SNP Links for Protein (Select 18254464) - SNP

Links from Protein

Items: 1 to 20 of 152

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Select item 14691496261.

rs1469149626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14028240 (GRCh38)
19:14139052 (GRCh37)
Canonical SPDI:: NC_000019.10:14028239:A:G
Gene:: RLN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14028240A>G, NC_000019.9:g.14139052A>G, NW_021160022.1:g.240081A>G, NM_080864.4:c.36A>G, NM_080864.3:c.36A>G, NM_080864.2:c.36A>G, NM_001311197.2:c.36A>G, NM_001311197.1:c.36A>G

Select item 14589510942.

rs1458951094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14030751 (GRCh38)
19:14141563 (GRCh37)
Canonical SPDI:: NC_000019.10:14030750:G:A
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14030751G>A, NC_000019.9:g.14141563G>A, NW_021160022.1:g.242592G>A, NM_080864.4:c.232G>A, NM_080864.3:c.232G>A, NM_080864.2:c.232G>A, NM_001311197.2:c.*14G>A, NM_001311197.1:c.*14G>A, NP_543140.1:p.Ala78Thr

Select item 14511183303.

rs1451118330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14030794 (GRCh38)
19:14141606 (GRCh37)
Canonical SPDI:: NC_000019.10:14030793:C:T
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.14030794C>T, NC_000019.9:g.14141606C>T, NW_021160022.1:g.242635C>T, NM_080864.4:c.275C>T, NM_080864.3:c.275C>T, NM_080864.2:c.275C>T, NM_001311197.2:c.*57C>T, NM_001311197.1:c.*57C>T, NP_543140.1:p.Ala92Val

Select item 14443911274.

rs1444391127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14028231 (GRCh38)
19:14139043 (GRCh37)
Canonical SPDI:: NC_000019.10:14028230:C:T
Gene:: RLN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14028231C>T, NC_000019.9:g.14139043C>T, NW_021160022.1:g.240072C>T, NM_080864.4:c.27C>T, NM_080864.3:c.27C>T, NM_080864.2:c.27C>T, NM_001311197.2:c.27C>T, NM_001311197.1:c.27C>T

Select item 14351113045.

rs1435111304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14028372 (GRCh38)
19:14139184 (GRCh37)
Canonical SPDI:: NC_000019.10:14028371:C:T
Gene:: RLN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.14028372C>T, NC_000019.9:g.14139184C>T, NW_021160022.1:g.240213C>T, NM_080864.4:c.168C>T, NM_080864.3:c.168C>T, NM_080864.2:c.168C>T, NM_001311197.2:c.168C>T, NM_001311197.1:c.168C>T

Select item 14255536746.

rs1425553674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:14030806 (GRCh38)
19:14141618 (GRCh37)
Canonical SPDI:: NC_000019.10:14030805:C:A,NC_000019.10:14030805:C:T
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14030806C>A, NC_000019.10:g.14030806C>T, NC_000019.9:g.14141618C>A, NC_000019.9:g.14141618C>T, NW_021160022.1:g.242647C>A, NW_021160022.1:g.242647C>T, NM_080864.4:c.287C>A, NM_080864.4:c.287C>T, NM_080864.3:c.287C>A, NM_080864.3:c.287C>T, NM_080864.2:c.287C>A, NM_080864.2:c.287C>T, NM_001311197.2:c.*69C>A, NM_001311197.2:c.*69C>T, NM_001311197.1:c.*69C>A, NM_001311197.1:c.*69C>T, NP_543140.1:p.Ser96Ter, NP_543140.1:p.Ser96Leu

Select item 14171157367.

rs1417115736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14030877 (GRCh38)
19:14141689 (GRCh37)
Canonical SPDI:: NC_000019.10:14030876:G:A
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14030877G>A, NC_000019.9:g.14141689G>A, NW_021160022.1:g.242718G>A, NM_080864.4:c.358G>A, NM_080864.3:c.358G>A, NM_080864.2:c.358G>A, NM_001311197.2:c.*140G>A, NM_001311197.1:c.*140G>A, NP_543140.1:p.Val120Ile

