SNP Links for Protein (Select 256000758) - SNP

Select item 14906650231.

rs1490665023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186398404 (GRCh38)
1:186367536 (GRCh37)
Canonical SPDI:: NC_000001.11:186398403:T:C
Gene:: ODR4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_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_000001.11:g.186398404T>C, NC_000001.10:g.186367536T>C, NM_017847.6:c.872T>C, NM_017847.5:c.872T>C, XM_011509660.3:c.872T>C, XM_011509660.2:c.872T>C, XM_011509660.1:c.872T>C, NM_001164245.2:c.803T>C, NM_001164245.1:c.803T>C, NM_001164246.2:c.776T>C, NM_001164246.1:c.776T>C, XM_047423438.1:c.872T>C, XR_007061319.1:n.1028T>C, XR_007061320.1:n.1028T>C, XM_047423439.1:c.872T>C, XM_047423440.1:c.776T>C, NP_060317.3:p.Ile291Thr, XP_011507962.1:p.Ile291Thr, NP_001157717.1:p.Ile268Thr, NP_001157718.1:p.Ile259Thr, XP_047279394.1:p.Ile291Thr, XP_047279395.1:p.Ile291Thr, XP_047279396.1:p.Ile259Thr

Select item 14846785712.

rs1484678571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186386052 (GRCh38)
1:186355184 (GRCh37)
Canonical SPDI:: NC_000001.11:186386051:T:C
Gene:: ODR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.186386052T>C, NC_000001.10:g.186355184T>C, NM_017847.6:c.299T>C, NM_017847.5:c.299T>C, XM_011509660.3:c.299T>C, XM_011509660.2:c.299T>C, XM_011509660.1:c.299T>C, XM_017001543.3:c.299T>C, XM_017001543.2:c.299T>C, XM_017001543.1:c.299T>C, NM_001164245.2:c.299T>C, NM_001164245.1:c.299T>C, XM_047423438.1:c.299T>C, XR_007061319.1:n.455T>C, XR_007061320.1:n.455T>C, XM_047423439.1:c.299T>C, NP_060317.3:p.Leu100Pro, XP_011507962.1:p.Leu100Pro, XP_016857032.1:p.Leu100Pro, NP_001157717.1:p.Leu100Pro, XP_047279394.1:p.Leu100Pro, XP_047279395.1:p.Leu100Pro

Select item 14822379783.

rs1482237978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:186383151 (GRCh38)
1:186352283 (GRCh37)
Canonical SPDI:: NC_000001.11:186383150:T:A
Gene:: ODR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.186383151T>A, NC_000001.10:g.186352283T>A, NM_017847.6:c.229T>A, NM_017847.5:c.229T>A, XM_011509660.3:c.229T>A, XM_011509660.2:c.229T>A, XM_011509660.1:c.229T>A, XM_017001543.3:c.229T>A, XM_017001543.2:c.229T>A, XM_017001543.1:c.229T>A, NM_001164245.2:c.229T>A, NM_001164245.1:c.229T>A, NM_001164246.2:c.229T>A, NM_001164246.1:c.229T>A, XM_047423438.1:c.229T>A, XR_007061319.1:n.385T>A, XR_007061320.1:n.385T>A, XM_047423439.1:c.229T>A, XM_047423440.1:c.229T>A, NP_060317.3:p.Cys77Ser, XP_011507962.1:p.Cys77Ser, XP_016857032.1:p.Cys77Ser, NP_001157717.1:p.Cys77Ser, NP_001157718.1:p.Cys77Ser, XP_047279394.1:p.Cys77Ser, XP_047279395.1:p.Cys77Ser, XP_047279396.1:p.Cys77Ser

Select item 14812440124.

