SNP Links for Protein (Select 1034573130) - SNP

Links from Protein

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Select item 14896416961.

rs1489641696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118979054 (GRCh38)
11:118849764 (GRCh37)
Canonical SPDI:: NC_000011.10:118979053:C:T
Gene:: FOXR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.118979054C>T, NC_000011.9:g.118849764C>T, NW_009646203.1:g.654C>T, NW_003871076.1:g.654C>T, NM_181721.3:c.234C>T, NM_181721.2:c.234C>T, XM_017017575.2:c.234C>T, XM_017017575.1:c.234C>T, XM_017017576.2:c.234C>T, XM_017017576.1:c.234C>T, XM_047426801.1:c.234C>T

Select item 14892288612.

rs1489228861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118979141 (GRCh38)
11:118849851 (GRCh37)
Canonical SPDI:: NC_000011.10:118979140:C:T
Gene:: FOXR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118979141C>T, NC_000011.9:g.118849851C>T, NW_009646203.1:g.741C>T, NW_003871076.1:g.741C>T, NM_181721.3:c.321C>T, NM_181721.2:c.321C>T, XM_017017575.2:c.321C>T, XM_017017575.1:c.321C>T, XM_017017576.2:c.321C>T, XM_017017576.1:c.321C>T, XM_047426801.1:c.321C>T

Select item 14878530583.

rs1487853058 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:118979630 (GRCh38)
11:118850340 (GRCh37)
Canonical SPDI:: NC_000011.10:118979629:CT:
Gene:: FOXR1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118979630_118979631del, NC_000011.9:g.118850340_118850341del, NW_009646203.1:g.1230_1231del, NW_003871076.1:g.1230_1231del, NM_181721.3:c.573_574del, NM_181721.2:c.573_574del, XM_017017575.2:c.573_574del, XM_017017575.1:c.573_574del, XM_017017576.2:c.573_574del, XM_017017576.1:c.573_574del, NP_859072.1:p.Cys192fs, XP_016873064.1:p.Cys192fs, XP_016873065.1:p.Cys192fs

Select item 14816574544.

rs1481657454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118971937 (GRCh38)
11:118842647 (GRCh37)
Canonical SPDI:: NC_000011.10:118971936:G:A
Gene:: FOXR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.118971937G>A, NC_000011.9:g.118842647G>A, NM_181721.3:c.6G>A, NM_181721.2:c.6G>A, XM_017017575.2:c.6G>A, XM_017017575.1:c.6G>A, XM_017017576.2:c.6G>A, XM_017017576.1:c.6G>A, XM_047426801.1:c.6G>A

Select item 14792227125.

rs1479222712 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118978959 (GRCh38)
11:118849669 (GRCh37)
Canonical SPDI:: NC_000011.10:118978958:C:T
Gene:: FOXR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.118978959C>T, NC_000011.9:g.118849669C>T, NW_009646203.1:g.559C>T, NW_003871076.1:g.559C>T, NM_181721.3:c.139C>T, NM_181721.2:c.139C>T, XM_017017575.2:c.139C>T, XM_017017575.1:c.139C>T, XM_017017576.2:c.139C>T, XM_017017576.1:c.139C>T, XM_047426801.1:c.139C>T, NP_859072.1:p.Pro47Ser, XP_016873064.1:p.Pro47Ser, XP_016873065.1:p.Pro47Ser, XP_047282757.1:p.Pro47Ser

Select item 14770972056.

rs1477097205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118979524 (GRCh38)
11:118850234 (GRCh37)
Canonical SPDI:: NC_000011.10:118979523:A:G
Gene:: FOXR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.118979524A>G, NC_000011.9:g.118850234A>G, NW_009646203.1:g.1124A>G, NW_003871076.1:g.1124A>G, NM_181721.3:c.467A>G, NM_181721.2:c.467A>G, XM_017017575.2:c.467A>G, XM_017017575.1:c.467A>G, XM_017017576.2:c.467A>G, XM_017017576.1:c.467A>G, NP_859072.1:p.Gln156Arg, XP_016873064.1:p.Gln156Arg, XP_016873065.1:p.Gln156Arg

Select item 14764825897.

