SNP Links for Protein (Select 767983981) - SNP

Links from Protein

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Select item 14900728631.

rs1490072863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:33154306 (GRCh38)
15:33446507 (GRCh37)
Canonical SPDI:: NC_000015.10:33154305:A:G
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.33154306A>G, NC_000015.9:g.33446507A>G, NG_042863.1:g.45428T>C, NM_001277313.2:c.609T>C, NM_001277313.1:c.609T>C, NM_001277314.2:c.609T>C, NM_001277314.1:c.609T>C, XM_011521504.4:c.609T>C, XM_011521504.3:c.609T>C, XM_011521504.2:c.609T>C, XM_011521504.1:c.609T>C, XM_011521507.3:c.609T>C, XM_011521507.2:c.609T>C, XM_011521507.1:c.609T>C, XM_011521505.3:c.609T>C, XM_011521505.2:c.609T>C, XM_011521505.1:c.609T>C, XM_017022131.2:c.609T>C, XM_017022131.1:c.609T>C, XM_047432436.1:c.609T>C, XM_047432440.1:c.-1046T>C, XM_047432437.1:c.609T>C

Select item 14897024012.

rs1489702401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:33153309 (GRCh38)
15:33445510 (GRCh37)
Canonical SPDI:: NC_000015.10:33153308:T:C
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.33153309T>C, NC_000015.9:g.33445510T>C, NG_042863.1:g.46425A>G, NM_001277313.2:c.1606A>G, NM_001277313.1:c.1606A>G, NM_001277314.2:c.1606A>G, NM_001277314.1:c.1606A>G, XM_011521504.4:c.1606A>G, XM_011521504.3:c.1606A>G, XM_011521504.2:c.1606A>G, XM_011521504.1:c.1606A>G, XM_011521507.3:c.1606A>G, XM_011521507.2:c.1606A>G, XM_011521507.1:c.1606A>G, XM_011521505.3:c.1606A>G, XM_011521505.2:c.1606A>G, XM_011521505.1:c.1606A>G, XM_017022131.2:c.1606A>G, XM_017022131.1:c.1606A>G, XM_047432436.1:c.1606A>G, XM_047432440.1:c.-49A>G, XM_047432437.1:c.1606A>G, NP_001264242.1:p.Arg536Gly, NP_001264243.1:p.Arg536Gly, XP_011519806.1:p.Arg536Gly, XP_011519809.1:p.Arg536Gly, XP_011519807.1:p.Arg536Gly, XP_016877620.1:p.Arg536Gly, XP_047288392.1:p.Arg536Gly, XP_047288393.1:p.Arg536Gly

Select item 14895864153.

rs1489586415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:33154199 (GRCh38)
15:33446400 (GRCh37)
Canonical SPDI:: NC_000015.10:33154198:T:C
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
HGVS:: NC_000015.10:g.33154199T>C, NC_000015.9:g.33446400T>C, NG_042863.1:g.45535A>G, NM_001277313.2:c.716A>G, NM_001277313.1:c.716A>G, NM_001277314.2:c.716A>G, NM_001277314.1:c.716A>G, XM_011521504.4:c.716A>G, XM_011521504.3:c.716A>G, XM_011521504.2:c.716A>G, XM_011521504.1:c.716A>G, XM_011521507.3:c.716A>G, XM_011521507.2:c.716A>G, XM_011521507.1:c.716A>G, XM_011521505.3:c.716A>G, XM_011521505.2:c.716A>G, XM_011521505.1:c.716A>G, XM_017022131.2:c.716A>G, XM_017022131.1:c.716A>G, XM_047432436.1:c.716A>G, XM_047432440.1:c.-939A>G, XM_047432437.1:c.716A>G, NP_001264242.1:p.Asp239Gly, NP_001264243.1:p.Asp239Gly, XP_011519806.1:p.Asp239Gly, XP_011519809.1:p.Asp239Gly, XP_011519807.1:p.Asp239Gly, XP_016877620.1:p.Asp239Gly, XP_047288392.1:p.Asp239Gly, XP_047288393.1:p.Asp239Gly

Select item 14888543804.

rs1488854380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:33153913 (GRCh38)
15:33446114 (GRCh37)
Canonical SPDI:: NC_000015.10:33153912:C:G
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.33153913C>G, NC_000015.9:g.33446114C>G, NG_042863.1:g.45821G>C, NM_001277313.2:c.1002G>C, NM_001277313.1:c.1002G>C, NM_001277314.2:c.1002G>C, NM_001277314.1:c.1002G>C, XM_011521504.4:c.1002G>C, XM_011521504.3:c.1002G>C, XM_011521504.2:c.1002G>C, XM_011521504.1:c.1002G>C, XM_011521507.3:c.1002G>C, XM_011521507.2:c.1002G>C, XM_011521507.1:c.1002G>C, XM_011521505.3:c.1002G>C, XM_011521505.2:c.1002G>C, XM_011521505.1:c.1002G>C, XM_017022131.2:c.1002G>C, XM_017022131.1:c.1002G>C, XM_047432436.1:c.1002G>C, XM_047432440.1:c.-653G>C, XM_047432437.1:c.1002G>C, NP_001264242.1:p.Gln334His, NP_001264243.1:p.Gln334His, XP_011519806.1:p.Gln334His, XP_011519809.1:p.Gln334His, XP_011519807.1:p.Gln334His, XP_016877620.1:p.Gln334His, XP_047288392.1:p.Gln334His, XP_047288393.1:p.Gln334His

