584 (GRCh37)
Canonical SPDI:: NC_000009.12:34709586:G:A,NC_000009.12:34709586:G:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.34709587G>A, NC_000009.12:g.34709587G>T, NC_000009.11:g.34709584G>A, NC_000009.11:g.34709584G>T, NM_002989.4:c.284C>T, NM_002989.4:c.284C>A, NM_002989.3:c.284C>T, NM_002989.3:c.284C>A, NP_002980.1:p.Ser95Phe, NP_002980.1:p.Ser95Tyr

Select item 139093417117.

rs1390934171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:34709651 (GRCh38)
9:34709648 (GRCh37)
Canonical SPDI:: NC_000009.12:34709650:G:A,NC_000009.12:34709650:G:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34709651G>A, NC_000009.12:g.34709651G>T, NC_000009.11:g.34709648G>A, NC_000009.11:g.34709648G>T, NM_002989.4:c.220C>T, NM_002989.4:c.220C>A, NM_002989.3:c.220C>T, NM_002989.3:c.220C>A, NP_002980.1:p.Leu74Ile

Select item 137170913718.

rs1371709137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:34709848 (GRCh38)
9:34709845 (GRCh37)
Canonical SPDI:: NC_000009.12:34709847:C:A,NC_000009.12:34709847:C:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000009.12:g.34709848C>A, NC_000009.12:g.34709848C>T, NC_000009.11:g.34709845C>A, NC_000009.11:g.34709845C>T, NM_002989.4:c.117G>T, NM_002989.4:c.117G>A, NM_002989.3:c.117G>T, NM_002989.3:c.117G>A, NP_002980.1:p.Lys39Asn

Select item 137115695119.

rs1371156951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:34709786 (GRCh38)
9:34709783 (GRCh37)
Canonical SPDI:: NC_000009.12:34709785:G:A,NC_000009.12:34709785:G:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.34709786G>A, NC_000009.12:g.34709786G>T, NC_000009.11:g.34709783G>A, NC_000009.11:g.34709783G>T, NM_002989.4:c.179C>T, NM_002989.4:c.179C>A, NM_002989.3:c.179C>T, NM_002989.3:c.179C>A, NP_002980.1:p.Pro60Leu, NP_002980.1:p.Pro60Gln

Select item 137094416620.

rs1370944166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:34709416 (GRCh38)
9:34709413 (GRCh37)
Canonical SPDI:: NC_000009.12:34709415:G:T
Gene:: CCL21 (Varview), PHF24 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,stop_gained,intron_variant
HGVS:: NC_000009.12:g.34709416G>T, NC_000009.11:g.34709413G>T, NM_002989.4:c.383C>A, NM_002989.3:c.383C>A, NP_002980.1:p.Ser128Ter

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