rs1476482589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:118979623 (GRCh38)
11:118850333 (GRCh37)
Canonical SPDI:: NC_000011.10:118979622:G:C
Gene:: FOXR1 (Varview)
Functional Consequence:: intron_variant,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_000011.10:g.118979623G>C, NC_000011.9:g.118850333G>C, NW_009646203.1:g.1223G>C, NW_003871076.1:g.1223G>C, NM_181721.3:c.566G>C, NM_181721.2:c.566G>C, XM_017017575.2:c.566G>C, XM_017017575.1:c.566G>C, XM_017017576.2:c.566G>C, XM_017017576.1:c.566G>C, NP_859072.1:p.Ser189Thr, XP_016873064.1:p.Ser189Thr, XP_016873065.1:p.Ser189Thr

Select item 14753010828.

rs1475301082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118979634 (GRCh38)
11:118850344 (GRCh37)
Canonical SPDI:: NC_000011.10:118979633:G:A
Gene:: FOXR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118979634G>A, NC_000011.9:g.118850344G>A, NW_009646203.1:g.1234G>A, NW_003871076.1:g.1234G>A, NM_181721.3:c.577G>A, NM_181721.2:c.577G>A, XM_017017575.2:c.577G>A, XM_017017575.1:c.577G>A, XM_017017576.2:c.577G>A, XM_017017576.1:c.577G>A, NP_859072.1:p.Gly193Ser, XP_016873064.1:p.Gly193Ser, XP_016873065.1:p.Gly193Ser

Select item 14737635179.

rs1473763517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:118980744 (GRCh38)
11:118851454 (GRCh37)
Canonical SPDI:: NC_000011.10:118980743:G:T
Gene:: FOXR1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118980744G>T, NC_000011.9:g.118851454G>T, NW_009646203.1:g.2344G>T, NW_003871076.1:g.2344G>T, XM_017017576.2:c.788G>T, XM_017017576.1:c.788G>T, XM_017017575.2:c.866G>T, XM_017017575.1:c.866G>T, XP_016873065.1:p.Cys263Phe, XP_016873064.1:p.Cys289Phe

Select item 146702341410.

rs1467023414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118980685 (GRCh38)
11:118851395 (GRCh37)
Canonical SPDI:: NC_000011.10:118980684:T:C
Gene:: FOXR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118980685T>C, NC_000011.9:g.118851395T>C, NW_009646203.1:g.2285T>C, NW_003871076.1:g.2285T>C, NM_181721.3:c.807T>C, NM_181721.2:c.807T>C, XM_017017575.2:c.807T>C, XM_017017575.1:c.807T>C, XM_017017576.2:c.729T>C, XM_017017576.1:c.729T>C

Select item 146555277011.

rs1465552770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118979587 (GRCh38)
11:118850297 (GRCh37)
Canonical SPDI:: NC_000011.10:118979586:A:G
Gene:: FOXR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.118979587A>G, NC_000011.9:g.118850297A>G, NW_009646203.1:g.1187A>G, NW_003871076.1:g.1187A>G, NM_181721.3:c.530A>G, NM_181721.2:c.530A>G, XM_017017575.2:c.530A>G, XM_017017575.1:c.530A>G, XM_017017576.2:c.530A>G, XM_017017576.1:c.530A>G, NP_859072.1:p.Asn177Ser, XP_016873064.1:p.Asn177Ser, XP_016873065.1:p.Asn177Ser

Select item 146301048312.

rs1463010483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118978853 (GRCh38)
11:118849563 (GRCh37)
Canonical SPDI:: NC_000011.10:118978852:G:A
Gene:: FOXR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000068/3 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.118978853G>A, NC_000011.9:g.118849563G>A, NW_009646203.1:g.453G>A, NW_003871076.1:g.453G>A, NM_181721.3:c.133G>A, NM_181721.2:c.133G>A, XM_017017575.2:c.133G>A, XM_017017575.1:c.133G>A, XM_017017576.2:c.133G>A, XM_017017576.1:c.133G>A, XM_047426801.1:c.133G>A, NP_859072.1:p.Asp45Asn, XP_016873064.1:p.Asp45Asn, XP_016873065.1:p.Asp45Asn, XP_047282757.1:p.Asp45Asn

Select item 146239599113.

rs1462395991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118979077 (GRCh38)
11:118849787 (GRCh37)
Canonical SPDI:: NC_000011.10:118979076:C:T
Gene:: FOXR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118979077C>T, NC_000011.9:g.118849787C>T, NW_009646203.1:g.677C>T, NW_003871076.1:g.677C>T, NM_181721.3:c.257C>T, NM_181721.2:c.257C>T, XM_017017575.2:c.257C>T, XM_017017575.1:c.257C>T, XM_017017576.2:c.257C>T, XM_017017576.1:c.257C>T, XM_047426801.1:c.257C>T, NP_859072.1:p.Ser86Phe, XP_016873064.1:p.Ser86Phe, XP_016873065.1:p.Ser86Phe, XP_047282757.1:p.Ser86Phe

