SNP Links for Protein (Select 37620210) - SNP

Links from Protein

Items: 1 to 20 of 162

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Select item 14885680021.

rs1488568002 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:244842220 (GRCh38)
1:245005523 (GRCh37)
Canonical SPDI:: NC_000001.11:244842220:GG:GGG
Gene:: COX20 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244842222dup, NC_000001.10:g.245005524dup, NG_042825.1:g.11917dup, NM_198076.6:c.185dup, NM_198076.5:c.185dup, NM_198076.4:c.185dup, NM_001312872.1:c.221dup, NM_001312871.1:c.185dup, NM_001312874.1:c.181dup, NR_132420.1:n.404dup, NR_132419.1:n.309dup, NM_001312873.1:c.50dup, NR_132421.1:n.285dup, NR_026778.1:n.3462dup, NP_932342.1:p.Val63fs, NP_001299801.1:p.Val75fs, NP_001299800.1:p.Val63fs, NP_001299803.1:p.Glu61fs, NP_001299802.1:p.Val18fs

Select item 14804178262.

rs1480417826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:244842210 (GRCh38)
1:245005512 (GRCh37)
Canonical SPDI:: NC_000001.11:244842209:C:A,NC_000001.11:244842209:C:G
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.244842210C>A, NC_000001.11:g.244842210C>G, NC_000001.10:g.245005512C>A, NC_000001.10:g.245005512C>G, NG_042825.1:g.11905C>A, NG_042825.1:g.11905C>G, NM_198076.6:c.173C>A, NM_198076.6:c.173C>G, NM_198076.5:c.173C>A, NM_198076.5:c.173C>G, NM_198076.4:c.173C>A, NM_198076.4:c.173C>G, NM_001312872.1:c.209C>A, NM_001312872.1:c.209C>G, NM_001312871.1:c.173C>A, NM_001312871.1:c.173C>G, NM_001312874.1:c.169C>A, NM_001312874.1:c.169C>G, NR_132420.1:n.392C>A, NR_132420.1:n.392C>G, NR_132419.1:n.297C>A, NR_132419.1:n.297C>G, NM_001312873.1:c.38C>A, NM_001312873.1:c.38C>G, NR_132421.1:n.273C>A, NR_132421.1:n.273C>G, NR_026778.1:n.3473G>T, NR_026778.1:n.3473G>C, NP_932342.1:p.Ser58Ter, NP_932342.1:p.Ser58Ter, NP_001299801.1:p.Ser70Ter, NP_001299801.1:p.Ser70Ter, NP_001299800.1:p.Ser58Ter, NP_001299800.1:p.Ser58Ter, NP_001299803.1:p.His57Asn, NP_001299803.1:p.His57Asp, NP_001299802.1:p.Ser13Ter, NP_001299802.1:p.Ser13Ter

Select item 14771032153.

rs1477103215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244843141 (GRCh38)
1:245006443 (GRCh37)
Canonical SPDI:: NC_000001.11:244843140:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244843141C>T, NC_000001.10:g.245006443C>T, NG_042825.1:g.12836C>T, NM_198076.6:c.322C>T, NM_198076.5:c.322C>T, NM_198076.4:c.322C>T, NM_001312872.1:c.358C>T, NM_001312871.1:c.322C>T, NM_001312874.1:c.*132C>T, NR_132420.1:n.541C>T, NR_132419.1:n.446C>T, NM_001312873.1:c.187C>T, NR_132421.1:n.422C>T, NR_026778.1:n.2542G>A, NP_932342.1:p.Pro108Ser, NP_001299801.1:p.Pro120Ser, NP_001299800.1:p.Pro108Ser, NP_001299802.1:p.Pro63Ser

Select item 14758396184.

rs1475839618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:244835747 (GRCh38)
1:244999049 (GRCh37)
Canonical SPDI:: NC_000001.11:244835746:G:A
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.244835747G>A, NC_000001.10:g.244999049G>A, NG_042825.1:g.5442G>A, NM_198076.6:c.33G>A, NM_198076.5:c.33G>A, NM_198076.4:c.33G>A, NM_001312872.1:c.33G>A, NM_001312871.1:c.33G>A, NM_001312874.1:c.33G>A, NR_132419.1:n.272G>A

Select item 14719155205.

rs1471915520 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:244843051 (GRCh38)
1:245006353 (GRCh37)
Canonical SPDI:: NC_000001.11:244843050:A:
Gene:: COX20 (Varview)
Functional Consequence:: frameshift_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.244843051del, NC_000001.10:g.245006353del, NG_042825.1:g.12746del, NM_198076.6:c.232del, NM_198076.5:c.232del, NM_198076.4:c.232del, NM_001312872.1:c.268del, NM_001312871.1:c.232del, NM_001312874.1:c.*42del, NR_132420.1:n.451del, NR_132419.1:n.356del, NM_001312873.1:c.97del, NR_132421.1:n.332del, NR_026778.1:n.2632del, NP_932342.1:p.Arg78fs, NP_001299801.1:p.Arg90fs, NP_001299800.1:p.Arg78fs, NP_001299802.1:p.Arg33fs