Select item 14875830595.

rs1487583059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:32964128 (GRCh38)
15:33256329 (GRCh37)
Canonical SPDI:: NC_000015.10:32964127:C:G
Gene:: FMN1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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_000015.10:g.32964128C>G, NC_000015.9:g.33256329C>G, NG_042863.1:g.235606G>C, NM_001103184.4:c.2448G>C, NM_001103184.3:c.2448G>C, NM_001277313.2:c.3117G>C, NM_001277313.1:c.3117G>C, XM_011521504.4:c.3117G>C, XM_011521504.3:c.3117G>C, XM_011521504.2:c.3117G>C, XM_011521504.1:c.3117G>C, XM_011521511.4:c.1341G>C, XM_011521511.3:c.1341G>C, XM_011521511.2:c.1341G>C, XM_011521511.1:c.1341G>C, XM_011521509.4:c.1467G>C, XM_011521509.3:c.1467G>C, XM_011521509.2:c.1467G>C, XM_011521509.1:c.1467G>C, XM_011521507.3:c.3117G>C, XM_011521507.2:c.3117G>C, XM_011521507.1:c.3117G>C, XM_017022134.3:c.1284G>C, XM_017022134.2:c.1284G>C, XM_017022134.1:c.1284G>C, XM_017022132.3:c.1383G>C, XM_017022132.2:c.1383G>C, XM_017022132.1:c.1383G>C, XM_011521505.3:c.3117G>C, XM_011521505.2:c.3117G>C, XM_011521505.1:c.3117G>C, XM_017022131.2:c.3117G>C, XM_017022131.1:c.3117G>C, XM_047432436.1:c.2823G>C, XM_047432440.1:c.1287G>C, XM_047432441.1:c.1062G>C, XM_047432437.1:c.2823G>C, XM_047432439.1:c.2448G>C, XM_047432438.1:c.2448G>C, NM_198500.1:c.1392G>C, NP_001096654.1:p.Glu816Asp, NP_001264242.1:p.Glu1039Asp, XP_011519806.1:p.Glu1039Asp, XP_011519813.1:p.Glu447Asp, XP_011519811.1:p.Glu489Asp, XP_011519809.1:p.Glu1039Asp, XP_016877623.1:p.Glu428Asp, XP_016877621.1:p.Glu461Asp, XP_011519807.1:p.Glu1039Asp, XP_016877620.1:p.Glu1039Asp, XP_047288392.1:p.Glu941Asp, XP_047288396.1:p.Glu429Asp, XP_047288397.1:p.Glu354Asp, XP_047288393.1:p.Glu941Asp, XP_047288395.1:p.Glu816Asp, XP_047288394.1:p.Glu816Asp

Select item 14874131266.

rs1487413126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:32857021 (GRCh38)
15:33149222 (GRCh37)
Canonical SPDI:: NC_000015.10:32857020:G:T
Gene:: FMN1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000015.10:g.32857021G>T, NC_000015.9:g.33149222G>T, NG_042863.1:g.342713C>A, NM_001103184.4:c.3253C>A, NM_001103184.3:c.3253C>A, NM_001277313.2:c.3922C>A, NM_001277313.1:c.3922C>A, NW_011332701.1:g.4909043G>T, NT_187660.1:g.5071495G>T, XM_011521504.4:c.3922C>A, XM_011521504.3:c.3922C>A, XM_011521504.2:c.3922C>A, XM_011521504.1:c.3922C>A, XM_011521511.4:c.2146C>A, XM_011521511.3:c.2146C>A, XM_011521511.2:c.2146C>A, XM_011521511.1:c.2146C>A, XM_011521509.4:c.2272C>A, XM_011521509.3:c.2272C>A, XM_011521509.2:c.2272C>A, XM_011521509.1:c.2272C>A, XM_017022134.3:c.2089C>A, XM_017022134.2:c.2089C>A, XM_017022134.1:c.2089C>A, XM_017022132.3:c.2188C>A, XM_017022132.2:c.2188C>A, XM_017022132.1:c.2188C>A, XM_011521505.3:c.3922C>A, XM_011521505.2:c.3922C>A, XM_011521505.1:c.3922C>A, XM_017022131.2:c.3922C>A, XM_017022131.1:c.3922C>A, XM_047432436.1:c.3628C>A, XM_047432440.1:c.2092C>A, XM_047432441.1:c.1867C>A, XM_047432437.1:c.3628C>A, XM_047432439.1:c.3253C>A, XM_047432438.1:c.3253C>A, NM_198500.1:c.2197C>A, NP_001096654.1:p.Gln1085Lys, NP_001264242.1:p.Gln1308Lys, XP_011519806.1:p.Gln1308Lys, XP_011519813.1:p.Gln716Lys, XP_011519811.1:p.Gln758Lys, XP_016877623.1:p.Gln697Lys, XP_016877621.1:p.Gln730Lys, XP_011519807.1:p.Gln1308Lys, XP_016877620.1:p.Gln1308Lys, XP_047288392.1:p.Gln1210Lys, XP_047288396.1:p.Gln698Lys, XP_047288397.1:p.Gln623Lys, XP_047288393.1:p.Gln1210Lys, XP_047288395.1:p.Gln1085Lys, XP_047288394.1:p.Gln1085Lys

