SNP Links for Protein (Select 1034567862) - SNP

Select item 14896665901.

rs1489666590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:27734539 (GRCh38)
10:28023468 (GRCh37)
Canonical SPDI:: NC_000010.11:27734538:C:T
Gene:: MKX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.27734539C>T, NC_000010.10:g.28023468C>T, NG_029181.1:g.16311G>A, NM_173576.3:c.755G>A, NM_173576.2:c.755G>A, NM_001242702.2:c.755G>A, NM_001242702.1:c.755G>A, XM_017016106.2:c.755G>A, XM_017016106.1:c.755G>A, XM_017016105.2:c.755G>A, XM_017016105.1:c.755G>A, XM_017016108.2:c.755G>A, XM_017016108.1:c.755G>A, XM_017016107.2:c.755G>A, XM_017016107.1:c.755G>A, XM_047425117.1:c.755G>A, XM_047425119.1:c.755G>A, XM_047425118.1:c.755G>A, NP_775847.2:p.Gly252Glu, NP_001229631.1:p.Gly252Glu, XP_016871595.1:p.Gly252Glu, XP_016871594.1:p.Gly252Glu, XP_016871597.1:p.Gly252Glu, XP_016871596.1:p.Gly252Glu, XP_047281073.1:p.Gly252Glu, XP_047281075.1:p.Gly252Glu, XP_047281074.1:p.Gly252Glu

Select item 14844520422.

rs1484452042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:27743321 (GRCh38)
10:28032250 (GRCh37)
Canonical SPDI:: NC_000010.11:27743320:C:G
Gene:: MKX (Varview), MKX-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.27743321C>G, NC_000010.10:g.28032250C>G, NG_029181.1:g.7529G>C, NM_173576.3:c.95G>C, NM_173576.2:c.95G>C, NM_001242702.2:c.95G>C, NM_001242702.1:c.95G>C, XM_017016106.2:c.95G>C, XM_017016106.1:c.95G>C, XM_017016105.2:c.95G>C, XM_017016105.1:c.95G>C, XM_017016108.2:c.95G>C, XM_017016108.1:c.95G>C, XM_017016107.2:c.95G>C, XM_017016107.1:c.95G>C, XM_047425117.1:c.95G>C, XM_047425119.1:c.95G>C, XM_047425118.1:c.95G>C, NP_775847.2:p.Gly32Ala, NP_001229631.1:p.Gly32Ala, XP_016871595.1:p.Gly32Ala, XP_016871594.1:p.Gly32Ala, XP_016871597.1:p.Gly32Ala, XP_016871596.1:p.Gly32Ala, XP_047281073.1:p.Gly32Ala, XP_047281075.1:p.Gly32Ala, XP_047281074.1:p.Gly32Ala

Select item 14824833193.

rs1482483319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:27734588 (GRCh38)
10:28023517 (GRCh37)
Canonical SPDI:: NC_000010.11:27734587:C:T
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.27734588C>T, NC_000010.10:g.28023517C>T, NG_029181.1:g.16262G>A, NM_173576.3:c.706G>A, NM_173576.2:c.706G>A, NM_001242702.2:c.706G>A, NM_001242702.1:c.706G>A, XM_017016106.2:c.706G>A, XM_017016106.1:c.706G>A, XM_017016105.2:c.706G>A, XM_017016105.1:c.706G>A, XM_017016108.2:c.706G>A, XM_017016108.1:c.706G>A, XM_017016107.2:c.706G>A, XM_017016107.1:c.706G>A, XM_047425117.1:c.706G>A, XM_047425119.1:c.706G>A, XM_047425118.1:c.706G>A, NP_775847.2:p.Ala236Thr, NP_001229631.1:p.Ala236Thr, XP_016871595.1:p.Ala236Thr, XP_016871594.1:p.Ala236Thr, XP_016871597.1:p.Ala236Thr, XP_016871596.1:p.Ala236Thr, XP_047281073.1:p.Ala236Thr, XP_047281075.1:p.Ala236Thr, XP_047281074.1:p.Ala236Thr

Select item 14818609524.

