SNP Links for Protein (Select 47132600) - SNP

Links from Protein

Items: 1 to 20 of 272

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Select item 14869847191.

rs1486984719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:10463098 (GRCh38)
1:10523155 (GRCh37)
Canonical SPDI:: NC_000001.11:10463097:T:G
Gene:: DFFA (Varview)
Functional Consequence:: missense_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_000001.11:g.10463098T>G, NC_000001.10:g.10523155T>G, NG_029098.1:g.14459A>C, NM_004401.3:c.743A>C, NM_004401.2:c.743A>C, NM_213566.2:c.743A>C, NM_213566.1:c.743A>C, NP_004392.1:p.Lys248Thr, NP_998731.1:p.Lys248Thr

Select item 14869644052.

rs1486964405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10463617 (GRCh38)
1:10523674 (GRCh37)
Canonical SPDI:: NC_000001.11:10463616:G:A
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10463617G>A, NC_000001.10:g.10523674G>A, NG_029098.1:g.13940C>T, NM_004401.3:c.445C>T, NM_004401.2:c.445C>T, NM_213566.2:c.445C>T, NM_213566.1:c.445C>T, NP_004392.1:p.Leu149Phe, NP_998731.1:p.Leu149Phe

Select item 14860038113.

rs1486003811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:10463544 (GRCh38)
1:10523601 (GRCh37)
Canonical SPDI:: NC_000001.11:10463543:T:A,NC_000001.11:10463543:T:C
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.10463544T>A, NC_000001.11:g.10463544T>C, NC_000001.10:g.10523601T>A, NC_000001.10:g.10523601T>C, NG_029098.1:g.14013A>T, NG_029098.1:g.14013A>G, NM_004401.3:c.518A>T, NM_004401.3:c.518A>G, NM_004401.2:c.518A>T, NM_004401.2:c.518A>G, NM_213566.2:c.518A>T, NM_213566.2:c.518A>G, NM_213566.1:c.518A>T, NM_213566.1:c.518A>G, NP_004392.1:p.His173Leu, NP_004392.1:p.His173Arg, NP_998731.1:p.His173Leu, NP_998731.1:p.His173Arg

Select item 14853635134.

rs1485363513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10472375 (GRCh38)
1:10532432 (GRCh37)
Canonical SPDI:: NC_000001.11:10472374:G:A
Gene:: DFFA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10472375G>A, NC_000001.10:g.10532432G>A, NG_008340.2:g.2430G>A, NG_029098.1:g.5182C>T, NM_004401.3:c.84C>T, NM_004401.2:c.84C>T, NM_213566.2:c.84C>T, NM_213566.1:c.84C>T

Select item 14853048185.

rs1485304818 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:10463439 (GRCh38)
1:10523496 (GRCh37)
Canonical SPDI:: NC_000001.11:10463438:TTT:TT
Gene:: DFFA (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000447/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000001.11:g.10463441del, NC_000001.10:g.10523498del, NG_029098.1:g.14118del, NM_004401.3:c.623del, NM_004401.2:c.623del, NM_213566.2:c.623del, NM_213566.1:c.623del, NP_004392.1:p.Lys208fs, NP_998731.1:p.Lys208fs

Select item 14793941436.

rs1479394143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10463148 (GRCh38)
1:10523205 (GRCh37)
Canonical SPDI:: NC_000001.11:10463147:G:A
Gene:: DFFA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.10463148G>A, NC_000001.10:g.10523205G>A, NG_029098.1:g.14409C>T, NM_004401.3:c.693C>T, NM_004401.2:c.693C>T, NM_213566.2:c.693C>T, NM_213566.1:c.693C>T

Select item 14776051167.

rs1477605116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:10463117 (GRCh38)
1:10523174 (GRCh37)
Canonical SPDI:: NC_000001.11:10463116:G:A,NC_000001.11:10463116:G:C
Gene:: DFFA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10463117G>A, NC_000001.11:g.10463117G>C, NC_000001.10:g.10523174G>A, NC_000001.10:g.10523174G>C, NG_029098.1:g.14440C>T, NG_029098.1:g.14440C>G, NM_004401.3:c.724C>T, NM_004401.3:c.724C>G, NM_004401.2:c.724C>T, NM_004401.2:c.724C>G, NM_213566.2:c.724C>T, NM_213566.2:c.724C>G, NM_213566.1:c.724C>T, NM_213566.1:c.724C>G, NP_004392.1:p.Leu242Phe, NP_004392.1:p.Leu242Val, NP_998731.1:p.Leu242Phe, NP_998731.1:p.Leu242Val