Select item 14872148067.

rs1487214806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 15:32968839 (GRCh38)
15:33261040 (GRCh37)
Canonical SPDI:: NC_000015.10:32968838:T:A,NC_000015.10:32968838:T:G
Gene:: FMN1 (Varview), LOC124900367 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000027/5 (GnomAD_exomes)
G=0.000309/24 (GnomAD)
G=0.025453/73 (KOREAN)
HGVS:: NC_000015.10:g.32968839T>A, NC_000015.10:g.32968839T>G, NC_000015.9:g.33261040T>A, NC_000015.9:g.33261040T>G, NG_042863.1:g.230895A>T, NG_042863.1:g.230895A>C, NM_001103184.4:c.2193A>T, NM_001103184.4:c.2193A>C, NM_001103184.3:c.2193A>T, NM_001103184.3:c.2193A>C, NM_001277313.2:c.2862A>T, NM_001277313.2:c.2862A>C, NM_001277313.1:c.2862A>T, NM_001277313.1:c.2862A>C, XM_011521504.4:c.2862A>T, XM_011521504.4:c.2862A>C, XM_011521504.3:c.2862A>T, XM_011521504.3:c.2862A>C, XM_011521504.2:c.2862A>T, XM_011521504.2:c.2862A>C, XM_011521504.1:c.2862A>T, XM_011521504.1:c.2862A>C, XM_011521511.4:c.1086A>T, XM_011521511.4:c.1086A>C, XM_011521511.3:c.1086A>T, XM_011521511.3:c.1086A>C, XM_011521511.2:c.1086A>T, XM_011521511.2:c.1086A>C, XM_011521511.1:c.1086A>T, XM_011521511.1:c.1086A>C, XM_011521509.4:c.1212A>T, XM_011521509.4:c.1212A>C, XM_011521509.3:c.1212A>T, XM_011521509.3:c.1212A>C, XM_011521509.2:c.1212A>T, XM_011521509.2:c.1212A>C, XM_011521509.1:c.1212A>T, XM_011521509.1:c.1212A>C, XM_011521507.3:c.2862A>T, XM_011521507.3:c.2862A>C, XM_011521507.2:c.2862A>T, XM_011521507.2:c.2862A>C, XM_011521507.1:c.2862A>T, XM_011521507.1:c.2862A>C, XM_017022134.3:c.1029A>T, XM_017022134.3:c.1029A>C, XM_017022134.2:c.1029A>T, XM_017022134.2:c.1029A>C, XM_017022134.1:c.1029A>T, XM_017022134.1:c.1029A>C, XM_017022132.3:c.1128A>T, XM_017022132.3:c.1128A>C, XM_017022132.2:c.1128A>T, XM_017022132.2:c.1128A>C, XM_017022132.1:c.1128A>T, XM_017022132.1:c.1128A>C, XM_011521505.3:c.2862A>T, XM_011521505.3:c.2862A>C, XM_011521505.2:c.2862A>T, XM_011521505.2:c.2862A>C, XM_011521505.1:c.2862A>T, XM_011521505.1:c.2862A>C, XM_017022131.2:c.2862A>T, XM_017022131.2:c.2862A>C, XM_017022131.1:c.2862A>T, XM_017022131.1:c.2862A>C, XM_047432436.1:c.2568A>T, XM_047432436.1:c.2568A>C, XM_047432440.1:c.1032A>T, XM_047432440.1:c.1032A>C, XM_047432441.1:c.807A>T, XM_047432441.1:c.807A>C, XM_047432437.1:c.2568A>T, XM_047432437.1:c.2568A>C, XM_047432439.1:c.2193A>T, XM_047432439.1:c.2193A>C, XM_047432438.1:c.2193A>T, XM_047432438.1:c.2193A>C, NM_198500.1:c.1137A>T, NM_198500.1:c.1137A>C

