SNP Links for Protein (Select 767952423) - SNP

Links from Protein

Items: 1 to 20 of 143

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Select item 14832834711.

rs1483283471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:119208544 (GRCh38)
8:120220784 (GRCh37)
Canonical SPDI:: NC_000008.11:119208543:C:A,NC_000008.11:119208543:C:T
Gene:: MAL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.119208544C>A, NC_000008.11:g.119208544C>T, NC_000008.10:g.120220784C>A, NC_000008.10:g.120220784C>T, NM_052886.3:c.72C>A, NM_052886.3:c.72C>T, NM_052886.2:c.72C>A, NM_052886.2:c.72C>T, XM_011516807.3:c.72C>A, XM_011516807.3:c.72C>T, XM_011516807.2:c.72C>A, XM_011516807.2:c.72C>T, XM_011516807.1:c.72C>A, XM_011516807.1:c.72C>T

Select item 14829481722.

rs1482948172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119243452 (GRCh38)
8:120255692 (GRCh37)
Canonical SPDI:: NC_000008.11:119243451:C:T
Gene:: MAL2 (Varview), MAL2-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.119243452C>T, NC_000008.10:g.120255692C>T, NM_052886.3:c.495C>T, NM_052886.2:c.495C>T, XM_011516807.3:c.324C>T, XM_011516807.2:c.324C>T, XM_011516807.1:c.324C>T

Select item 14813939373.

rs1481393937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119208514 (GRCh38)
8:120220753 (GRCh37)
Canonical SPDI:: NC_000008.11:119208513:C:T
Gene:: MAL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.119208514C>T, NC_000008.10:g.120220753C>T, NM_052886.3:c.42C>T, NM_052886.2:c.42C>T, XM_011516807.3:c.42C>T, XM_011516807.2:c.42C>T, XM_011516807.1:c.42C>T

Select item 14809755554.

rs1480975555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:119208481 (GRCh38)
8:120220720 (GRCh37)
Canonical SPDI:: NC_000008.11:119208480:C:A
Gene:: MAL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.119208481C>A, NC_000008.10:g.120220720C>A, NM_052886.3:c.9C>A, NM_052886.2:c.9C>A, XM_011516807.3:c.9C>A, XM_011516807.2:c.9C>A, XM_011516807.1:c.9C>A

Select item 14797592805.

rs1479759280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:119208489 (GRCh38)
8:120220728 (GRCh37)
Canonical SPDI:: NC_000008.11:119208488:C:A,NC_000008.11:119208488:C:G
Gene:: MAL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00014/2 (ALFA)
HGVS:: NC_000008.11:g.119208489C>A, NC_000008.11:g.119208489C>G, NC_000008.10:g.120220728C>A, NC_000008.10:g.120220728C>G, NM_052886.3:c.17C>A, NM_052886.3:c.17C>G, NM_052886.2:c.17C>A, NM_052886.2:c.17C>G, XM_011516807.3:c.17C>A, XM_011516807.3:c.17C>G, XM_011516807.2:c.17C>A, XM_011516807.2:c.17C>G, XM_011516807.1:c.17C>A, XM_011516807.1:c.17C>G, NP_443118.1:p.Ala6Glu, NP_443118.1:p.Ala6Gly, XP_011515109.1:p.Ala6Glu, XP_011515109.1:p.Ala6Gly

Select item 14787004266.

rs1478700426 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:119243417 (GRCh38)
8:120255658 (GRCh37)
Canonical SPDI:: NC_000008.11:119243417:TTTTT:TTTTTT
Gene:: MAL2 (Varview), MAL2-AS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.119243422dup, NC_000008.10:g.120255662dup, NM_052886.3:c.465dup, NM_052886.2:c.465dup, XM_011516807.3:c.294dup, XM_011516807.2:c.294dup, XM_011516807.1:c.294dup, NP_443118.1:p.Ala156fs, XP_011515109.1:p.Ala99fs

Select item 14727875297.

rs1472787529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:119208518 (GRCh38)
8:120220757 (GRCh37)
Canonical SPDI:: NC_000008.11:119208517:G:A,NC_000008.11:119208517:G:T
Gene:: MAL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.119208518G>A, NC_000008.11:g.119208518G>T, NC_000008.10:g.120220757G>A, NC_000008.10:g.120220757G>T, NM_052886.3:c.46G>A, NM_052886.3:c.46G>T, NM_052886.2:c.46G>A, NM_052886.2:c.46G>T, XM_011516807.3:c.46G>A, XM_011516807.3:c.46G>T, XM_011516807.2:c.46G>A, XM_011516807.2:c.46G>T, XM_011516807.1:c.46G>A, XM_011516807.1:c.46G>T, NP_443118.1:p.Val16Met, NP_443118.1:p.Val16Leu, XP_011515109.1:p.Val16Met, XP_011515109.1:p.Val16Leu