rs1481860952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:27743356 (GRCh38)
10:28032285 (GRCh37)
Canonical SPDI:: NC_000010.11:27743355:G:A
Gene:: MKX (Varview), MKX-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000010.11:g.27743356G>A, NC_000010.10:g.28032285G>A, NG_029181.1:g.7494C>T, NM_173576.3:c.60C>T, NM_173576.2:c.60C>T, NM_001242702.2:c.60C>T, NM_001242702.1:c.60C>T, XM_017016106.2:c.60C>T, XM_017016106.1:c.60C>T, XM_017016105.2:c.60C>T, XM_017016105.1:c.60C>T, XM_017016108.2:c.60C>T, XM_017016108.1:c.60C>T, XM_017016107.2:c.60C>T, XM_017016107.1:c.60C>T, XM_047425117.1:c.60C>T, XM_047425119.1:c.60C>T, XM_047425118.1:c.60C>T

Select item 14799031635.

rs1479903163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:27735260 (GRCh38)
10:28024189 (GRCh37)
Canonical SPDI:: NC_000010.11:27735259:C:T
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.27735260C>T, NC_000010.10:g.28024189C>T, NG_029181.1:g.15590G>A, NM_173576.3:c.463G>A, NM_173576.2:c.463G>A, NM_001242702.2:c.463G>A, NM_001242702.1:c.463G>A, XM_017016106.2:c.463G>A, XM_017016106.1:c.463G>A, XM_017016105.2:c.463G>A, XM_017016105.1:c.463G>A, XM_017016108.2:c.463G>A, XM_017016108.1:c.463G>A, XM_017016107.2:c.463G>A, XM_017016107.1:c.463G>A, XM_047425117.1:c.463G>A, XM_047425119.1:c.463G>A, XM_047425118.1:c.463G>A, NP_775847.2:p.Glu155Lys, NP_001229631.1:p.Glu155Lys, XP_016871595.1:p.Glu155Lys, XP_016871594.1:p.Glu155Lys, XP_016871597.1:p.Glu155Lys, XP_016871596.1:p.Glu155Lys, XP_047281073.1:p.Glu155Lys, XP_047281075.1:p.Glu155Lys, XP_047281074.1:p.Glu155Lys

Select item 14782122386.

rs1478212238 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:27734512 (GRCh38)
10:28023441 (GRCh37)
Canonical SPDI:: NC_000010.11:27734511:T:C
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000010.11:g.27734512T>C, NC_000010.10:g.28023441T>C, NG_029181.1:g.16338A>G, NM_173576.3:c.782A>G, NM_173576.2:c.782A>G, NM_001242702.2:c.782A>G, NM_001242702.1:c.782A>G, XM_017016106.2:c.782A>G, XM_017016106.1:c.782A>G, XM_017016105.2:c.782A>G, XM_017016105.1:c.782A>G, XM_017016108.2:c.782A>G, XM_017016108.1:c.782A>G, XM_017016107.2:c.782A>G, XM_017016107.1:c.782A>G, XM_047425117.1:c.782A>G, XM_047425119.1:c.782A>G, XM_047425118.1:c.782A>G, NP_775847.2:p.Glu261Gly, NP_001229631.1:p.Glu261Gly, XP_016871595.1:p.Glu261Gly, XP_016871594.1:p.Glu261Gly, XP_016871597.1:p.Glu261Gly, XP_016871596.1:p.Glu261Gly, XP_047281073.1:p.Glu261Gly, XP_047281075.1:p.Glu261Gly, XP_047281074.1:p.Glu261Gly

Select item 14781350137.

rs1478135013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:27734679 (GRCh38)
10:28023608 (GRCh37)
Canonical SPDI:: NC_000010.11:27734678:C:A
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.27734679C>A, NC_000010.10:g.28023608C>A, NG_029181.1:g.16171G>T, NM_173576.3:c.615G>T, NM_173576.2:c.615G>T, NM_001242702.2:c.615G>T, NM_001242702.1:c.615G>T, XM_017016106.2:c.615G>T, XM_017016106.1:c.615G>T, XM_017016105.2:c.615G>T, XM_017016105.1:c.615G>T, XM_017016108.2:c.615G>T, XM_017016108.1:c.615G>T, XM_017016107.2:c.615G>T, XM_017016107.1:c.615G>T, XM_047425117.1:c.615G>T, XM_047425119.1:c.615G>T, XM_047425118.1:c.615G>T, NP_775847.2:p.Glu205Asp, NP_001229631.1:p.Glu205Asp, XP_016871595.1:p.Glu205Asp, XP_016871594.1:p.Glu205Asp, XP_016871597.1:p.Glu205Asp, XP_016871596.1:p.Glu205Asp, XP_047281073.1:p.Glu205Asp, XP_047281075.1:p.Glu205Asp, XP_047281074.1:p.Glu205Asp