Select item 14104936868.

rs1410493686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:14030918 (GRCh38)
19:14141730 (GRCh37)
Canonical SPDI:: NC_000019.10:14030917:T:C
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14030918T>C, NC_000019.9:g.14141730T>C, NW_021160022.1:g.242759T>C, NM_080864.4:c.399T>C, NM_080864.3:c.399T>C, NM_080864.2:c.399T>C, NM_001311197.2:c.*181T>C, NM_001311197.1:c.*181T>C

Select item 13998248069.

rs1399824806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:14030888 (GRCh38)
19:14141700 (GRCh37)
Canonical SPDI:: NC_000019.10:14030887:C:A,NC_000019.10:14030887:C:T
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14030888C>A, NC_000019.10:g.14030888C>T, NC_000019.9:g.14141700C>A, NC_000019.9:g.14141700C>T, NW_021160022.1:g.242729C>A, NW_021160022.1:g.242729C>T, NM_080864.4:c.369C>A, NM_080864.4:c.369C>T, NM_080864.3:c.369C>A, NM_080864.3:c.369C>T, NM_080864.2:c.369C>A, NM_080864.2:c.369C>T, NM_001311197.2:c.*151C>A, NM_001311197.2:c.*151C>T, NM_001311197.1:c.*151C>A, NM_001311197.1:c.*151C>T

Select item 139138828710.

rs1391388287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14028329 (GRCh38)
19:14139141 (GRCh37)
Canonical SPDI:: NC_000019.10:14028328:C:T
Gene:: RLN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14028329C>T, NC_000019.9:g.14139141C>T, NW_021160022.1:g.240170C>T, NM_080864.4:c.125C>T, NM_080864.3:c.125C>T, NM_080864.2:c.125C>T, NM_001311197.2:c.125C>T, NM_001311197.1:c.125C>T, NP_543140.1:p.Ala42Val, NP_001298126.1:p.Ala42Val

Select item 138052854211.

rs1380528542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14030832 (GRCh38)
19:14141644 (GRCh37)
Canonical SPDI:: NC_000019.10:14030831:C:T
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14030832C>T, NC_000019.9:g.14141644C>T, NW_021160022.1:g.242673C>T, NM_080864.4:c.313C>T, NM_080864.3:c.313C>T, NM_080864.2:c.313C>T, NM_001311197.2:c.*95C>T, NM_001311197.1:c.*95C>T, NP_543140.1:p.Pro105Ser

Select item 136978023612.

rs1369780236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14030757 (GRCh38)
19:14141569 (GRCh37)
Canonical SPDI:: NC_000019.10:14030756:G:A
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000019.10:g.14030757G>A, NC_000019.9:g.14141569G>A, NW_021160022.1:g.242598G>A, NM_080864.4:c.238G>A, NM_080864.3:c.238G>A, NM_080864.2:c.238G>A, NM_001311197.2:c.*20G>A, NM_001311197.1:c.*20G>A, NP_543140.1:p.Glu80Lys

Select item 136921145513.

rs1369211455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14028326 (GRCh38)
19:14139138 (GRCh37)
Canonical SPDI:: NC_000019.10:14028325:G:A
Gene:: RLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14028326G>A, NC_000019.9:g.14139138G>A, NW_021160022.1:g.240167G>A, NM_080864.4:c.122G>A, NM_080864.3:c.122G>A, NM_080864.2:c.122G>A, NM_001311197.2:c.122G>A, NM_001311197.1:c.122G>A, NP_543140.1:p.Arg41Gln, NP_001298126.1:p.Arg41Gln

Select item 136443945714.

