SNP Links for Protein (Select 20544172) - SNP

Links from Protein

Items: 1 to 20 of 379

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Select item 14863896481.

rs1486389648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:96263699 (GRCh38)
14:96730036 (GRCh37)
Canonical SPDI:: NC_000014.9:96263698:C:G
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,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_000014.9:g.96263699C>G, NC_000014.8:g.96730036C>G, NM_000710.4:c.17C>G, NM_000710.3:c.17C>G, NM_001386007.1:c.17C>G, NP_000701.2:p.Pro6Arg, NP_001372936.1:p.Pro6Arg

Select item 14848298202.

rs1484829820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:96263690 (GRCh38)
14:96730027 (GRCh37)
Canonical SPDI:: NC_000014.9:96263689:C:T
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,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_000014.9:g.96263690C>T, NC_000014.8:g.96730027C>T, NM_000710.4:c.8C>T, NM_000710.3:c.8C>T, NM_001386007.1:c.8C>T, NP_000701.2:p.Ser3Leu, NP_001372936.1:p.Ser3Leu

Select item 14840226433.

rs1484022643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:96264434 (GRCh38)
14:96730771 (GRCh37)
Canonical SPDI:: NC_000014.9:96264433:T:C
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000671/3 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000014.9:g.96264434T>C, NC_000014.8:g.96730771T>C, NM_000710.4:c.752T>C, NM_000710.3:c.752T>C, NM_001386007.1:c.752T>C, NP_000701.2:p.Leu251Pro, NP_001372936.1:p.Leu251Pro

Select item 14815711824.

rs1481571182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:96263830 (GRCh38)
14:96730167 (GRCh37)
Canonical SPDI:: NC_000014.9:96263829:T:C
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96263830T>C, NC_000014.8:g.96730167T>C, NM_000710.4:c.148T>C, NM_000710.3:c.148T>C, NM_001386007.1:c.148T>C, NP_000701.2:p.Phe50Leu, NP_001372936.1:p.Phe50Leu

Select item 14814823335.

rs1481482333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 14:96264149 (GRCh38)
14:96730486 (GRCh37)
Canonical SPDI:: NC_000014.9:96264148:T:A,NC_000014.9:96264148:T:G
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
G=0.004367/8 (Korea1K)
HGVS:: NC_000014.9:g.96264149T>A, NC_000014.9:g.96264149T>G, NC_000014.8:g.96730486T>A, NC_000014.8:g.96730486T>G, NM_000710.4:c.467T>A, NM_000710.4:c.467T>G, NM_000710.3:c.467T>A, NM_000710.3:c.467T>G, NM_001386007.1:c.467T>A, NM_001386007.1:c.467T>G, NP_000701.2:p.Val156Asp, NP_000701.2:p.Val156Gly, NP_001372936.1:p.Val156Asp, NP_001372936.1:p.Val156Gly

Select item 14791914676.

rs1479191467 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 14:96264425 (GRCh38)
14:96730762 (GRCh37)
Canonical SPDI:: NC_000014.9:96264424:CC:C
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96264426del, NC_000014.8:g.96730763del, NM_000710.4:c.744del, NM_000710.3:c.744del, NM_001386007.1:c.744del, NP_000701.2:p.Thr249fs, NP_001372936.1:p.Thr249fs

Select item 14775681297.

rs1477568129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:96263844 (GRCh38)
14:96730181 (GRCh37)
Canonical SPDI:: NC_000014.9:96263843:G:A
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.96263844G>A, NC_000014.8:g.96730181G>A, NM_000710.4:c.162G>A, NM_000710.3:c.162G>A, NM_001386007.1:c.162G>A

Select item 14768036108.

rs1476803610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:96264530 (GRCh38)
14:96730867 (GRCh37)
Canonical SPDI:: NC_000014.9:96264529:G:A
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_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_000014.9:g.96264530G>A, NC_000014.8:g.96730867G>A, NM_000710.4:c.848G>A, NM_000710.3:c.848G>A, NM_001386007.1:c.848G>A, NP_000701.2:p.Gly283Asp, NP_001372936.1:p.Gly283Asp

Select item 14677341769.

rs1467734176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:96264510 (GRCh38)
14:96730847 (GRCh37)
Canonical SPDI:: NC_000014.9:96264509:C:T
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,intron_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_000014.9:g.96264510C>T, NC_000014.8:g.96730847C>T, NM_000710.4:c.828C>T, NM_000710.3:c.828C>T, NM_001386007.1:c.828C>T

Select item 146772669710.

rs1467726697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:96264377 (GRCh38)
14:96730714 (GRCh37)
Canonical SPDI:: NC_000014.9:96264376:G:A
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000014.9:g.96264377G>A, NC_000014.8:g.96730714G>A, NM_000710.4:c.695G>A, NM_000710.3:c.695G>A, NM_001386007.1:c.695G>A, NP_000701.2:p.Arg232Gln, NP_001372936.1:p.Arg232Gln