Select item 14561823436.

rs1456182343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244841999 (GRCh38)
1:245005301 (GRCh37)
Canonical SPDI:: NC_000001.11:244841998:C:T
Gene:: COX20 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244841999C>T, NC_000001.10:g.245005301C>T, NG_042825.1:g.11694C>T, NM_198076.6:c.98C>T, NM_198076.5:c.98C>T, NM_198076.4:c.98C>T, NM_001312872.1:c.134C>T, NM_001312871.1:c.98C>T, NM_001312874.1:c.98C>T, NR_132420.1:n.317C>T, NR_026778.1:n.3684G>A, NP_932342.1:p.Ser33Leu, NP_001299801.1:p.Ser45Leu, NP_001299800.1:p.Ser33Leu, NP_001299803.1:p.Ser33Leu

Select item 14497728807.

rs1449772880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:244835726 (GRCh38)
1:244999028 (GRCh37)
Canonical SPDI:: NC_000001.11:244835725:G:A
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.244835726G>A, NC_000001.10:g.244999028G>A, NG_042825.1:g.5421G>A, NM_198076.6:c.12G>A, NM_198076.5:c.12G>A, NM_198076.4:c.12G>A, NM_001312872.1:c.12G>A, NM_001312871.1:c.12G>A, NM_001312874.1:c.12G>A, NR_132420.1:n.251G>A, NR_132419.1:n.251G>A, NM_001312873.1:c.12G>A, NR_132421.1:n.251G>A

Select item 14451587308.

rs1445158730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:244835723 (GRCh38)
1:244999025 (GRCh37)
Canonical SPDI:: NC_000001.11:244835722:C:A,NC_000001.11:244835722:C:G,NC_000001.11:244835722:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244835723C>A, NC_000001.11:g.244835723C>G, NC_000001.11:g.244835723C>T, NC_000001.10:g.244999025C>A, NC_000001.10:g.244999025C>G, NC_000001.10:g.244999025C>T, NG_042825.1:g.5418C>A, NG_042825.1:g.5418C>G, NG_042825.1:g.5418C>T, NM_198076.6:c.9C>A, NM_198076.6:c.9C>G, NM_198076.6:c.9C>T, NM_198076.5:c.9C>A, NM_198076.5:c.9C>G, NM_198076.5:c.9C>T, NM_198076.4:c.9C>A, NM_198076.4:c.9C>G, NM_198076.4:c.9C>T, NM_001312872.1:c.9C>A, NM_001312872.1:c.9C>G, NM_001312872.1:c.9C>T, NM_001312871.1:c.9C>A, NM_001312871.1:c.9C>G, NM_001312871.1:c.9C>T, NM_001312874.1:c.9C>A, NM_001312874.1:c.9C>G, NM_001312874.1:c.9C>T, NR_132420.1:n.248C>A, NR_132420.1:n.248C>G, NR_132420.1:n.248C>T, NR_132419.1:n.248C>A, NR_132419.1:n.248C>G, NR_132419.1:n.248C>T, NM_001312873.1:c.9C>A, NM_001312873.1:c.9C>G, NM_001312873.1:c.9C>T, NR_132421.1:n.248C>A, NR_132421.1:n.248C>G, NR_132421.1:n.248C>T

Select item 14432308109.

rs1443230810 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:244843126 (GRCh38)
1:245006428 (GRCh37)
Canonical SPDI:: NC_000001.11:244843125:GG:G
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244843127del, NC_000001.10:g.245006429del, NG_042825.1:g.12822del, NM_198076.6:c.308del, NM_198076.5:c.308del, NM_198076.4:c.308del, NM_001312872.1:c.344del, NM_001312871.1:c.308del, NM_001312874.1:c.*118del, NR_132420.1:n.527del, NR_132419.1:n.432del, NM_001312873.1:c.173del, NR_132421.1:n.408del, NR_026778.1:n.2557del, NP_932342.1:p.Gly103fs, NP_001299801.1:p.Gly115fs, NP_001299800.1:p.Gly103fs, NP_001299802.1:p.Gly58fs

Select item 143873827810.