rs1481244012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:186406174 (GRCh38)
1:186375306 (GRCh37)
Canonical SPDI:: NC_000001.11:186406173:T:A,NC_000001.11:186406173:T:C
Gene:: ODR4 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (KOREAN)
A=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.186406174T>A, NC_000001.11:g.186406174T>C, NC_000001.10:g.186375306T>A, NC_000001.10:g.186375306T>C, NM_017847.6:c.1092T>A, NM_017847.6:c.1092T>C, NM_017847.5:c.1092T>A, NM_017847.5:c.1092T>C, XM_011509660.3:c.1092T>A, XM_011509660.3:c.1092T>C, XM_011509660.2:c.1092T>A, XM_011509660.2:c.1092T>C, XM_011509660.1:c.1092T>A, XM_011509660.1:c.1092T>C, NM_001164245.2:c.1023T>A, NM_001164245.2:c.1023T>C, NM_001164245.1:c.1023T>A, NM_001164245.1:c.1023T>C, NM_001164246.2:c.996T>A, NM_001164246.2:c.996T>C, NM_001164246.1:c.996T>A, NM_001164246.1:c.996T>C, XM_047423438.1:c.1092T>A, XM_047423438.1:c.1092T>C, XR_007061319.1:n.1248T>A, XR_007061319.1:n.1248T>C, XR_007061320.1:n.1248T>A, XR_007061320.1:n.1248T>C, XM_047423439.1:c.*26T>A, XM_047423439.1:c.*26T>C, XM_047423440.1:c.*26T>A, XM_047423440.1:c.*26T>C, NP_060317.3:p.Asp364Glu, XP_011507962.1:p.Asp364Glu, NP_001157717.1:p.Asp341Glu, NP_001157718.1:p.Asp332Glu, XP_047279394.1:p.Asp364Glu

Select item 14768643675.

rs1476864367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186417639 (GRCh38)
1:186386771 (GRCh37)
Canonical SPDI:: NC_000001.11:186417638:A:G
Gene:: ODR4 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.186417639A>G, NC_000001.10:g.186386771A>G, NM_017847.6:c.1282A>G, NM_017847.5:c.1282A>G, XM_011509660.3:c.1282A>G, XM_011509660.2:c.1282A>G, XM_011509660.1:c.1282A>G, NM_001164245.2:c.1213A>G, NM_001164245.1:c.1213A>G, NM_001164246.2:c.1186A>G, NM_001164246.1:c.1186A>G, XM_047423438.1:c.1282A>G, XR_007061319.1:n.1438A>G, NP_060317.3:p.Ile428Val, XP_011507962.1:p.Ile428Val, NP_001157717.1:p.Ile405Val, NP_001157718.1:p.Ile396Val, XP_047279394.1:p.Ile428Val

Select item 14763699836.

rs1476369983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186399010 (GRCh38)
1:186368142 (GRCh37)
Canonical SPDI:: NC_000001.11:186399009:G:A
Gene:: ODR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000001.11:g.186399010G>A, NC_000001.10:g.186368142G>A, NM_017847.6:c.966G>A, NM_017847.5:c.966G>A, XM_011509660.3:c.966G>A, XM_011509660.2:c.966G>A, XM_011509660.1:c.966G>A, NM_001164245.2:c.897G>A, NM_001164245.1:c.897G>A, NM_001164246.2:c.870G>A, NM_001164246.1:c.870G>A, XM_047423438.1:c.966G>A, XR_007061319.1:n.1122G>A, XR_007061320.1:n.1122G>A, XM_047423439.1:c.966G>A, XM_047423440.1:c.870G>A

Select item 14763184667.

rs1476318466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186417567 (GRCh38)
1:186386699 (GRCh37)
Canonical SPDI:: NC_000001.11:186417566:A:G
Gene:: ODR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.186417567A>G, NC_000001.10:g.186386699A>G, NM_017847.6:c.1210A>G, NM_017847.5:c.1210A>G, XM_011509660.3:c.1210A>G, XM_011509660.2:c.1210A>G, XM_011509660.1:c.1210A>G, NM_001164245.2:c.1141A>G, NM_001164245.1:c.1141A>G, NM_001164246.2:c.1114A>G, NM_001164246.1:c.1114A>G, XM_047423438.1:c.1210A>G, XR_007061319.1:n.1366A>G, XR_007061320.1:n.1449A>G, NP_060317.3:p.Ser404Gly, XP_011507962.1:p.Ser404Gly, NP_001157717.1:p.Ser381Gly, NP_001157718.1:p.Ser372Gly, XP_047279394.1:p.Ser404Gly

Select item 14737408858.