Select item 14867980128.

rs1486798012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:32969015 (GRCh38)
15:33261216 (GRCh37)
Canonical SPDI:: NC_000015.10:32969014:G:A
Gene:: FMN1 (Varview), LOC124900367 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.32969015G>A, NC_000015.9:g.33261216G>A, NG_042863.1:g.230719C>T, NM_001103184.4:c.2017C>T, NM_001103184.3:c.2017C>T, NM_001277313.2:c.2686C>T, NM_001277313.1:c.2686C>T, XM_011521504.4:c.2686C>T, XM_011521504.3:c.2686C>T, XM_011521504.2:c.2686C>T, XM_011521504.1:c.2686C>T, XM_011521511.4:c.910C>T, XM_011521511.3:c.910C>T, XM_011521511.2:c.910C>T, XM_011521511.1:c.910C>T, XM_011521509.4:c.1036C>T, XM_011521509.3:c.1036C>T, XM_011521509.2:c.1036C>T, XM_011521509.1:c.1036C>T, XM_011521507.3:c.2686C>T, XM_011521507.2:c.2686C>T, XM_011521507.1:c.2686C>T, XM_017022134.3:c.853C>T, XM_017022134.2:c.853C>T, XM_017022134.1:c.853C>T, XM_017022132.3:c.952C>T, XM_017022132.2:c.952C>T, XM_017022132.1:c.952C>T, XM_011521505.3:c.2686C>T, XM_011521505.2:c.2686C>T, XM_011521505.1:c.2686C>T, XM_017022131.2:c.2686C>T, XM_017022131.1:c.2686C>T, XM_047432436.1:c.2392C>T, XM_047432440.1:c.856C>T, XM_047432441.1:c.631C>T, XM_047432437.1:c.2392C>T, XM_047432439.1:c.2017C>T, XM_047432438.1:c.2017C>T, NM_198500.1:c.961C>T, NP_001096654.1:p.Pro673Ser, NP_001264242.1:p.Pro896Ser, XP_011519806.1:p.Pro896Ser, XP_011519813.1:p.Pro304Ser, XP_011519811.1:p.Pro346Ser, XP_011519809.1:p.Pro896Ser, XP_016877623.1:p.Pro285Ser, XP_016877621.1:p.Pro318Ser, XP_011519807.1:p.Pro896Ser, XP_016877620.1:p.Pro896Ser, XP_047288392.1:p.Pro798Ser, XP_047288396.1:p.Pro286Ser, XP_047288397.1:p.Pro211Ser, XP_047288393.1:p.Pro798Ser, XP_047288395.1:p.Pro673Ser, XP_047288394.1:p.Pro673Ser

Select item 14867459339.

rs1486745933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:32964124 (GRCh38)
15:33256325 (GRCh37)
Canonical SPDI:: NC_000015.10:32964123:T:C
Gene:: FMN1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.32964124T>C, NC_000015.9:g.33256325T>C, NG_042863.1:g.235610A>G, NM_001103184.4:c.2452A>G, NM_001103184.3:c.2452A>G, NM_001277313.2:c.3121A>G, NM_001277313.1:c.3121A>G, XM_011521504.4:c.3121A>G, XM_011521504.3:c.3121A>G, XM_011521504.2:c.3121A>G, XM_011521504.1:c.3121A>G, XM_011521511.4:c.1345A>G, XM_011521511.3:c.1345A>G, XM_011521511.2:c.1345A>G, XM_011521511.1:c.1345A>G, XM_011521509.4:c.1471A>G, XM_011521509.3:c.1471A>G, XM_011521509.2:c.1471A>G, XM_011521509.1:c.1471A>G, XM_011521507.3:c.3121A>G, XM_011521507.2:c.3121A>G, XM_011521507.1:c.3121A>G, XM_017022134.3:c.1288A>G, XM_017022134.2:c.1288A>G, XM_017022134.1:c.1288A>G, XM_017022132.3:c.1387A>G, XM_017022132.2:c.1387A>G, XM_017022132.1:c.1387A>G, XM_011521505.3:c.3121A>G, XM_011521505.2:c.3121A>G, XM_011521505.1:c.3121A>G, XM_017022131.2:c.3121A>G, XM_017022131.1:c.3121A>G, XM_047432436.1:c.2827A>G, XM_047432440.1:c.1291A>G, XM_047432441.1:c.1066A>G, XM_047432437.1:c.2827A>G, XM_047432439.1:c.2452A>G, XM_047432438.1:c.2452A>G, NM_198500.1:c.1396A>G, NP_001096654.1:p.Lys818Glu, NP_001264242.1:p.Lys1041Glu, XP_011519806.1:p.Lys1041Glu, XP_011519813.1:p.Lys449Glu, XP_011519811.1:p.Lys491Glu, XP_011519809.1:p.Lys1041Glu, XP_016877623.1:p.Lys430Glu, XP_016877621.1:p.Lys463Glu, XP_011519807.1:p.Lys1041Glu, XP_016877620.1:p.Lys1041Glu, XP_047288392.1:p.Lys943Glu, XP_047288396.1:p.Lys431Glu, XP_047288397.1:p.Lys356Glu, XP_047288393.1:p.Lys943Glu, XP_047288395.1:p.Lys818Glu, XP_047288394.1:p.Lys818Glu