Select item 14756531478.

rs1475653147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:10463479 (GRCh38)
1:10523536 (GRCh37)
Canonical SPDI:: NC_000001.11:10463478:A:C
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10463479A>C, NC_000001.10:g.10523536A>C, NG_029098.1:g.14078T>G, NM_004401.3:c.583T>G, NM_004401.2:c.583T>G, NM_213566.2:c.583T>G, NM_213566.1:c.583T>G, NP_004392.1:p.Tyr195Asp, NP_998731.1:p.Tyr195Asp

Select item 14748853109.

rs1474885310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10463594 (GRCh38)
1:10523651 (GRCh37)
Canonical SPDI:: NC_000001.11:10463593:G:A
Gene:: DFFA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.10463594G>A, NC_000001.10:g.10523651G>A, NG_029098.1:g.13963C>T, NM_004401.3:c.468C>T, NM_004401.2:c.468C>T, NM_213566.2:c.468C>T, NM_213566.1:c.468C>T

Select item 147330410710.

rs1473304107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:10472323 (GRCh38)
1:10532380 (GRCh37)
Canonical SPDI:: NC_000001.11:10472322:C:G,NC_000001.11:10472322:C:T
Gene:: DFFA (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)
HGVS:: NC_000001.11:g.10472323C>G, NC_000001.11:g.10472323C>T, NC_000001.10:g.10532380C>G, NC_000001.10:g.10532380C>T, NG_008340.2:g.2378C>G, NG_008340.2:g.2378C>T, NG_029098.1:g.5234G>C, NG_029098.1:g.5234G>A, NM_004401.3:c.136G>C, NM_004401.3:c.136G>A, NM_004401.2:c.136G>C, NM_004401.2:c.136G>A, NM_213566.2:c.136G>C, NM_213566.2:c.136G>A, NM_213566.1:c.136G>C, NM_213566.1:c.136G>A, NP_004392.1:p.Ala46Pro, NP_004392.1:p.Ala46Thr, NP_998731.1:p.Ala46Pro, NP_998731.1:p.Ala46Thr

Select item 147185860111.

rs1471858601 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10463124 (GRCh38)
1:10523181 (GRCh37)
Canonical SPDI:: NC_000001.11:10463123:G:A
Gene:: DFFA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.10463124G>A, NC_000001.10:g.10523181G>A, NG_029098.1:g.14433C>T, NM_004401.3:c.717C>T, NM_004401.2:c.717C>T, NM_213566.2:c.717C>T, NM_213566.1:c.717C>T

Select item 146783808412.

rs1467838084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:10469209 (GRCh38)
1:10529266 (GRCh37)
Canonical SPDI:: NC_000001.11:10469208:G:A,NC_000001.11:10469208:G:C
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10469209G>A, NC_000001.11:g.10469209G>C, NC_000001.10:g.10529266G>A, NC_000001.10:g.10529266G>C, NG_029098.1:g.8348C>T, NG_029098.1:g.8348C>G, NM_004401.3:c.266C>T, NM_004401.3:c.266C>G, NM_004401.2:c.266C>T, NM_004401.2:c.266C>G, NM_213566.2:c.266C>T, NM_213566.2:c.266C>G, NM_213566.1:c.266C>T, NM_213566.1:c.266C>G, NP_004392.1:p.Ala89Val, NP_004392.1:p.Ala89Gly, NP_998731.1:p.Ala89Val, NP_998731.1:p.Ala89Gly

Select item 146287685813.

rs1462876858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:10467236 (GRCh38)
1:10527293 (GRCh37)
Canonical SPDI:: NC_000001.11:10467235:T:C
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10467236T>C, NC_000001.10:g.10527293T>C, NG_029098.1:g.10321A>G, NM_004401.3:c.395A>G, NM_004401.2:c.395A>G, NM_213566.2:c.395A>G, NM_213566.1:c.395A>G, NP_004392.1:p.Lys132Arg, NP_998731.1:p.Lys132Arg