Select item 14772309688.

rs1477230968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:27743377 (GRCh38)
10:28032306 (GRCh37)
Canonical SPDI:: NC_000010.11:27743376:C:T
Gene:: MKX (Varview), MKX-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.27743377C>T, NC_000010.10:g.28032306C>T, NG_029181.1:g.7473G>A, NM_173576.3:c.39G>A, NM_173576.2:c.39G>A, NM_001242702.2:c.39G>A, NM_001242702.1:c.39G>A, XM_017016106.2:c.39G>A, XM_017016106.1:c.39G>A, XM_017016105.2:c.39G>A, XM_017016105.1:c.39G>A, XM_017016108.2:c.39G>A, XM_017016108.1:c.39G>A, XM_017016107.2:c.39G>A, XM_017016107.1:c.39G>A, XM_047425117.1:c.39G>A, XM_047425119.1:c.39G>A, XM_047425118.1:c.39G>A

Select item 14748554749.

rs1474855474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:27743232 (GRCh38)
10:28032161 (GRCh37)
Canonical SPDI:: NC_000010.11:27743231:T:A
Gene:: MKX (Varview), MKX-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000010.11:g.27743232T>A, NC_000010.10:g.28032161T>A, NG_029181.1:g.7618A>T, NM_173576.3:c.184A>T, NM_173576.2:c.184A>T, NM_001242702.2:c.184A>T, NM_001242702.1:c.184A>T, XM_017016106.2:c.184A>T, XM_017016106.1:c.184A>T, XM_017016105.2:c.184A>T, XM_017016105.1:c.184A>T, XM_017016108.2:c.184A>T, XM_017016108.1:c.184A>T, XM_017016107.2:c.184A>T, XM_017016107.1:c.184A>T, XM_047425117.1:c.184A>T, XM_047425119.1:c.184A>T, XM_047425118.1:c.184A>T, NP_775847.2:p.Thr62Ser, NP_001229631.1:p.Thr62Ser, XP_016871595.1:p.Thr62Ser, XP_016871594.1:p.Thr62Ser, XP_016871597.1:p.Thr62Ser, XP_016871596.1:p.Thr62Ser, XP_047281073.1:p.Thr62Ser, XP_047281075.1:p.Thr62Ser, XP_047281074.1:p.Thr62Ser

Select item 146619549710.

rs1466195497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:27734596 (GRCh38)
10:28023525 (GRCh37)
Canonical SPDI:: NC_000010.11:27734595:T:C
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.27734596T>C, NC_000010.10:g.28023525T>C, NG_029181.1:g.16254A>G, NM_173576.3:c.698A>G, NM_173576.2:c.698A>G, NM_001242702.2:c.698A>G, NM_001242702.1:c.698A>G, XM_017016106.2:c.698A>G, XM_017016106.1:c.698A>G, XM_017016105.2:c.698A>G, XM_017016105.1:c.698A>G, XM_017016108.2:c.698A>G, XM_017016108.1:c.698A>G, XM_017016107.2:c.698A>G, XM_017016107.1:c.698A>G, XM_047425117.1:c.698A>G, XM_047425119.1:c.698A>G, XM_047425118.1:c.698A>G, NP_775847.2:p.His233Arg, NP_001229631.1:p.His233Arg, XP_016871595.1:p.His233Arg, XP_016871594.1:p.His233Arg, XP_016871597.1:p.His233Arg, XP_016871596.1:p.His233Arg, XP_047281073.1:p.His233Arg, XP_047281075.1:p.His233Arg, XP_047281074.1:p.His233Arg

Select item 146338084011.