Select item 14704351358.

rs1470435135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:119240246 (GRCh38)
8:120252486 (GRCh37)
Canonical SPDI:: NC_000008.11:119240245:T:A
Gene:: MAL2 (Varview), MAL2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.119240246T>A, NC_000008.10:g.120252486T>A, NM_052886.3:c.385T>A, NM_052886.2:c.385T>A, XM_011516807.3:c.214T>A, XM_011516807.2:c.214T>A, XM_011516807.1:c.214T>A, NP_443118.1:p.Leu129Met, XP_011515109.1:p.Leu72Met

Select item 14536051299.

rs1453605129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:119240182 (GRCh38)
8:120252423 (GRCh37)
Canonical SPDI:: NC_000008.11:119240182:A:AA
Gene:: MAL2 (Varview), MAL2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.119240183dup, NC_000008.10:g.120252423dup, NM_052886.3:c.322dup, NM_052886.2:c.322dup, XM_011516807.3:c.151dup, XM_011516807.2:c.151dup, XM_011516807.1:c.151dup, NP_443118.1:p.Thr108fs, XP_011515109.1:p.Thr51fs

Select item 145325982210.

rs1453259822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119240302 (GRCh38)
8:120252542 (GRCh37)
Canonical SPDI:: NC_000008.11:119240301:C:T
Gene:: MAL2 (Varview), MAL2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.119240302C>T, NC_000008.10:g.120252542C>T, NM_052886.3:c.441C>T, NM_052886.2:c.441C>T, XM_011516807.3:c.270C>T, XM_011516807.2:c.270C>T, XM_011516807.1:c.270C>T

Select item 145288394911.

rs1452883949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:119208589 (GRCh38)
8:120220829 (GRCh37)
Canonical SPDI:: NC_000008.11:119208588:C:G,NC_000008.11:119208588:C:T
Gene:: MAL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.119208589C>G, NC_000008.11:g.119208589C>T, NC_000008.10:g.120220829C>G, NC_000008.10:g.120220829C>T, NM_052886.3:c.117C>G, NM_052886.3:c.117C>T, NM_052886.2:c.117C>G, NM_052886.2:c.117C>T, XM_011516807.3:c.117C>G, XM_011516807.3:c.117C>T, XM_011516807.2:c.117C>G, XM_011516807.2:c.117C>T, XM_011516807.1:c.117C>G, XM_011516807.1:c.117C>T, NP_443118.1:p.Phe39Leu, XP_011515109.1:p.Phe39Leu

Select item 144651504712.

rs1446515047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119243471 (GRCh38)
8:120255711 (GRCh37)
Canonical SPDI:: NC_000008.11:119243470:C:T
Gene:: MAL2 (Varview), MAL2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000008.11:g.119243471C>T, NC_000008.10:g.120255711C>T, NM_052886.3:c.514C>T, NM_052886.2:c.514C>T, XM_011516807.3:c.343C>T, XM_011516807.2:c.343C>T, XM_011516807.1:c.343C>T, NP_443118.1:p.Arg172Ter, XP_011515109.1:p.Arg115Ter

Select item 144350509013.

rs1443505090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:119208554 (GRCh38)
8:120220794 (GRCh37)
Canonical SPDI:: NC_000008.11:119208553:G:A,NC_000008.11:119208553:G:T
Gene:: MAL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.119208554G>A, NC_000008.11:g.119208554G>T, NC_000008.10:g.120220794G>A, NC_000008.10:g.120220794G>T, NM_052886.3:c.82G>A, NM_052886.3:c.82G>T, NM_052886.2:c.82G>A, NM_052886.2:c.82G>T, XM_011516807.3:c.82G>A, XM_011516807.3:c.82G>T, XM_011516807.2:c.82G>A, XM_011516807.2:c.82G>T, XM_011516807.1:c.82G>A, XM_011516807.1:c.82G>T, NP_443118.1:p.Gly28Ser, NP_443118.1:p.Gly28Cys, XP_011515109.1:p.Gly28Ser, XP_011515109.1:p.Gly28Cys

Select item 142662252614.