Select item 145770152614.

rs1457701526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10467196 (GRCh38)
1:10527253 (GRCh37)
Canonical SPDI:: NC_000001.11:10467195:G:A
Gene:: DFFA (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.10467196G>A, NC_000001.10:g.10527253G>A, NG_029098.1:g.10361C>T, NM_004401.3:c.435C>T, NM_004401.2:c.435C>T, NM_213566.2:c.435C>T, NM_213566.1:c.435C>T

Select item 143240030015.

rs1432400300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:10463508 (GRCh38)
1:10523565 (GRCh37)
Canonical SPDI:: NC_000001.11:10463507:A:C,NC_000001.11:10463507:A:G
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000087/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
C=0.001638/3 (Korea1K)
HGVS:: NC_000001.11:g.10463508A>C, NC_000001.11:g.10463508A>G, NC_000001.10:g.10523565A>C, NC_000001.10:g.10523565A>G, NG_029098.1:g.14049T>G, NG_029098.1:g.14049T>C, NM_004401.3:c.554T>G, NM_004401.3:c.554T>C, NM_004401.2:c.554T>G, NM_004401.2:c.554T>C, NM_213566.2:c.554T>G, NM_213566.2:c.554T>C, NM_213566.1:c.554T>G, NM_213566.1:c.554T>C, NP_004392.1:p.Val185Gly, NP_004392.1:p.Val185Ala, NP_998731.1:p.Val185Gly, NP_998731.1:p.Val185Ala

Select item 143075387016.

rs1430753870 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:10472426 (GRCh38)
1:10532483 (GRCh37)
Canonical SPDI:: NC_000001.11:10472425:T:A
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.10472426T>A, NC_000001.10:g.10532483T>A, NG_008340.2:g.2481T>A, NG_029098.1:g.5131A>T, NM_004401.3:c.33A>T, NM_004401.2:c.33A>T, NM_213566.2:c.33A>T, NM_213566.1:c.33A>T, NP_004392.1:p.Glu11Asp, NP_998731.1:p.Glu11Asp

Select item 142646560417.

rs1426465604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:10467319 (GRCh38)
1:10527376 (GRCh37)
Canonical SPDI:: NC_000001.11:10467318:A:C
Gene:: DFFA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.10467319A>C, NC_000001.10:g.10527376A>C, NG_029098.1:g.10238T>G, NM_004401.3:c.312T>G, NM_004401.2:c.312T>G, NM_213566.2:c.312T>G, NM_213566.1:c.312T>G

Select item 142269379118.

rs1422693791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:10467309 (GRCh38)
1:10527366 (GRCh37)
Canonical SPDI:: NC_000001.11:10467308:G:A
Gene:: DFFA (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.10467309G>A, NC_000001.10:g.10527366G>A, NG_029098.1:g.10248C>T, NM_004401.3:c.322C>T, NM_004401.2:c.322C>T, NM_213566.2:c.322C>T, NM_213566.1:c.322C>T, NP_004392.1:p.Gln108Ter, NP_998731.1:p.Gln108Ter

Select item 141761546119.

rs1417615461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:10463433 (GRCh38)
1:10523490 (GRCh37)
Canonical SPDI:: NC_000001.11:10463432:T:G
Gene:: DFFA (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.10463433T>G, NC_000001.10:g.10523490T>G, NG_029098.1:g.14124A>C, NM_004401.3:c.629A>C, NM_004401.2:c.629A>C, NM_213566.2:c.629A>C, NM_213566.1:c.629A>C, NP_004392.1:p.Glu210Ala, NP_998731.1:p.Glu210Ala

Select item 141253205020.

rs1412532050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:10472397 (GRCh38)
1:10532454 (GRCh37)
Canonical SPDI:: NC_000001.11:10472396:C:G
Gene:: DFFA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.10472397C>G, NC_000001.10:g.10532454C>G, NG_008340.2:g.2452C>G, NG_029098.1:g.5160G>C, NM_004401.3:c.62G>C, NM_004401.2:c.62G>C, NM_213566.2:c.62G>C, NM_213566.1:c.62G>C, NP_004392.1:p.Cys21Ser, NP_998731.1:p.Cys21Ser

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