rs1463380840 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:27743374 (GRCh38)
10:28032303 (GRCh37)
Canonical SPDI:: NC_000010.11:27743373:C:
Gene:: MKX (Varview), MKX-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.27743374del, NC_000010.10:g.28032303del, NG_029181.1:g.7476del, NM_173576.3:c.42del, NM_173576.2:c.42del, NM_001242702.2:c.42del, NM_001242702.1:c.42del, XM_017016106.2:c.42del, XM_017016106.1:c.42del, XM_017016105.2:c.42del, XM_017016105.1:c.42del, XM_017016108.2:c.42del, XM_017016108.1:c.42del, XM_017016107.2:c.42del, XM_017016107.1:c.42del, XM_047425117.1:c.42del, XM_047425119.1:c.42del, XM_047425118.1:c.42del, NP_775847.2:p.Phe15fs, NP_001229631.1:p.Phe15fs, XP_016871595.1:p.Phe15fs, XP_016871594.1:p.Phe15fs, XP_016871597.1:p.Phe15fs, XP_016871596.1:p.Phe15fs, XP_047281073.1:p.Phe15fs, XP_047281075.1:p.Phe15fs, XP_047281074.1:p.Phe15fs

Select item 144970782512.

rs1449707825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:27718562 (GRCh38)
10:28007491 (GRCh37)
Canonical SPDI:: NC_000010.11:27718561:C:G,NC_000010.11:27718561:C:T
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.27718562C>G, NC_000010.11:g.27718562C>T, NC_000010.10:g.28007491C>G, NC_000010.10:g.28007491C>T, NG_029181.1:g.32288G>C, NG_029181.1:g.32288G>A, XM_017016107.2:c.873G>C, XM_017016107.2:c.873G>A, XM_017016107.1:c.873G>C, XM_017016107.1:c.873G>A, XM_047425118.1:c.873G>C, XM_047425118.1:c.873G>A, XP_016871596.1:p.Trp291Cys, XP_016871596.1:p.Trp291Ter, XP_047281074.1:p.Trp291Cys, XP_047281074.1:p.Trp291Ter

Select item 144805585113.

rs1448055851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:27741346 (GRCh38)
10:28030275 (GRCh37)
Canonical SPDI:: NC_000010.11:27741345:T:C
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.27741346T>C, NC_000010.10:g.28030275T>C, NG_029181.1:g.9504A>G, NM_173576.3:c.347A>G, NM_173576.2:c.347A>G, NM_001242702.2:c.347A>G, NM_001242702.1:c.347A>G, XM_017016106.2:c.347A>G, XM_017016106.1:c.347A>G, XM_017016105.2:c.347A>G, XM_017016105.1:c.347A>G, XM_017016108.2:c.347A>G, XM_017016108.1:c.347A>G, XM_017016107.2:c.347A>G, XM_017016107.1:c.347A>G, XM_047425117.1:c.347A>G, XM_047425119.1:c.347A>G, XM_047425118.1:c.347A>G, NP_775847.2:p.Gln116Arg, NP_001229631.1:p.Gln116Arg, XP_016871595.1:p.Gln116Arg, XP_016871594.1:p.Gln116Arg, XP_016871597.1:p.Gln116Arg, XP_016871596.1:p.Gln116Arg, XP_047281073.1:p.Gln116Arg, XP_047281075.1:p.Gln116Arg, XP_047281074.1:p.Gln116Arg

Select item 144553951014.

rs1445539510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:27734532 (GRCh38)
10:28023461 (GRCh37)
Canonical SPDI:: NC_000010.11:27734531:A:G
Gene:: MKX (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.27734532A>G, NC_000010.10:g.28023461A>G, NG_029181.1:g.16318T>C, NM_173576.3:c.762T>C, NM_173576.2:c.762T>C, NM_001242702.2:c.762T>C, NM_001242702.1:c.762T>C, XM_017016106.2:c.762T>C, XM_017016106.1:c.762T>C, XM_017016105.2:c.762T>C, XM_017016105.1:c.762T>C, XM_017016108.2:c.762T>C, XM_017016108.1:c.762T>C, XM_017016107.2:c.762T>C, XM_017016107.1:c.762T>C, XM_047425117.1:c.762T>C, XM_047425119.1:c.762T>C, XM_047425118.1:c.762T>C