rs1473740885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186383027 (GRCh38)
1:186352159 (GRCh37)
Canonical SPDI:: NC_000001.11:186383026:G:A
Gene:: ODR4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00002/4 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.186383027G>A, NC_000001.10:g.186352159G>A, NM_017847.6:c.105G>A, NM_017847.5:c.105G>A, XM_011509660.3:c.105G>A, XM_011509660.2:c.105G>A, XM_011509660.1:c.105G>A, XM_017001543.3:c.105G>A, XM_017001543.2:c.105G>A, XM_017001543.1:c.105G>A, NM_001164245.2:c.105G>A, NM_001164245.1:c.105G>A, NM_001164246.2:c.105G>A, NM_001164246.1:c.105G>A, XM_047423438.1:c.105G>A, XR_007061319.1:n.261G>A, XR_007061320.1:n.261G>A, XM_047423439.1:c.105G>A, XM_047423440.1:c.105G>A

Select item 14728051169.

rs1472805116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:186383101 (GRCh38)
1:186352233 (GRCh37)
Canonical SPDI:: NC_000001.11:186383100:C:G,NC_000001.11:186383100:C:T
Gene:: ODR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.186383101C>G, NC_000001.11:g.186383101C>T, NC_000001.10:g.186352233C>G, NC_000001.10:g.186352233C>T, NM_017847.6:c.179C>G, NM_017847.6:c.179C>T, NM_017847.5:c.179C>G, NM_017847.5:c.179C>T, XM_011509660.3:c.179C>G, XM_011509660.3:c.179C>T, XM_011509660.2:c.179C>G, XM_011509660.2:c.179C>T, XM_011509660.1:c.179C>G, XM_011509660.1:c.179C>T, XM_017001543.3:c.179C>G, XM_017001543.3:c.179C>T, XM_017001543.2:c.179C>G, XM_017001543.2:c.179C>T, XM_017001543.1:c.179C>G, XM_017001543.1:c.179C>T, NM_001164245.2:c.179C>G, NM_001164245.2:c.179C>T, NM_001164245.1:c.179C>G, NM_001164245.1:c.179C>T, NM_001164246.2:c.179C>G, NM_001164246.2:c.179C>T, NM_001164246.1:c.179C>G, NM_001164246.1:c.179C>T, XM_047423438.1:c.179C>G, XM_047423438.1:c.179C>T, XR_007061319.1:n.335C>G, XR_007061319.1:n.335C>T, XR_007061320.1:n.335C>G, XR_007061320.1:n.335C>T, XM_047423439.1:c.179C>G, XM_047423439.1:c.179C>T, XM_047423440.1:c.179C>G, XM_047423440.1:c.179C>T, NP_060317.3:p.Pro60Arg, NP_060317.3:p.Pro60Leu, XP_011507962.1:p.Pro60Arg, XP_011507962.1:p.Pro60Leu, XP_016857032.1:p.Pro60Arg, XP_016857032.1:p.Pro60Leu, NP_001157717.1:p.Pro60Arg, NP_001157717.1:p.Pro60Leu, NP_001157718.1:p.Pro60Arg, NP_001157718.1:p.Pro60Leu, XP_047279394.1:p.Pro60Arg, XP_047279394.1:p.Pro60Leu, XP_047279395.1:p.Pro60Arg, XP_047279395.1:p.Pro60Leu, XP_047279396.1:p.Pro60Arg, XP_047279396.1:p.Pro60Leu

Select item 147053631910.

rs1470536319 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:186388543 (GRCh38)
1:186357675 (GRCh37)
Canonical SPDI:: NC_000001.11:186388542:AAAAAA:AAAAA
Gene:: ODR4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.186388548del, NC_000001.10:g.186357680del, NM_017847.6:c.439del, NM_017847.5:c.439del, XM_011509660.3:c.439del, XM_011509660.2:c.439del, XM_011509660.1:c.439del, XM_017001543.3:c.439del, XM_017001543.2:c.439del, XM_017001543.1:c.439del, NM_001164245.2:c.439del, NM_001164245.1:c.439del, NM_001164246.2:c.343del, NM_001164246.1:c.343del, XM_047423438.1:c.439del, XR_007061319.1:n.595del, XR_007061320.1:n.595del, XM_047423439.1:c.439del, XM_047423440.1:c.343del, NP_060317.3:p.Ile147fs, XP_011507962.1:p.Ile147fs, XP_016857032.1:p.Ile147fs, NP_001157717.1:p.Ile147fs, NP_001157718.1:p.Ile115fs, XP_047279394.1:p.Ile147fs, XP_047279395.1:p.Ile147fs, XP_047279396.1:p.Ile115fs