rs1438738278 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATC [Show Flanks]
Chromosome:: 1:244843135 (GRCh38)
1:245006438 (GRCh37)
Canonical SPDI:: NC_000001.11:244843135:TCGATC:TCGATCGATC
Gene:: COX20 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCGATCGATC=0./0 (ALFA)
TCGA=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.244843138_244843141dup, NC_000001.10:g.245006440_245006443dup, NG_042825.1:g.12833_12836dup, NM_198076.6:c.319_322dup, NM_198076.5:c.319_322dup, NM_198076.4:c.319_322dup, NM_001312872.1:c.355_358dup, NM_001312871.1:c.319_322dup, NM_001312874.1:c.*129_*132dup, NR_132420.1:n.538_541dup, NR_132419.1:n.443_446dup, NM_001312873.1:c.184_187dup, NR_132421.1:n.419_422dup, NR_026778.1:n.2544_2547dup, NP_932342.1:p.Pro108fs, NP_001299801.1:p.Pro120fs, NP_001299800.1:p.Pro108fs, NP_001299802.1:p.Pro63fs

Select item 143535294111.

rs1435352941 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:244843126 (GRCh38)
1:245006428 (GRCh37)
Canonical SPDI:: NC_000001.11:244843125:G:T
Gene:: COX20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000001.11:g.244843126G>T, NC_000001.10:g.245006428G>T, NG_042825.1:g.12821G>T, NM_198076.6:c.307G>T, NM_198076.5:c.307G>T, NM_198076.4:c.307G>T, NM_001312872.1:c.343G>T, NM_001312871.1:c.307G>T, NM_001312874.1:c.*117G>T, NR_132420.1:n.526G>T, NR_132419.1:n.431G>T, NM_001312873.1:c.172G>T, NR_132421.1:n.407G>T, NR_026778.1:n.2557C>A, NP_932342.1:p.Gly103Cys, NP_001299801.1:p.Gly115Cys, NP_001299800.1:p.Gly103Cys, NP_001299802.1:p.Gly58Cys

Select item 142992288512.

rs1429922885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244841985 (GRCh38)
1:245005287 (GRCh37)
Canonical SPDI:: NC_000001.11:244841984:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.244841985C>T, NC_000001.10:g.245005287C>T, NG_042825.1:g.11680C>T, NM_198076.6:c.84C>T, NM_198076.5:c.84C>T, NM_198076.4:c.84C>T, NM_001312872.1:c.120C>T, NM_001312871.1:c.84C>T, NM_001312874.1:c.84C>T, NR_132420.1:n.303C>T, NR_026778.1:n.3698G>A

Select item 142743644313.

rs1427436443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:244842228 (GRCh38)
1:245005530 (GRCh37)
Canonical SPDI:: NC_000001.11:244842227:G:A
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244842228G>A, NC_000001.10:g.245005530G>A, NG_042825.1:g.11923G>A, NM_198076.6:c.191G>A, NM_198076.5:c.191G>A, NM_198076.4:c.191G>A, NM_001312872.1:c.227G>A, NM_001312871.1:c.191G>A, NM_001312874.1:c.*1G>A, NR_132420.1:n.410G>A, NR_132419.1:n.315G>A, NM_001312873.1:c.56G>A, NR_132421.1:n.291G>A, NR_026778.1:n.3455C>T, NP_932342.1:p.Gly64Glu, NP_001299801.1:p.Gly76Glu, NP_001299800.1:p.Gly64Glu, NP_001299802.1:p.Gly19Glu

Select item 142170761214.

rs1421707612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:244842239 (GRCh38)
1:245005541 (GRCh37)
Canonical SPDI:: NC_000001.11:244842238:T:C
Gene:: COX20 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.244842239T>C, NC_000001.10:g.245005541T>C, NG_042825.1:g.11934T>C, NM_198076.6:c.202T>C, NM_198076.5:c.202T>C, NM_198076.4:c.202T>C, NM_001312872.1:c.238T>C, NM_001312871.1:c.202T>C, NM_001312874.1:c.*12T>C, NR_132420.1:n.421T>C, NR_132419.1:n.326T>C, NM_001312873.1:c.67T>C, NR_132421.1:n.302T>C, NR_026778.1:n.3444A>G

Select item 141588691815.

rs1415886918 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:244843155 (GRCh38)
1:245006457 (GRCh37)
Canonical SPDI:: NC_000001.11:244843151:ACACA:ACA
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000005/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.244843153CA[1], NC_000001.10:g.245006455CA[1], NG_042825.1:g.12848CA[1], NM_198076.6:c.336_337del, NM_198076.5:c.336_337del, NM_198076.4:c.336_337del, NM_001312872.1:c.372_373del, NM_001312871.1:c.336_337del, NM_001312874.1:c.*144CA[1], NR_132420.1:n.553CA[1], NR_132419.1:n.458CA[1], NM_001312873.1:c.201_202del, NR_132421.1:n.434CA[1], NR_026778.1:n.2528GT[1], NP_932342.1:p.His112fs, NP_001299801.1:p.His124fs, NP_001299800.1:p.His112fs, NP_001299802.1:p.His67fs