rs1364439457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:14030768 (GRCh38)
19:14141580 (GRCh37)
Canonical SPDI:: NC_000019.10:14030767:G:C
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14030768G>C, NC_000019.9:g.14141580G>C, NW_021160022.1:g.242609G>C, NM_080864.4:c.249G>C, NM_080864.3:c.249G>C, NM_080864.2:c.249G>C, NM_001311197.2:c.*31G>C, NM_001311197.1:c.*31G>C, NP_543140.1:p.Glu83Asp

Select item 135043240615.

rs1350432406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14030745 (GRCh38)
19:14141557 (GRCh37)
Canonical SPDI:: NC_000019.10:14030744:A:G
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14030745A>G, NC_000019.9:g.14141557A>G, NW_021160022.1:g.242586A>G, NM_080864.4:c.226A>G, NM_080864.3:c.226A>G, NM_080864.2:c.226A>G, NM_001311197.2:c.*8A>G, NM_001311197.1:c.*8A>G, NP_543140.1:p.Ser76Gly

Select item 134309241116.

rs1343092411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14030827 (GRCh38)
19:14141639 (GRCh37)
Canonical SPDI:: NC_000019.10:14030826:G:A
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14030827G>A, NC_000019.9:g.14141639G>A, NW_021160022.1:g.242668G>A, NM_080864.4:c.308G>A, NM_080864.3:c.308G>A, NM_080864.2:c.308G>A, NM_001311197.2:c.*90G>A, NM_001311197.1:c.*90G>A, NP_543140.1:p.Gly103Glu

Select item 133679414017.

rs1336794140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14030808 (GRCh38)
19:14141620 (GRCh37)
Canonical SPDI:: NC_000019.10:14030807:C:T
Gene:: IL27RA (Varview), RLN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.14030808C>T, NC_000019.9:g.14141620C>T, NW_021160022.1:g.242649C>T, NM_080864.4:c.289C>T, NM_080864.3:c.289C>T, NM_080864.2:c.289C>T, NM_001311197.2:c.*71C>T, NM_001311197.1:c.*71C>T, NP_543140.1:p.Pro97Ser

Select item 133284446918.

rs1332844469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:14028342 (GRCh38)
19:14139154 (GRCh37)
Canonical SPDI:: NC_000019.10:14028341:C:G,NC_000019.10:14028341:C:T
Gene:: RLN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14028342C>G, NC_000019.10:g.14028342C>T, NC_000019.9:g.14139154C>G, NC_000019.9:g.14139154C>T, NW_021160022.1:g.240183C>G, NW_021160022.1:g.240183C>T, NM_080864.4:c.138C>G, NM_080864.4:c.138C>T, NM_080864.3:c.138C>G, NM_080864.3:c.138C>T, NM_080864.2:c.138C>G, NM_080864.2:c.138C>T, NM_001311197.2:c.138C>G, NM_001311197.2:c.138C>T, NM_001311197.1:c.138C>G, NM_001311197.1:c.138C>T

Select item 132426227219.

rs1324262272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14028334 (GRCh38)
19:14139146 (GRCh37)
Canonical SPDI:: NC_000019.10:14028333:A:G
Gene:: RLN3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.14028334A>G, NC_000019.9:g.14139146A>G, NW_021160022.1:g.240175A>G, NM_080864.4:c.130A>G, NM_080864.3:c.130A>G, NM_080864.2:c.130A>G, NM_001311197.2:c.130A>G, NM_001311197.1:c.130A>G, NP_543140.1:p.Ile44Val, NP_001298126.1:p.Ile44Val

Select item 131034789620.

rs1310347896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14028267 (GRCh38)
19:14139079 (GRCh37)
Canonical SPDI:: NC_000019.10:14028266:G:A
Gene:: RLN3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.14028267G>A, NC_000019.9:g.14139079G>A, NW_021160022.1:g.240108G>A, NM_080864.4:c.63G>A, NM_080864.3:c.63G>A, NM_080864.2:c.63G>A, NM_001311197.2:c.63G>A, NM_001311197.1:c.63G>A

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