rs1426622526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:119208551 (GRCh38)
8:120220791 (GRCh37)
Canonical SPDI:: NC_000008.11:119208550:G:A,NC_000008.11:119208550:G:C,NC_000008.11:119208550:G:T
Gene:: MAL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000008.11:g.119208551G>A, NC_000008.11:g.119208551G>C, NC_000008.11:g.119208551G>T, NC_000008.10:g.120220791G>A, NC_000008.10:g.120220791G>C, NC_000008.10:g.120220791G>T, NM_052886.3:c.79G>A, NM_052886.3:c.79G>C, NM_052886.3:c.79G>T, NM_052886.2:c.79G>A, NM_052886.2:c.79G>C, NM_052886.2:c.79G>T, XM_011516807.3:c.79G>A, XM_011516807.3:c.79G>C, XM_011516807.3:c.79G>T, XM_011516807.2:c.79G>A, XM_011516807.2:c.79G>C, XM_011516807.2:c.79G>T, XM_011516807.1:c.79G>A, XM_011516807.1:c.79G>C, XM_011516807.1:c.79G>T, NP_443118.1:p.Ala27Thr, NP_443118.1:p.Ala27Pro, NP_443118.1:p.Ala27Ser, XP_011515109.1:p.Ala27Thr, XP_011515109.1:p.Ala27Pro, XP_011515109.1:p.Ala27Ser

Select item 142229123115.

rs1422291231 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:119208547 (GRCh38)
8:120220787 (GRCh37)
Canonical SPDI:: NC_000008.11:119208546:G:A,NC_000008.11:119208546:G:T
Gene:: MAL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.00006/1 (TOMMO)
HGVS:: NC_000008.11:g.119208547G>A, NC_000008.11:g.119208547G>T, NC_000008.10:g.120220787G>A, NC_000008.10:g.120220787G>T, NM_052886.3:c.75G>A, NM_052886.3:c.75G>T, NM_052886.2:c.75G>A, NM_052886.2:c.75G>T, XM_011516807.3:c.75G>A, XM_011516807.3:c.75G>T, XM_011516807.2:c.75G>A, XM_011516807.2:c.75G>T, XM_011516807.1:c.75G>A, XM_011516807.1:c.75G>T

Select item 141251340516.

rs1412513405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:119240172 (GRCh38)
8:120252412 (GRCh37)
Canonical SPDI:: NC_000008.11:119240171:C:A
Gene:: MAL2 (Varview), MAL2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.119240172C>A, NC_000008.10:g.120252412C>A, NM_052886.3:c.311C>A, NM_052886.2:c.311C>A, XM_011516807.3:c.140C>A, XM_011516807.2:c.140C>A, XM_011516807.1:c.140C>A, NP_443118.1:p.Ala104Asp, XP_011515109.1:p.Ala47Asp

Select item 141129722517.

rs1411297225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:119208546 (GRCh38)
8:120220786 (GRCh37)
Canonical SPDI:: NC_000008.11:119208545:T:A
Gene:: MAL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.119208546T>A, NC_000008.10:g.120220786T>A, NM_052886.3:c.74T>A, NM_052886.2:c.74T>A, XM_011516807.3:c.74T>A, XM_011516807.2:c.74T>A, XM_011516807.1:c.74T>A, NP_443118.1:p.Leu25Gln, XP_011515109.1:p.Leu25Gln

Select item 141096920418.

rs1410969204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:119208517 (GRCh38)
8:120220756 (GRCh37)
Canonical SPDI:: NC_000008.11:119208516:C:A,NC_000008.11:119208516:C:G,NC_000008.11:119208516:C:T
Gene:: MAL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.119208517C>A, NC_000008.11:g.119208517C>G, NC_000008.11:g.119208517C>T, NC_000008.10:g.120220756C>A, NC_000008.10:g.120220756C>G, NC_000008.10:g.120220756C>T, NM_052886.3:c.45C>A, NM_052886.3:c.45C>G, NM_052886.3:c.45C>T, NM_052886.2:c.45C>A, NM_052886.2:c.45C>G, NM_052886.2:c.45C>T, XM_011516807.3:c.45C>A, XM_011516807.3:c.45C>G, XM_011516807.3:c.45C>T, XM_011516807.2:c.45C>A, XM_011516807.2:c.45C>G, XM_011516807.2:c.45C>T, XM_011516807.1:c.45C>A, XM_011516807.1:c.45C>G, XM_011516807.1:c.45C>T

Select item 140786842319.

rs1407868423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:119208592 (GRCh38)
8:120220832 (GRCh37)
Canonical SPDI:: NC_000008.11:119208591:C:T
Gene:: MAL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.119208592C>T, NC_000008.10:g.120220832C>T, NM_052886.3:c.120C>T, NM_052886.2:c.120C>T, XM_011516807.3:c.120C>T, XM_011516807.2:c.120C>T, XM_011516807.1:c.120C>T

Select item 139561752720.

rs1395617527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:119208595 (GRCh38)
8:120220835 (GRCh37)
Canonical SPDI:: NC_000008.11:119208594:C:G
Gene:: MAL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.119208595C>G, NC_000008.10:g.120220835C>G, NM_052886.3:c.123C>G, NM_052886.2:c.123C>G, XM_011516807.3:c.123C>G, XM_011516807.2:c.123C>G, XM_011516807.1:c.123C>G, NP_443118.1:p.Cys41Trp, XP_011515109.1:p.Cys41Trp

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