Select item 148562655010.

rs1485626550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:32969439 (GRCh38)
15:33261640 (GRCh37)
Canonical SPDI:: NC_000015.10:32969438:C:T
Gene:: FMN1 (Varview), LOC124900367 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.32969439C>T, NC_000015.9:g.33261640C>T, NG_042863.1:g.230295G>A, NM_001103184.4:c.1593G>A, NM_001103184.3:c.1593G>A, NM_001277313.2:c.2262G>A, NM_001277313.1:c.2262G>A, XM_011521504.4:c.2262G>A, XM_011521504.3:c.2262G>A, XM_011521504.2:c.2262G>A, XM_011521504.1:c.2262G>A, XM_011521511.4:c.486G>A, XM_011521511.3:c.486G>A, XM_011521511.2:c.486G>A, XM_011521511.1:c.486G>A, XM_011521509.4:c.612G>A, XM_011521509.3:c.612G>A, XM_011521509.2:c.612G>A, XM_011521509.1:c.612G>A, XM_011521507.3:c.2262G>A, XM_011521507.2:c.2262G>A, XM_011521507.1:c.2262G>A, XM_017022134.3:c.429G>A, XM_017022134.2:c.429G>A, XM_017022134.1:c.429G>A, XM_017022132.3:c.528G>A, XM_017022132.2:c.528G>A, XM_017022132.1:c.528G>A, XM_011521505.3:c.2262G>A, XM_011521505.2:c.2262G>A, XM_011521505.1:c.2262G>A, XM_017022131.2:c.2262G>A, XM_017022131.1:c.2262G>A, XM_047432436.1:c.1968G>A, XM_047432440.1:c.432G>A, XM_047432441.1:c.207G>A, XM_047432437.1:c.1968G>A, XM_047432439.1:c.1593G>A, XM_047432438.1:c.1593G>A, NM_198500.1:c.537G>A

Select item 148410112911.

rs1484101129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:33088961 (GRCh38)
15:33381162 (GRCh37)
Canonical SPDI:: NC_000015.10:33088960:C:T
Gene:: FMN1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.33088961C>T, NC_000015.9:g.33381162C>T, NG_042863.1:g.110773G>A, NM_001277313.2:c.1881G>A, NM_001277313.1:c.1881G>A, XM_011521504.4:c.1881G>A, XM_011521504.3:c.1881G>A, XM_011521504.2:c.1881G>A, XM_011521504.1:c.1881G>A, XM_011521511.4:c.105G>A, XM_011521511.3:c.105G>A, XM_011521511.2:c.105G>A, XM_011521511.1:c.105G>A, XM_011521509.4:c.231G>A, XM_011521509.3:c.231G>A, XM_011521509.2:c.231G>A, XM_011521509.1:c.231G>A, XM_011521507.3:c.1881G>A, XM_011521507.2:c.1881G>A, XM_011521507.1:c.1881G>A, XM_017022134.3:c.48G>A, XM_017022134.2:c.48G>A, XM_017022134.1:c.48G>A, XM_017022132.3:c.147G>A, XM_017022132.2:c.147G>A, XM_017022132.1:c.147G>A, XM_011521505.3:c.1881G>A, XM_011521505.2:c.1881G>A, XM_011521505.1:c.1881G>A, XM_017022131.2:c.1881G>A, XM_017022131.1:c.1881G>A

Select item 148408050712.

rs1484080507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:33153832 (GRCh38)
15:33446033 (GRCh37)
Canonical SPDI:: NC_000015.10:33153831:G:A
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.33153832G>A, NC_000015.9:g.33446033G>A, NG_042863.1:g.45902C>T, NM_001277313.2:c.1083C>T, NM_001277313.1:c.1083C>T, NM_001277314.2:c.1083C>T, NM_001277314.1:c.1083C>T, XM_011521504.4:c.1083C>T, XM_011521504.3:c.1083C>T, XM_011521504.2:c.1083C>T, XM_011521504.1:c.1083C>T, XM_011521507.3:c.1083C>T, XM_011521507.2:c.1083C>T, XM_011521507.1:c.1083C>T, XM_011521505.3:c.1083C>T, XM_011521505.2:c.1083C>T, XM_011521505.1:c.1083C>T, XM_017022131.2:c.1083C>T, XM_017022131.1:c.1083C>T, XM_047432436.1:c.1083C>T, XM_047432440.1:c.-572C>T, XM_047432437.1:c.1083C>T