Select item 146155530814.

rs1461555308 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAAGAA,GAAGAAT [Show Flanks]
Chromosome:: 11:118980539 (GRCh38)
11:118851250 (GRCh37)
Canonical SPDI:: NC_000011.10:118980539::GAAGAA,NC_000011.10:118980539::GAAGAAT
Gene:: FOXR1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,inframe_indel,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGAAT=0./0 (ALFA)
GAAGAA=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118980539_118980540insGAAGAA, NC_000011.10:g.118980539_118980540insGAAGAAT, NC_000011.9:g.118851249_118851250insGAAGAA, NC_000011.9:g.118851249_118851250insGAAGAAT, NW_009646203.1:g.2139_2140insGAAGAA, NW_009646203.1:g.2139_2140insGAAGAAT, NW_003871076.1:g.2139_2140insGAAGAA, NW_003871076.1:g.2139_2140insGAAGAAT, NM_181721.3:c.661_662insGAAGAA, NM_181721.3:c.661_662insGAAGAAT, NM_181721.2:c.661_662insGAAGAA, NM_181721.2:c.661_662insGAAGAAT, XM_017017575.2:c.661_662insGAAGAA, XM_017017575.2:c.661_662insGAAGAAT, XM_017017575.1:c.661_662insGAAGAA, XM_017017575.1:c.661_662insGAAGAAT, XM_047426801.1:c.434_435insGAAGAA, XM_047426801.1:c.434_435insGAAGAAT, NP_859072.1:p.Val221delinsGlyArgIle, NP_859072.1:p.Val221fs, XP_016873064.1:p.Val221delinsGlyArgIle, XP_016873064.1:p.Val221fs, XP_047282757.1:p.Cys145delinsTrpLysAsn, XP_047282757.1:p.Cys145fs

Select item 145184951215.

rs1451849512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:118979166 (GRCh38)
11:118849876 (GRCh37)
Canonical SPDI:: NC_000011.10:118979165:C:A,NC_000011.10:118979165:C:G,NC_000011.10:118979165:C:T
Gene:: FOXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000011.10:g.118979166C>A, NC_000011.10:g.118979166C>G, NC_000011.10:g.118979166C>T, NC_000011.9:g.118849876C>A, NC_000011.9:g.118849876C>G, NC_000011.9:g.118849876C>T, NW_009646203.1:g.766C>A, NW_009646203.1:g.766C>G, NW_009646203.1:g.766C>T, NW_003871076.1:g.766C>A, NW_003871076.1:g.766C>G, NW_003871076.1:g.766C>T, NM_181721.3:c.346C>A, NM_181721.3:c.346C>G, NM_181721.3:c.346C>T, NM_181721.2:c.346C>A, NM_181721.2:c.346C>G, NM_181721.2:c.346C>T, XM_017017575.2:c.346C>A, XM_017017575.2:c.346C>G, XM_017017575.2:c.346C>T, XM_017017575.1:c.346C>A, XM_017017575.1:c.346C>G, XM_017017575.1:c.346C>T, XM_017017576.2:c.346C>A, XM_017017576.2:c.346C>G, XM_017017576.2:c.346C>T, XM_017017576.1:c.346C>A, XM_017017576.1:c.346C>G, XM_017017576.1:c.346C>T, XM_047426801.1:c.346C>A, XM_047426801.1:c.346C>G, XM_047426801.1:c.346C>T, NP_859072.1:p.Pro116Thr, NP_859072.1:p.Pro116Ala, NP_859072.1:p.Pro116Ser, XP_016873064.1:p.Pro116Thr, XP_016873064.1:p.Pro116Ala, XP_016873064.1:p.Pro116Ser, XP_016873065.1:p.Pro116Thr, XP_016873065.1:p.Pro116Ala, XP_016873065.1:p.Pro116Ser, XP_047282757.1:p.Pro116Thr, XP_047282757.1:p.Pro116Ala, XP_047282757.1:p.Pro116Ser

Select item 145025084816.

