SNP Links for Protein (Select 134142824) - SNP

Links from Protein

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Select item 14881486251.

rs1488148625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47438827 (GRCh38)
1:47904499 (GRCh37)
Canonical SPDI:: NC_000001.11:47438826:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_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_000001.11:g.47438827C>T, NC_000001.10:g.47904499C>T, NM_004474.4:c.692C>T, NM_004474.3:c.692C>T, NP_004465.3:p.Pro231Leu

Select item 14876534882.

rs1487653488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47439347 (GRCh38)
1:47905019 (GRCh37)
Canonical SPDI:: NC_000001.11:47439346:C:T
Gene:: FOXD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.47439347C>T, NC_000001.10:g.47905019C>T, NM_004474.4:c.1212C>T, NM_004474.3:c.1212C>T

Select item 14873248413.

rs1487324841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:47439165 (GRCh38)
1:47904837 (GRCh37)
Canonical SPDI:: NC_000001.11:47439164:G:A,NC_000001.11:47439164:G:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_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_000001.11:g.47439165G>A, NC_000001.11:g.47439165G>T, NC_000001.10:g.47904837G>A, NC_000001.10:g.47904837G>T, NM_004474.4:c.1030G>A, NM_004474.4:c.1030G>T, NM_004474.3:c.1030G>A, NM_004474.3:c.1030G>T, NP_004465.3:p.Gly344Ser, NP_004465.3:p.Gly344Cys

Select item 14866411824.

rs1486641182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACGC [Show Flanks]
Chromosome:: 1:47439009 (GRCh38)
1:47904682 (GRCh37)
Canonical SPDI:: NC_000001.11:47439009:CGCACGC:CGCACGCGCACGC
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: inframe_insertion,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCACGCGCACGC=0.000084/1 (ALFA)
CGCACG=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.47439011_47439016dup, NC_000001.10:g.47904683_47904688dup, NM_004474.4:c.876_881dup, NM_004474.3:c.876_881dup, NP_004465.3:p.His293_Ala294dup

Select item 14864404645.

rs1486440464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:47438443 (GRCh38)
1:47904115 (GRCh37)
Canonical SPDI:: NC_000001.11:47438442:C:A,NC_000001.11:47438442:C:G
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.47438443C>A, NC_000001.11:g.47438443C>G, NC_000001.10:g.47904115C>A, NC_000001.10:g.47904115C>G, NM_004474.4:c.308C>A, NM_004474.4:c.308C>G, NM_004474.3:c.308C>A, NM_004474.3:c.308C>G, NP_004465.3:p.Ala103Glu, NP_004465.3:p.Ala103Gly

Select item 14860927716.

rs1486092771 has merged into rs932787067 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGCCCGGGCCC>-,GGGCCC,GGGCCCGGGCCCGGGCCC [Show Flanks]
Chromosome:: 1:47439170 (GRCh38)
1:47904842 (GRCh37)
Canonical SPDI:: NC_000001.11:47439162:CGGGCCCGGGCCCGGGCCC:CGGGCCC,NC_000001.11:47439162:CGGGCCCGGGCCCGGGCCC:CGGGCCCGGGCCC,NC_000001.11:47439162:CGGGCCCGGGCCCGGGCCC:CGGGCCCGGGCCCGGGCCCGGGCCC
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,inframe_deletion,upstream_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CGGGCCCGGGCCCGGGCCCGGGCCC=0./0 (ALFA)
CGGGCC=0.00005/7 (GnomAD)
CGGGCC=0.000212/4 (TOMMO)
CGGGCC=0.000468/3 (1000Genomes)
HGVS:: NC_000001.11:g.47439164GGGCCC[1], NC_000001.11:g.47439164GGGCCC[2], NC_000001.11:g.47439164GGGCCC[4], NC_000001.10:g.47904836GGGCCC[1], NC_000001.10:g.47904836GGGCCC[2], NC_000001.10:g.47904836GGGCCC[4], NM_004474.4:c.1029GGGCCC[1], NM_004474.4:c.1029GGGCCC[2], NM_004474.4:c.1029GGGCCC[4], NM_004474.3:c.1029GGGCCC[1], NM_004474.3:c.1029GGGCCC[2], NM_004474.3:c.1029GGGCCC[4], NP_004465.3:p.344GP[1], NP_004465.3:p.344GP[2], NP_004465.3:p.344GP[4]

Select item 14856889207.

rs1485688920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:47438879 (GRCh38)
1:47904551 (GRCh37)
Canonical SPDI:: NC_000001.11:47438878:G:A
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47438879G>A, NC_000001.10:g.47904551G>A, NM_004474.4:c.744G>A, NM_004474.3:c.744G>A

Select item 14839334658.

rs1483933465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:47439416 (GRCh38)
1:47905088 (GRCh37)
Canonical SPDI:: NC_000001.11:47439415:C:A,NC_000001.11:47439415:C:T
Gene:: FOXD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.47439416C>A, NC_000001.11:g.47439416C>T, NC_000001.10:g.47905088C>A, NC_000001.10:g.47905088C>T, NM_004474.4:c.1281C>A, NM_004474.4:c.1281C>T, NM_004474.3:c.1281C>A, NM_004474.3:c.1281C>T