Select item 148392681013.

rs1483926810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:33154504 (GRCh38)
15:33446705 (GRCh37)
Canonical SPDI:: NC_000015.10:33154503:A:T
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.33154504A>T, NC_000015.9:g.33446705A>T, NG_042863.1:g.45230T>A, NM_001277313.2:c.411T>A, NM_001277313.1:c.411T>A, NM_001277314.2:c.411T>A, NM_001277314.1:c.411T>A, XM_011521504.4:c.411T>A, XM_011521504.3:c.411T>A, XM_011521504.2:c.411T>A, XM_011521504.1:c.411T>A, XM_011521507.3:c.411T>A, XM_011521507.2:c.411T>A, XM_011521507.1:c.411T>A, XM_011521505.3:c.411T>A, XM_011521505.2:c.411T>A, XM_011521505.1:c.411T>A, XM_017022131.2:c.411T>A, XM_017022131.1:c.411T>A, XM_047432436.1:c.411T>A, XM_047432440.1:c.-1244T>A, XM_047432437.1:c.411T>A

Select item 148392402514.

rs1483924025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:33153114 (GRCh38)
15:33445315 (GRCh37)
Canonical SPDI:: NC_000015.10:33153113:C:G
Gene:: FMN1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.33153114C>G, NC_000015.9:g.33445315C>G, NG_042863.1:g.46620G>C, NM_001277313.2:c.1801G>C, NM_001277313.1:c.1801G>C, NM_001277314.2:c.1801G>C, NM_001277314.1:c.1801G>C, XM_011521504.4:c.1801G>C, XM_011521504.3:c.1801G>C, XM_011521504.2:c.1801G>C, XM_011521504.1:c.1801G>C, XM_011521507.3:c.1801G>C, XM_011521507.2:c.1801G>C, XM_011521507.1:c.1801G>C, XM_011521505.3:c.1801G>C, XM_011521505.2:c.1801G>C, XM_011521505.1:c.1801G>C, XM_017022131.2:c.1801G>C, XM_017022131.1:c.1801G>C, XM_047432436.1:c.1801G>C, XM_047432440.1:c.147G>C, XM_047432437.1:c.1801G>C, NP_001264242.1:p.Glu601Gln, NP_001264243.1:p.Glu601Gln, XP_011519806.1:p.Glu601Gln, XP_011519809.1:p.Glu601Gln, XP_011519807.1:p.Glu601Gln, XP_016877620.1:p.Glu601Gln, XP_047288392.1:p.Glu601Gln, XP_047288393.1:p.Glu601Gln

Select item 148387793515.

rs1483877935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:33153684 (GRCh38)
15:33445885 (GRCh37)
Canonical SPDI:: NC_000015.10:33153683:C:A,NC_000015.10:33153683:C:T
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.33153684C>A, NC_000015.10:g.33153684C>T, NC_000015.9:g.33445885C>A, NC_000015.9:g.33445885C>T, NG_042863.1:g.46050G>T, NG_042863.1:g.46050G>A, NM_001277313.2:c.1231G>T, NM_001277313.2:c.1231G>A, NM_001277313.1:c.1231G>T, NM_001277313.1:c.1231G>A, NM_001277314.2:c.1231G>T, NM_001277314.2:c.1231G>A, NM_001277314.1:c.1231G>T, NM_001277314.1:c.1231G>A, XM_011521504.4:c.1231G>T, XM_011521504.4:c.1231G>A, XM_011521504.3:c.1231G>T, XM_011521504.3:c.1231G>A, XM_011521504.2:c.1231G>T, XM_011521504.2:c.1231G>A, XM_011521504.1:c.1231G>T, XM_011521504.1:c.1231G>A, XM_011521507.3:c.1231G>T, XM_011521507.3:c.1231G>A, XM_011521507.2:c.1231G>T, XM_011521507.2:c.1231G>A, XM_011521507.1:c.1231G>T, XM_011521507.1:c.1231G>A, XM_011521505.3:c.1231G>T, XM_011521505.3:c.1231G>A, XM_011521505.2:c.1231G>T, XM_011521505.2:c.1231G>A, XM_011521505.1:c.1231G>T, XM_011521505.1:c.1231G>A, XM_017022131.2:c.1231G>T, XM_017022131.2:c.1231G>A, XM_017022131.1:c.1231G>T, XM_017022131.1:c.1231G>A, XM_047432436.1:c.1231G>T, XM_047432436.1:c.1231G>A, XM_047432440.1:c.-424G>T, XM_047432440.1:c.-424G>A, XM_047432437.1:c.1231G>T, XM_047432437.1:c.1231G>A, NP_001264242.1:p.Ala411Ser, NP_001264242.1:p.Ala411Thr, NP_001264243.1:p.Ala411Ser, NP_001264243.1:p.Ala411Thr, XP_011519806.1:p.Ala411Ser, XP_011519806.1:p.Ala411Thr, XP_011519809.1:p.Ala411Ser, XP_011519809.1:p.Ala411Thr, XP_011519807.1:p.Ala411Ser, XP_011519807.1:p.Ala411Thr, XP_016877620.1:p.Ala411Ser, XP_016877620.1:p.Ala411Thr, XP_047288392.1:p.Ala411Ser, XP_047288392.1:p.Ala411Thr, XP_047288393.1:p.Ala411Ser, XP_047288393.1:p.Ala411Thr