Select item 146535230311.

rs1465352303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:186383150 (GRCh38)
1:186352282 (GRCh37)
Canonical SPDI:: NC_000001.11:186383149:C:G,NC_000001.11:186383149:C:T
Gene:: ODR4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.186383150C>G, NC_000001.11:g.186383150C>T, NC_000001.10:g.186352282C>G, NC_000001.10:g.186352282C>T, NM_017847.6:c.228C>G, NM_017847.6:c.228C>T, NM_017847.5:c.228C>G, NM_017847.5:c.228C>T, XM_011509660.3:c.228C>G, XM_011509660.3:c.228C>T, XM_011509660.2:c.228C>G, XM_011509660.2:c.228C>T, XM_011509660.1:c.228C>G, XM_011509660.1:c.228C>T, XM_017001543.3:c.228C>G, XM_017001543.3:c.228C>T, XM_017001543.2:c.228C>G, XM_017001543.2:c.228C>T, XM_017001543.1:c.228C>G, XM_017001543.1:c.228C>T, NM_001164245.2:c.228C>G, NM_001164245.2:c.228C>T, NM_001164245.1:c.228C>G, NM_001164245.1:c.228C>T, NM_001164246.2:c.228C>G, NM_001164246.2:c.228C>T, NM_001164246.1:c.228C>G, NM_001164246.1:c.228C>T, XM_047423438.1:c.228C>G, XM_047423438.1:c.228C>T, XR_007061319.1:n.384C>G, XR_007061319.1:n.384C>T, XR_007061320.1:n.384C>G, XR_007061320.1:n.384C>T, XM_047423439.1:c.228C>G, XM_047423439.1:c.228C>T, XM_047423440.1:c.228C>G, XM_047423440.1:c.228C>T

Select item 146428193512.

rs1464281935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:186417573 (GRCh38)
1:186386705 (GRCh37)
Canonical SPDI:: NC_000001.11:186417572:G:A
Gene:: ODR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.186417573G>A, NC_000001.10:g.186386705G>A, NM_017847.6:c.1216G>A, NM_017847.5:c.1216G>A, XM_011509660.3:c.1216G>A, XM_011509660.2:c.1216G>A, XM_011509660.1:c.1216G>A, NM_001164245.2:c.1147G>A, NM_001164245.1:c.1147G>A, NM_001164246.2:c.1120G>A, NM_001164246.1:c.1120G>A, XM_047423438.1:c.1216G>A, XR_007061319.1:n.1372G>A, XR_007061320.1:n.1455G>A, NP_060317.3:p.Ala406Thr, XP_011507962.1:p.Ala406Thr, NP_001157717.1:p.Ala383Thr, NP_001157718.1:p.Ala374Thr, XP_047279394.1:p.Ala406Thr

Select item 146289996213.

rs1462899962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186379826 (GRCh38)
1:186348958 (GRCh37)
Canonical SPDI:: NC_000001.11:186379825:A:G
Gene:: ODR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.186379826A>G, NC_000001.10:g.186348958A>G, NG_023284.1:g.500T>C, NM_017847.6:c.41A>G, NM_017847.5:c.41A>G, XM_011509660.3:c.41A>G, XM_011509660.2:c.41A>G, XM_011509660.1:c.41A>G, XM_017001543.3:c.41A>G, XM_017001543.2:c.41A>G, XM_017001543.1:c.41A>G, NM_001164245.2:c.41A>G, NM_001164245.1:c.41A>G, NM_001164246.2:c.41A>G, NM_001164246.1:c.41A>G, XM_047423438.1:c.41A>G, XR_007061319.1:n.197A>G, XR_007061320.1:n.197A>G, XM_047423439.1:c.41A>G, XM_047423440.1:c.41A>G, NP_060317.3:p.Tyr14Cys, XP_011507962.1:p.Tyr14Cys, XP_016857032.1:p.Tyr14Cys, NP_001157717.1:p.Tyr14Cys, NP_001157718.1:p.Tyr14Cys, XP_047279394.1:p.Tyr14Cys, XP_047279395.1:p.Tyr14Cys, XP_047279396.1:p.Tyr14Cys

Select item 146017186014.