Select item 143921989315.

rs1439219893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:27741458 (GRCh38)
10:28030387 (GRCh37)
Canonical SPDI:: NC_000010.11:27741457:G:T
Gene:: MKX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.27741458G>T, NC_000010.10:g.28030387G>T, NG_029181.1:g.9392C>A, NM_173576.3:c.235C>A, NM_173576.2:c.235C>A, NM_001242702.2:c.235C>A, NM_001242702.1:c.235C>A, XM_017016106.2:c.235C>A, XM_017016106.1:c.235C>A, XM_017016105.2:c.235C>A, XM_017016105.1:c.235C>A, XM_017016108.2:c.235C>A, XM_017016108.1:c.235C>A, XM_017016107.2:c.235C>A, XM_017016107.1:c.235C>A, XM_047425117.1:c.235C>A, XM_047425119.1:c.235C>A, XM_047425118.1:c.235C>A, NP_775847.2:p.Gln79Lys, NP_001229631.1:p.Gln79Lys, XP_016871595.1:p.Gln79Lys, XP_016871594.1:p.Gln79Lys, XP_016871597.1:p.Gln79Lys, XP_016871596.1:p.Gln79Lys, XP_047281073.1:p.Gln79Lys, XP_047281075.1:p.Gln79Lys, XP_047281074.1:p.Gln79Lys

Select item 143817809016.

rs1438178090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:27741437 (GRCh38)
10:28030366 (GRCh37)
Canonical SPDI:: NC_000010.11:27741436:T:G
Gene:: MKX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.27741437T>G, NC_000010.10:g.28030366T>G, NG_029181.1:g.9413A>C, NM_173576.3:c.256A>C, NM_173576.2:c.256A>C, NM_001242702.2:c.256A>C, NM_001242702.1:c.256A>C, XM_017016106.2:c.256A>C, XM_017016106.1:c.256A>C, XM_017016105.2:c.256A>C, XM_017016105.1:c.256A>C, XM_017016108.2:c.256A>C, XM_017016108.1:c.256A>C, XM_017016107.2:c.256A>C, XM_017016107.1:c.256A>C, XM_047425117.1:c.256A>C, XM_047425119.1:c.256A>C, XM_047425118.1:c.256A>C, NP_775847.2:p.Lys86Gln, NP_001229631.1:p.Lys86Gln, XP_016871595.1:p.Lys86Gln, XP_016871594.1:p.Lys86Gln, XP_016871597.1:p.Lys86Gln, XP_016871596.1:p.Lys86Gln, XP_047281073.1:p.Lys86Gln, XP_047281075.1:p.Lys86Gln, XP_047281074.1:p.Lys86Gln

Select item 143633466117.

rs1436334661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:27734482 (GRCh38)
10:28023411 (GRCh37)
Canonical SPDI:: NC_000010.11:27734481:G:A
Gene:: MKX (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000010.11:g.27734482G>A, NC_000010.10:g.28023411G>A, NG_029181.1:g.16368C>T, NM_173576.3:c.812C>T, NM_173576.2:c.812C>T, NM_001242702.2:c.812C>T, NM_001242702.1:c.812C>T, XM_017016106.2:c.812C>T, XM_017016106.1:c.812C>T, XM_017016105.2:c.812C>T, XM_017016105.1:c.812C>T, XM_017016108.2:c.812C>T, XM_017016108.1:c.812C>T, XM_017016107.2:c.812C>T, XM_017016107.1:c.812C>T, XM_047425117.1:c.812C>T, XM_047425119.1:c.812C>T, XM_047425118.1:c.812C>T, NP_775847.2:p.Thr271Ile, NP_001229631.1:p.Thr271Ile, XP_016871595.1:p.Thr271Ile, XP_016871594.1:p.Thr271Ile, XP_016871597.1:p.Thr271Ile, XP_016871596.1:p.Thr271Ile, XP_047281073.1:p.Thr271Ile, XP_047281075.1:p.Thr271Ile, XP_047281074.1:p.Thr271Ile

Select item 143589100018.