Select item 146510771511.

rs1465107715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:96263812 (GRCh38)
14:96730149 (GRCh37)
Canonical SPDI:: NC_000014.9:96263811:A:G
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000014.9:g.96263812A>G, NC_000014.8:g.96730149A>G, NM_000710.4:c.130A>G, NM_000710.3:c.130A>G, NM_001386007.1:c.130A>G, NP_000701.2:p.Ile44Val, NP_001372936.1:p.Ile44Val

Select item 146461571412.

rs1464615714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:96263782 (GRCh38)
14:96730119 (GRCh37)
Canonical SPDI:: NC_000014.9:96263781:G:A,NC_000014.9:96263781:G:C
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96263782G>A, NC_000014.9:g.96263782G>C, NC_000014.8:g.96730119G>A, NC_000014.8:g.96730119G>C, NM_000710.4:c.100G>A, NM_000710.4:c.100G>C, NM_000710.3:c.100G>A, NM_000710.3:c.100G>C, NM_001386007.1:c.100G>A, NM_001386007.1:c.100G>C, NP_000701.2:p.Asp34Asn, NP_000701.2:p.Asp34His, NP_001372936.1:p.Asp34Asn, NP_001372936.1:p.Asp34His

Select item 146389834013.

rs1463898340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:96264165 (GRCh38)
14:96730502 (GRCh37)
Canonical SPDI:: NC_000014.9:96264164:C:T
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.96264165C>T, NC_000014.8:g.96730502C>T, NM_000710.4:c.483C>T, NM_000710.3:c.483C>T, NM_001386007.1:c.483C>T

Select item 146164304614.

rs1461643046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:96264368 (GRCh38)
14:96730705 (GRCh37)
Canonical SPDI:: NC_000014.9:96264367:T:G
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96264368T>G, NC_000014.8:g.96730705T>G, NM_000710.4:c.686T>G, NM_000710.3:c.686T>G, NM_001386007.1:c.686T>G, NP_000701.2:p.Leu229Arg, NP_001372936.1:p.Leu229Arg

Select item 145779509815.

rs1457795098 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:96264712 (GRCh38)
14:96731049 (GRCh37)
Canonical SPDI:: NC_000014.9:96264711:AAA:AA
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96264714del, NC_000014.8:g.96731051del, NM_000710.4:c.1032del, NM_000710.3:c.1032del, NM_001386007.1:c.1032del, NP_000701.2:p.Glu345fs, NP_001372936.1:p.Glu345fs

Select item 145454346516.

rs1454543465 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:96264422 (GRCh38)
14:96730759 (GRCh37)
Canonical SPDI:: NC_000014.9:96264421:A:G
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_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_000014.9:g.96264422A>G, NC_000014.8:g.96730759A>G, NM_000710.4:c.740A>G, NM_000710.3:c.740A>G, NM_001386007.1:c.740A>G, NP_000701.2:p.Lys247Arg, NP_001372936.1:p.Lys247Arg

Select item 145255432217.

rs1452554322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:96264322 (GRCh38)
14:96730659 (GRCh37)
Canonical SPDI:: NC_000014.9:96264321:C:T
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96264322C>T, NC_000014.8:g.96730659C>T, NM_000710.4:c.640C>T, NM_000710.3:c.640C>T, NM_001386007.1:c.640C>T, NP_000701.2:p.Pro214Ser, NP_001372936.1:p.Pro214Ser

Select item 144958577818.

rs1449585778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:96263841 (GRCh38)
14:96730178 (GRCh37)
Canonical SPDI:: NC_000014.9:96263840:A:G
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.96263841A>G, NC_000014.8:g.96730178A>G, NM_000710.4:c.159A>G, NM_000710.3:c.159A>G, NM_001386007.1:c.159A>G

Select item 144701306319.

rs1447013063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:96264613 (GRCh38)
14:96730950 (GRCh37)
Canonical SPDI:: NC_000014.9:96264612:A:G
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_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_000014.9:g.96264613A>G, NC_000014.8:g.96730950A>G, NM_000710.4:c.931A>G, NM_000710.3:c.931A>G, NM_001386007.1:c.931A>G, NP_000701.2:p.Ile311Val, NP_001372936.1:p.Ile311Val

Select item 144497667620.

rs1444976676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:96264289 (GRCh38)
14:96730626 (GRCh37)
Canonical SPDI:: NC_000014.9:96264288:A:C
Gene:: BDKRB1 (Varview), LOC124903375 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.96264289A>C, NC_000014.8:g.96730626A>C, NM_000710.4:c.607A>C, NM_000710.3:c.607A>C, NM_001386007.1:c.607A>C, NP_000701.2:p.Ile203Leu, NP_001372936.1:p.Ile203Leu

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