rs1460171860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:186398331 (GRCh38)
1:186367463 (GRCh37)
Canonical SPDI:: NC_000001.11:186398330:A:G
Gene:: ODR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.186398331A>G, NC_000001.10:g.186367463A>G, NM_017847.6:c.799A>G, NM_017847.5:c.799A>G, XM_011509660.3:c.799A>G, XM_011509660.2:c.799A>G, XM_011509660.1:c.799A>G, XM_017001543.3:c.*12A>G, XM_017001543.2:c.*12A>G, XM_017001543.1:c.*12A>G, NM_001164245.2:c.730A>G, NM_001164245.1:c.730A>G, NM_001164246.2:c.703A>G, NM_001164246.1:c.703A>G, XM_047423438.1:c.799A>G, XR_007061319.1:n.955A>G, XR_007061320.1:n.955A>G, XM_047423439.1:c.799A>G, XM_047423440.1:c.703A>G, NP_060317.3:p.Arg267Gly, XP_011507962.1:p.Arg267Gly, NP_001157717.1:p.Arg244Gly, NP_001157718.1:p.Arg235Gly, XP_047279394.1:p.Arg267Gly, XP_047279395.1:p.Arg267Gly, XP_047279396.1:p.Arg235Gly

Select item 145994271115.

rs1459942711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:186398395 (GRCh38)
1:186367527 (GRCh37)
Canonical SPDI:: NC_000001.11:186398394:G:C
Gene:: ODR4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_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_000001.11:g.186398395G>C, NC_000001.10:g.186367527G>C, NM_017847.6:c.863G>C, NM_017847.5:c.863G>C, XM_011509660.3:c.863G>C, XM_011509660.2:c.863G>C, XM_011509660.1:c.863G>C, XM_017001543.3:c.*76G>C, XM_017001543.2:c.*76G>C, XM_017001543.1:c.*76G>C, NM_001164245.2:c.794G>C, NM_001164245.1:c.794G>C, NM_001164246.2:c.767G>C, NM_001164246.1:c.767G>C, XM_047423438.1:c.863G>C, XR_007061319.1:n.1019G>C, XR_007061320.1:n.1019G>C, XM_047423439.1:c.863G>C, XM_047423440.1:c.767G>C, NP_060317.3:p.Arg288Thr, XP_011507962.1:p.Arg288Thr, NP_001157717.1:p.Arg265Thr, NP_001157718.1:p.Arg256Thr, XP_047279394.1:p.Arg288Thr, XP_047279395.1:p.Arg288Thr, XP_047279396.1:p.Arg256Thr

Select item 145474054116.

rs1454740541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:186388454 (GRCh38)
1:186357586 (GRCh37)
Canonical SPDI:: NC_000001.11:186388453:G:C
Gene:: ODR4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.186388454G>C, NC_000001.10:g.186357586G>C, NM_017847.6:c.343G>C, NM_017847.5:c.343G>C, XM_011509660.3:c.343G>C, XM_011509660.2:c.343G>C, XM_011509660.1:c.343G>C, XM_017001543.3:c.343G>C, XM_017001543.2:c.343G>C, XM_017001543.1:c.343G>C, NM_001164245.2:c.343G>C, NM_001164245.1:c.343G>C, NM_001164246.2:c.247G>C, NM_001164246.1:c.247G>C, XM_047423438.1:c.343G>C, XR_007061319.1:n.499G>C, XR_007061320.1:n.499G>C, XM_047423439.1:c.343G>C, XM_047423440.1:c.247G>C, NP_060317.3:p.Val115Leu, XP_011507962.1:p.Val115Leu, XP_016857032.1:p.Val115Leu, NP_001157717.1:p.Val115Leu, NP_001157718.1:p.Val83Leu, XP_047279394.1:p.Val115Leu, XP_047279395.1:p.Val115Leu, XP_047279396.1:p.Val83Leu

Select item 145452255217.