Select item 148350178616.

rs1483501786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:33088964 (GRCh38)
15:33381165 (GRCh37)
Canonical SPDI:: NC_000015.10:33088963:A:G
Gene:: FMN1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.33088964A>G, NC_000015.9:g.33381165A>G, NG_042863.1:g.110770T>C, NM_001277313.2:c.1878T>C, NM_001277313.1:c.1878T>C, XM_011521504.4:c.1878T>C, XM_011521504.3:c.1878T>C, XM_011521504.2:c.1878T>C, XM_011521504.1:c.1878T>C, XM_011521511.4:c.102T>C, XM_011521511.3:c.102T>C, XM_011521511.2:c.102T>C, XM_011521511.1:c.102T>C, XM_011521509.4:c.228T>C, XM_011521509.3:c.228T>C, XM_011521509.2:c.228T>C, XM_011521509.1:c.228T>C, XM_011521507.3:c.1878T>C, XM_011521507.2:c.1878T>C, XM_011521507.1:c.1878T>C, XM_017022134.3:c.45T>C, XM_017022134.2:c.45T>C, XM_017022134.1:c.45T>C, XM_017022132.3:c.144T>C, XM_017022132.2:c.144T>C, XM_017022132.1:c.144T>C, XM_011521505.3:c.1878T>C, XM_011521505.2:c.1878T>C, XM_011521505.1:c.1878T>C, XM_017022131.2:c.1878T>C, XM_017022131.1:c.1878T>C

Select item 148294477517.

rs1482944775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:33154894 (GRCh38)
15:33447095 (GRCh37)
Canonical SPDI:: NC_000015.10:33154893:G:A
Gene:: FMN1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.33154894G>A, NC_000015.9:g.33447095G>A, NG_042863.1:g.44840C>T, NM_001277313.2:c.21C>T, NM_001277313.1:c.21C>T, NM_001277314.2:c.21C>T, NM_001277314.1:c.21C>T, XM_011521504.4:c.21C>T, XM_011521504.3:c.21C>T, XM_011521504.2:c.21C>T, XM_011521504.1:c.21C>T, XM_011521507.3:c.21C>T, XM_011521507.2:c.21C>T, XM_011521507.1:c.21C>T, XM_011521505.3:c.21C>T, XM_011521505.2:c.21C>T, XM_011521505.1:c.21C>T, XM_017022131.2:c.21C>T, XM_017022131.1:c.21C>T, XM_047432436.1:c.21C>T, XM_047432437.1:c.21C>T

Select item 148254901418.

rs1482549014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:32968794 (GRCh38)
15:33260995 (GRCh37)
Canonical SPDI:: NC_000015.10:32968793:T:C
Gene:: FMN1 (Varview), LOC124900367 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.32968794T>C, NC_000015.9:g.33260995T>C, NG_042863.1:g.230940A>G, NM_001103184.4:c.2238A>G, NM_001103184.3:c.2238A>G, NM_001277313.2:c.2907A>G, NM_001277313.1:c.2907A>G, XM_011521504.4:c.2907A>G, XM_011521504.3:c.2907A>G, XM_011521504.2:c.2907A>G, XM_011521504.1:c.2907A>G, XM_011521511.4:c.1131A>G, XM_011521511.3:c.1131A>G, XM_011521511.2:c.1131A>G, XM_011521511.1:c.1131A>G, XM_011521509.4:c.1257A>G, XM_011521509.3:c.1257A>G, XM_011521509.2:c.1257A>G, XM_011521509.1:c.1257A>G, XM_011521507.3:c.2907A>G, XM_011521507.2:c.2907A>G, XM_011521507.1:c.2907A>G, XM_017022134.3:c.1074A>G, XM_017022134.2:c.1074A>G, XM_017022134.1:c.1074A>G, XM_017022132.3:c.1173A>G, XM_017022132.2:c.1173A>G, XM_017022132.1:c.1173A>G, XM_011521505.3:c.2907A>G, XM_011521505.2:c.2907A>G, XM_011521505.1:c.2907A>G, XM_017022131.2:c.2907A>G, XM_017022131.1:c.2907A>G, XM_047432436.1:c.2613A>G, XM_047432440.1:c.1077A>G, XM_047432441.1:c.852A>G, XM_047432437.1:c.2613A>G, XM_047432439.1:c.2238A>G, XM_047432438.1:c.2238A>G, NM_198500.1:c.1182A>G