rs1435891000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:27743240 (GRCh38)
10:28032169 (GRCh37)
Canonical SPDI:: NC_000010.11:27743239:T:G
Gene:: MKX (Varview), MKX-AS1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.27743240T>G, NC_000010.10:g.28032169T>G, NG_029181.1:g.7610A>C, NM_173576.3:c.176A>C, NM_173576.2:c.176A>C, NM_001242702.2:c.176A>C, NM_001242702.1:c.176A>C, XM_017016106.2:c.176A>C, XM_017016106.1:c.176A>C, XM_017016105.2:c.176A>C, XM_017016105.1:c.176A>C, XM_017016108.2:c.176A>C, XM_017016108.1:c.176A>C, XM_017016107.2:c.176A>C, XM_017016107.1:c.176A>C, XM_047425117.1:c.176A>C, XM_047425119.1:c.176A>C, XM_047425118.1:c.176A>C, NP_775847.2:p.His59Pro, NP_001229631.1:p.His59Pro, XP_016871595.1:p.His59Pro, XP_016871594.1:p.His59Pro, XP_016871597.1:p.His59Pro, XP_016871596.1:p.His59Pro, XP_047281073.1:p.His59Pro, XP_047281075.1:p.His59Pro, XP_047281074.1:p.His59Pro

Select item 142580817819.

rs1425808178 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGT>- [Show Flanks]
Chromosome:: 10:27735284 (GRCh38)
10:28024213 (GRCh37)
Canonical SPDI:: NC_000010.11:27735279:TTGTTGT:TTGT
Gene:: MKX (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGT=0./0 (ALFA)
-=0.000012/3 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.27735281TGT[1], NC_000010.10:g.28024210TGT[1], NG_029181.1:g.15565CAA[1], NM_173576.3:c.438CAA[1], NM_173576.2:c.438CAA[1], NM_001242702.2:c.438CAA[1], NM_001242702.1:c.438CAA[1], XM_017016106.2:c.438CAA[1], XM_017016106.1:c.438CAA[1], XM_017016105.2:c.438CAA[1], XM_017016105.1:c.438CAA[1], XM_017016108.2:c.438CAA[1], XM_017016108.1:c.438CAA[1], XM_017016107.2:c.438CAA[1], XM_017016107.1:c.438CAA[1], XM_047425117.1:c.438CAA[1], XM_047425119.1:c.438CAA[1], XM_047425118.1:c.438CAA[1], NP_775847.2:p.Asn147del, NP_001229631.1:p.Asn147del, XP_016871595.1:p.Asn147del, XP_016871594.1:p.Asn147del, XP_016871597.1:p.Asn147del, XP_016871596.1:p.Asn147del, XP_047281073.1:p.Asn147del, XP_047281075.1:p.Asn147del, XP_047281074.1:p.Asn147del

Select item 142308575320.

rs1423085753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:27734599 (GRCh38)
10:28023528 (GRCh37)
Canonical SPDI:: NC_000010.11:27734598:C:T
Gene:: MKX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.27734599C>T, NC_000010.10:g.28023528C>T, NG_029181.1:g.16251G>A, NM_173576.3:c.695G>A, NM_173576.2:c.695G>A, NM_001242702.2:c.695G>A, NM_001242702.1:c.695G>A, XM_017016106.2:c.695G>A, XM_017016106.1:c.695G>A, XM_017016105.2:c.695G>A, XM_017016105.1:c.695G>A, XM_017016108.2:c.695G>A, XM_017016108.1:c.695G>A, XM_017016107.2:c.695G>A, XM_017016107.1:c.695G>A, XM_047425117.1:c.695G>A, XM_047425119.1:c.695G>A, XM_047425118.1:c.695G>A, NP_775847.2:p.Arg232Lys, NP_001229631.1:p.Arg232Lys, XP_016871595.1:p.Arg232Lys, XP_016871594.1:p.Arg232Lys, XP_016871597.1:p.Arg232Lys, XP_016871596.1:p.Arg232Lys, XP_047281073.1:p.Arg232Lys, XP_047281075.1:p.Arg232Lys, XP_047281074.1:p.Arg232Lys

dbSNP

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Result Filters

Clinical Significance

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Items: 1 to 20 of 293

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