Select item 14821969219.

rs1482196921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47438740 (GRCh38)
1:47904412 (GRCh37)
Canonical SPDI:: NC_000001.11:47438739:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47438740C>T, NC_000001.10:g.47904412C>T, NM_004474.4:c.605C>T, NM_004474.3:c.605C>T, NP_004465.3:p.Thr202Met

Select item 148156517510.

rs1481565175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47438440 (GRCh38)
1:47904112 (GRCh37)
Canonical SPDI:: NC_000001.11:47438439:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.47438440C>T, NC_000001.10:g.47904112C>T, NM_004474.4:c.305C>T, NM_004474.3:c.305C>T, NP_004465.3:p.Ala102Val

Select item 148123727111.

rs1481237271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:47439250 (GRCh38)
1:47904922 (GRCh37)
Canonical SPDI:: NC_000001.11:47439249:G:A
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47439250G>A, NC_000001.10:g.47904922G>A, NM_004474.4:c.1115G>A, NM_004474.3:c.1115G>A, NP_004465.3:p.Ser372Asn

Select item 148102277112.

rs1481022771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:47438567 (GRCh38)
1:47904239 (GRCh37)
Canonical SPDI:: NC_000001.11:47438566:C:G,NC_000001.11:47438566:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.47438567C>G, NC_000001.11:g.47438567C>T, NC_000001.10:g.47904239C>G, NC_000001.10:g.47904239C>T, NM_004474.4:c.432C>G, NM_004474.4:c.432C>T, NM_004474.3:c.432C>G, NM_004474.3:c.432C>T

Select item 147835914213.

rs1478359142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:47439503 (GRCh38)
1:47905175 (GRCh37)
Canonical SPDI:: NC_000001.11:47439502:T:C
Gene:: FOXD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47439503T>C, NC_000001.10:g.47905175T>C, NM_004474.4:c.1368T>C, NM_004474.3:c.1368T>C

Select item 147690934414.

rs1476909344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:47439122 (GRCh38)
1:47904794 (GRCh37)
Canonical SPDI:: NC_000001.11:47439121:A:C
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000054/4 (GnomAD_exomes)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.47439122A>C, NC_000001.10:g.47904794A>C, NM_004474.4:c.987A>C, NM_004474.3:c.987A>C

Select item 147639358515.

rs1476393585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47439020 (GRCh38)
1:47904692 (GRCh37)
Canonical SPDI:: NC_000001.11:47439019:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000032/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47439020C>T, NC_000001.10:g.47904692C>T, NM_004474.4:c.885C>T, NM_004474.3:c.885C>T

Select item 147590232316.

rs1475902323 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47438783 (GRCh38)
1:47904455 (GRCh37)
Canonical SPDI:: NC_000001.11:47438782:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_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_000001.11:g.47438783C>T, NC_000001.10:g.47904455C>T, NM_004474.4:c.648C>T, NM_004474.3:c.648C>T

Select item 147527636217.

rs1475276362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47438824 (GRCh38)
1:47904496 (GRCh37)
Canonical SPDI:: NC_000001.11:47438823:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47438824C>T, NC_000001.10:g.47904496C>T, NM_004474.4:c.689C>T, NM_004474.3:c.689C>T, NP_004465.3:p.Pro230Leu

Select item 147516207118.

rs1475162071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:47439175 (GRCh38)
1:47904847 (GRCh37)
Canonical SPDI:: NC_000001.11:47439174:C:G,NC_000001.11:47439174:C:T
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.47439175C>G, NC_000001.11:g.47439175C>T, NC_000001.10:g.47904847C>G, NC_000001.10:g.47904847C>T, NM_004474.4:c.1040C>G, NM_004474.4:c.1040C>T, NM_004474.3:c.1040C>G, NM_004474.3:c.1040C>T, NP_004465.3:p.Pro347Arg, NP_004465.3:p.Pro347Leu

Select item 147488632319.

rs1474886323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:47438819 (GRCh38)
1:47904491 (GRCh37)
Canonical SPDI:: NC_000001.11:47438818:G:C
Gene:: FOXD2 (Varview), LINC01389 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47438819G>C, NC_000001.10:g.47904491G>C, NM_004474.4:c.684G>C, NM_004474.3:c.684G>C

Select item 147339847920.

rs1473398479 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACATTCGCC>- [Show Flanks]
Chromosome:: 1:47439532 (GRCh38)
1:47905204 (GRCh37)
Canonical SPDI:: NC_000001.11:47439528:GCCACATTCGCC:GCC
Gene:: FOXD2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCC=0./0 (ALFA)
HGVS:: NC_000001.11:g.47439532_47439540del, NC_000001.10:g.47905204_47905212del, NM_004474.4:c.1397_1405del, NM_004474.3:c.1397_1405del, NP_004465.3:p.His466_Arg468del

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