rs1454522552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:186406109 (GRCh38)
1:186375241 (GRCh37)
Canonical SPDI:: NC_000001.11:186406108:C:T
Gene:: ODR4 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000113/4 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.186406109C>T, NC_000001.10:g.186375241C>T, NM_017847.6:c.1027C>T, NM_017847.5:c.1027C>T, XM_011509660.3:c.1027C>T, XM_011509660.2:c.1027C>T, XM_011509660.1:c.1027C>T, NM_001164245.2:c.958C>T, NM_001164245.1:c.958C>T, NM_001164246.2:c.931C>T, NM_001164246.1:c.931C>T, XM_047423438.1:c.1027C>T, XR_007061319.1:n.1183C>T, XR_007061320.1:n.1183C>T, XM_047423439.1:c.1026C>T, XM_047423440.1:c.930C>T, NP_060317.3:p.Pro343Ser, XP_011507962.1:p.Pro343Ser, NP_001157717.1:p.Pro320Ser, NP_001157718.1:p.Pro311Ser, XP_047279394.1:p.Pro343Ser

Select item 145282857518.

rs1452828575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186398970 (GRCh38)
1:186368102 (GRCh37)
Canonical SPDI:: NC_000001.11:186398969:T:C
Gene:: ODR4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_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_000001.11:g.186398970T>C, NC_000001.10:g.186368102T>C, NM_017847.6:c.926T>C, NM_017847.5:c.926T>C, XM_011509660.3:c.926T>C, XM_011509660.2:c.926T>C, XM_011509660.1:c.926T>C, NM_001164245.2:c.857T>C, NM_001164245.1:c.857T>C, NM_001164246.2:c.830T>C, NM_001164246.1:c.830T>C, XM_047423438.1:c.926T>C, XR_007061319.1:n.1082T>C, XR_007061320.1:n.1082T>C, XM_047423439.1:c.926T>C, XM_047423440.1:c.830T>C, NP_060317.3:p.Ile309Thr, XP_011507962.1:p.Ile309Thr, NP_001157717.1:p.Ile286Thr, NP_001157718.1:p.Ile277Thr, XP_047279394.1:p.Ile309Thr, XP_047279395.1:p.Ile309Thr, XP_047279396.1:p.Ile277Thr

Select item 145275033819.

rs1452750338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:186390796 (GRCh38)
1:186359928 (GRCh37)
Canonical SPDI:: NC_000001.11:186390795:T:C
Gene:: ODR4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.186390796T>C, NC_000001.10:g.186359928T>C, NM_017847.6:c.560T>C, NM_017847.5:c.560T>C, XM_011509660.3:c.560T>C, XM_011509660.2:c.560T>C, XM_011509660.1:c.560T>C, XM_017001543.3:c.560T>C, XM_017001543.2:c.560T>C, XM_017001543.1:c.560T>C, NM_001164245.2:c.560T>C, NM_001164245.1:c.560T>C, NM_001164246.2:c.464T>C, NM_001164246.1:c.464T>C, XM_047423438.1:c.560T>C, XR_007061319.1:n.716T>C, XR_007061320.1:n.716T>C, XM_047423439.1:c.560T>C, XM_047423440.1:c.464T>C, NP_060317.3:p.Ile187Thr, XP_011507962.1:p.Ile187Thr, XP_016857032.1:p.Ile187Thr, NP_001157717.1:p.Ile187Thr, NP_001157718.1:p.Ile155Thr, XP_047279394.1:p.Ile187Thr, XP_047279395.1:p.Ile187Thr, XP_047279396.1:p.Ile155Thr

Select item 145211496720.

rs1452114967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:186399032 (GRCh38)
1:186368164 (GRCh37)
Canonical SPDI:: NC_000001.11:186399031:C:A
Gene:: ODR4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.186399032C>A, NC_000001.10:g.186368164C>A, NM_017847.6:c.988C>A, NM_017847.5:c.988C>A, XM_011509660.3:c.988C>A, XM_011509660.2:c.988C>A, XM_011509660.1:c.988C>A, NM_001164245.2:c.919C>A, NM_001164245.1:c.919C>A, NM_001164246.2:c.892C>A, NM_001164246.1:c.892C>A, XM_047423438.1:c.988C>A, XR_007061319.1:n.1144C>A, XR_007061320.1:n.1144C>A, XM_047423439.1:c.988C>A, XM_047423440.1:c.892C>A, NP_060317.3:p.Pro330Thr, XP_011507962.1:p.Pro330Thr, NP_001157717.1:p.Pro307Thr, NP_001157718.1:p.Pro298Thr, XP_047279394.1:p.Pro330Thr, XP_047279395.1:p.Pro330Thr, XP_047279396.1:p.Pro298Thr

dbSNP

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 403

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