rs1450250848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118978813 (GRCh38)
11:118849523 (GRCh37)
Canonical SPDI:: NC_000011.10:118978812:A:G
Gene:: FOXR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118978813A>G, NC_000011.9:g.118849523A>G, NW_009646203.1:g.413A>G, NW_003871076.1:g.413A>G, NM_181721.3:c.93A>G, NM_181721.2:c.93A>G, XM_017017575.2:c.93A>G, XM_017017575.1:c.93A>G, XM_017017576.2:c.93A>G, XM_017017576.1:c.93A>G, XM_047426801.1:c.93A>G

Select item 144468677617.

rs1444686776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:118978795 (GRCh38)
11:118849505 (GRCh37)
Canonical SPDI:: NC_000011.10:118978794:A:T
Gene:: FOXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118978795A>T, NC_000011.9:g.118849505A>T, NW_009646203.1:g.395A>T, NW_003871076.1:g.395A>T, NM_181721.3:c.75A>T, NM_181721.2:c.75A>T, XM_017017575.2:c.75A>T, XM_017017575.1:c.75A>T, XM_017017576.2:c.75A>T, XM_017017576.1:c.75A>T, XM_047426801.1:c.75A>T, NP_859072.1:p.Lys25Asn, XP_016873064.1:p.Lys25Asn, XP_016873065.1:p.Lys25Asn, XP_047282757.1:p.Lys25Asn

Select item 144404929118.

rs1444049291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:118979161 (GRCh38)
11:118849871 (GRCh37)
Canonical SPDI:: NC_000011.10:118979160:C:G,NC_000011.10:118979160:C:T
Gene:: FOXR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118979161C>G, NC_000011.10:g.118979161C>T, NC_000011.9:g.118849871C>G, NC_000011.9:g.118849871C>T, NW_009646203.1:g.761C>G, NW_009646203.1:g.761C>T, NW_003871076.1:g.761C>G, NW_003871076.1:g.761C>T, NM_181721.3:c.341C>G, NM_181721.3:c.341C>T, NM_181721.2:c.341C>G, NM_181721.2:c.341C>T, XM_017017575.2:c.341C>G, XM_017017575.2:c.341C>T, XM_017017575.1:c.341C>G, XM_017017575.1:c.341C>T, XM_017017576.2:c.341C>G, XM_017017576.2:c.341C>T, XM_017017576.1:c.341C>G, XM_017017576.1:c.341C>T, XM_047426801.1:c.341C>G, XM_047426801.1:c.341C>T, NP_859072.1:p.Ser114Cys, NP_859072.1:p.Ser114Phe, XP_016873064.1:p.Ser114Cys, XP_016873064.1:p.Ser114Phe, XP_016873065.1:p.Ser114Cys, XP_016873065.1:p.Ser114Phe, XP_047282757.1:p.Ser114Cys, XP_047282757.1:p.Ser114Phe

Select item 144166361119.

rs1441663611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118978814 (GRCh38)
11:118849524 (GRCh37)
Canonical SPDI:: NC_000011.10:118978813:C:T
Gene:: FOXR1 (Varview)
Functional Consequence:: missense_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_000011.10:g.118978814C>T, NC_000011.9:g.118849524C>T, NW_009646203.1:g.414C>T, NW_003871076.1:g.414C>T, NM_181721.3:c.94C>T, NM_181721.2:c.94C>T, XM_017017575.2:c.94C>T, XM_017017575.1:c.94C>T, XM_017017576.2:c.94C>T, XM_017017576.1:c.94C>T, XM_047426801.1:c.94C>T, NP_859072.1:p.Pro32Ser, XP_016873064.1:p.Pro32Ser, XP_016873065.1:p.Pro32Ser, XP_047282757.1:p.Pro32Ser

Select item 143960749420.

rs1439607494 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:118979515 (GRCh38)
11:118850225 (GRCh37)
Canonical SPDI:: NC_000011.10:118979514:CCCCCC:CCCCC
Gene:: FOXR1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118979520del, NC_000011.9:g.118850230del, NW_009646203.1:g.1120del, NW_003871076.1:g.1120del, NM_181721.3:c.463del, NM_181721.2:c.463del, XM_017017575.2:c.463del, XM_017017575.1:c.463del, XM_017017576.2:c.463del, XM_017017576.1:c.463del, NP_859072.1:p.Leu155fs, XP_016873064.1:p.Leu155fs, XP_016873065.1:p.Leu155fs

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