Select item 148200336819.

rs1482003368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:33154740 (GRCh38)
15:33446941 (GRCh37)
Canonical SPDI:: NC_000015.10:33154739:T:C
Gene:: FMN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD_exomes)
HGVS:: NC_000015.10:g.33154740T>C, NC_000015.9:g.33446941T>C, NG_042863.1:g.44994A>G, NM_001277313.2:c.175A>G, NM_001277313.1:c.175A>G, NM_001277314.2:c.175A>G, NM_001277314.1:c.175A>G, XM_011521504.4:c.175A>G, XM_011521504.3:c.175A>G, XM_011521504.2:c.175A>G, XM_011521504.1:c.175A>G, XM_011521507.3:c.175A>G, XM_011521507.2:c.175A>G, XM_011521507.1:c.175A>G, XM_011521505.3:c.175A>G, XM_011521505.2:c.175A>G, XM_011521505.1:c.175A>G, XM_017022131.2:c.175A>G, XM_017022131.1:c.175A>G, XM_047432436.1:c.175A>G, XM_047432440.1:c.-1480A>G, XM_047432437.1:c.175A>G, NP_001264242.1:p.Ile59Val, NP_001264243.1:p.Ile59Val, XP_011519806.1:p.Ile59Val, XP_011519809.1:p.Ile59Val, XP_011519807.1:p.Ile59Val, XP_016877620.1:p.Ile59Val, XP_047288392.1:p.Ile59Val, XP_047288393.1:p.Ile59Val

Select item 148191204720.

rs1481912047 has merged into rs1409373880 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TCTCTC [Show Flanks]
Chromosome:: 15:33154417 (GRCh38)
15:33446618 (GRCh37)
Canonical SPDI:: NC_000015.10:33154411:CTCTCTCTC:CTCTC,NC_000015.10:33154411:CTCTCTCTC:CTCTCTCTCTC
Gene:: FMN1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTC=0./0 (ALFA)
CT=0.000007/1 (GnomAD)
-=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.33154413TC[2], NC_000015.10:g.33154413TC[5], NC_000015.9:g.33446614TC[2], NC_000015.9:g.33446614TC[5], NG_042863.1:g.45315AG[2], NG_042863.1:g.45315AG[5], NM_001277313.2:c.500_503del, NM_001277313.2:c.502_503dup, NM_001277313.1:c.500_503del, NM_001277313.1:c.502_503dup, NM_001277314.2:c.500_503del, NM_001277314.2:c.502_503dup, NM_001277314.1:c.500_503del, NM_001277314.1:c.502_503dup, XM_011521504.4:c.500_503del, XM_011521504.4:c.502_503dup, XM_011521504.3:c.500_503del, XM_011521504.3:c.502_503dup, XM_011521504.2:c.500_503del, XM_011521504.2:c.502_503dup, XM_011521504.1:c.500_503del, XM_011521504.1:c.502_503dup, XM_011521507.3:c.500_503del, XM_011521507.3:c.502_503dup, XM_011521507.2:c.500_503del, XM_011521507.2:c.502_503dup, XM_011521507.1:c.500_503del, XM_011521507.1:c.502_503dup, XM_011521505.3:c.500_503del, XM_011521505.3:c.502_503dup, XM_011521505.2:c.500_503del, XM_011521505.2:c.502_503dup, XM_011521505.1:c.500_503del, XM_011521505.1:c.502_503dup, XM_017022131.2:c.500_503del, XM_017022131.2:c.502_503dup, XM_017022131.1:c.500_503del, XM_017022131.1:c.502_503dup, XM_047432436.1:c.500_503del, XM_047432436.1:c.502_503dup, XM_047432440.1:c.-1159AG[2], XM_047432440.1:c.-1159AG[5], XM_047432437.1:c.500_503del, XM_047432437.1:c.502_503dup, NP_001264242.1:p.Glu167fs, NP_001264242.1:p.Ser168fs, NP_001264243.1:p.Glu167fs, NP_001264243.1:p.Ser168fs, XP_011519806.1:p.Glu167fs, XP_011519806.1:p.Ser168fs, XP_011519809.1:p.Glu167fs, XP_011519809.1:p.Ser168fs, XP_011519807.1:p.Glu167fs, XP_011519807.1:p.Ser168fs, XP_016877620.1:p.Glu167fs, XP_016877620.1:p.Ser168fs, XP_047288392.1:p.Glu167fs, XP_047288392.1:p.Ser168fs, XP_047288393.1:p.Glu167fs, XP_047288393.1:p.Ser168fs

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