Select item 140523481616.

rs1405234816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:244835752 (GRCh38)
1:244999054 (GRCh37)
Canonical SPDI:: NC_000001.11:244835751:G:A
Gene:: COX20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244835752G>A, NC_000001.10:g.244999054G>A, NG_042825.1:g.5447G>A, NM_198076.6:c.38G>A, NM_198076.5:c.38G>A, NM_198076.4:c.38G>A, NM_001312872.1:c.38G>A, NM_001312871.1:c.38G>A, NM_001312874.1:c.38G>A, NR_132419.1:n.277G>A, NP_932342.1:p.Arg13Lys, NP_001299801.1:p.Arg13Lys, NP_001299800.1:p.Arg13Lys, NP_001299803.1:p.Arg13Lys

Select item 140504349617.

rs1405043496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:244841970 (GRCh38)
1:245005272 (GRCh37)
Canonical SPDI:: NC_000001.11:244841969:T:C
Gene:: COX20 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.244841970T>C, NC_000001.10:g.245005272T>C, NG_042825.1:g.11665T>C, NM_198076.6:c.69T>C, NM_198076.5:c.69T>C, NM_198076.4:c.69T>C, NM_001312872.1:c.105T>C, NM_001312871.1:c.69T>C, NM_001312874.1:c.69T>C, NR_132420.1:n.288T>C, NR_026778.1:n.3713A>G

Select item 140097501118.

rs1400975011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:244842051 (GRCh38)
1:245005353 (GRCh37)
Canonical SPDI:: NC_000001.11:244842050:G:A
Gene:: COX20 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.244842051G>A, NC_000001.10:g.245005353G>A, NG_042825.1:g.11746G>A, NM_198076.6:c.150G>A, NM_198076.5:c.150G>A, NM_198076.4:c.150G>A, NM_001312872.1:c.186G>A, NM_001312871.1:c.150G>A, NM_001312874.1:c.150G>A, NR_132420.1:n.369G>A, NR_026778.1:n.3632C>T

Select item 138280652419.

rs1382806524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:244835725 (GRCh38)
1:244999027 (GRCh37)
Canonical SPDI:: NC_000001.11:244835724:C:G,NC_000001.11:244835724:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00007/1 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000001.11:g.244835725C>G, NC_000001.11:g.244835725C>T, NC_000001.10:g.244999027C>G, NC_000001.10:g.244999027C>T, NG_042825.1:g.5420C>G, NG_042825.1:g.5420C>T, NM_198076.6:c.11C>G, NM_198076.6:c.11C>T, NM_198076.5:c.11C>G, NM_198076.5:c.11C>T, NM_198076.4:c.11C>G, NM_198076.4:c.11C>T, NM_001312872.1:c.11C>G, NM_001312872.1:c.11C>T, NM_001312871.1:c.11C>G, NM_001312871.1:c.11C>T, NM_001312874.1:c.11C>G, NM_001312874.1:c.11C>T, NR_132420.1:n.250C>G, NR_132420.1:n.250C>T, NR_132419.1:n.250C>G, NR_132419.1:n.250C>T, NM_001312873.1:c.11C>G, NM_001312873.1:c.11C>T, NR_132421.1:n.250C>G, NR_132421.1:n.250C>T, NP_932342.1:p.Pro4Arg, NP_932342.1:p.Pro4Leu, NP_001299801.1:p.Pro4Arg, NP_001299801.1:p.Pro4Leu, NP_001299800.1:p.Pro4Arg, NP_001299800.1:p.Pro4Leu, NP_001299803.1:p.Pro4Arg, NP_001299803.1:p.Pro4Leu, NP_001299802.1:p.Pro4Arg, NP_001299802.1:p.Pro4Leu

Select item 138111577520.

rs1381115775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:244842238 (GRCh38)
1:245005540 (GRCh37)
Canonical SPDI:: NC_000001.11:244842237:C:T
Gene:: COX20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.244842238C>T, NC_000001.10:g.245005540C>T, NG_042825.1:g.11933C>T, NM_198076.6:c.201C>T, NM_198076.5:c.201C>T, NM_198076.4:c.201C>T, NM_001312872.1:c.237C>T, NM_001312871.1:c.201C>T, NM_001312874.1:c.*11C>T, NR_132420.1:n.420C>T, NR_132419.1:n.325C>T, NM_001312873.1:c.66C>T, NR_132421.1:n.301C>T, NR_026778.1:n.3445G>A

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