SNP Links for Protein (Select 49227854) - SNP

Links from Protein

Items: 1 to 20 of 123

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Select item 14899763511.

rs1489976351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:6377211 (GRCh38)
5:6377324 (GRCh37)
Canonical SPDI:: NC_000005.10:6377210:C:T
Gene:: MED10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.6377211C>T, NC_000005.9:g.6377324C>T, NW_025791776.1:g.79385C>T, NM_032286.3:c.161G>A, NM_032286.2:c.161G>A, NP_115662.2:p.Cys54Tyr

Select item 14798349972.

rs1479834997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:6378475 (GRCh38)
5:6378588 (GRCh37)
Canonical SPDI:: NC_000005.10:6378474:C:A
Gene:: MED10 (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_000005.10:g.6378475C>A, NC_000005.9:g.6378588C>A, NW_025791776.1:g.80649C>A, NM_032286.3:c.9G>T, NM_032286.2:c.9G>T, NP_115662.2:p.Glu3Asp

Select item 14773318323.

rs1477331832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:6372522 (GRCh38)
5:6372635 (GRCh37)
Canonical SPDI:: NC_000005.10:6372521:T:A,NC_000005.10:6372521:T:C
Gene:: MED10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.6372522T>A, NC_000005.10:g.6372522T>C, NC_000005.9:g.6372635T>A, NC_000005.9:g.6372635T>C, NW_025791776.1:g.74696T>A, NW_025791776.1:g.74696T>C, NM_032286.3:c.389A>T, NM_032286.3:c.389A>G, NM_032286.2:c.389A>T, NM_032286.2:c.389A>G, NP_115662.2:p.Glu130Val, NP_115662.2:p.Glu130Gly

Select item 14691787804.

rs1469178780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:6378453 (GRCh38)
5:6378566 (GRCh37)
Canonical SPDI:: NC_000005.10:6378452:G:A
Gene:: MED10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.6378453G>A, NC_000005.9:g.6378566G>A, NW_025791776.1:g.80627G>A, NM_032286.3:c.31C>T, NM_032286.2:c.31C>T, NP_115662.2:p.His11Tyr

Select item 14680328245.

rs1468032824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:6374414 (GRCh38)
5:6374527 (GRCh37)
Canonical SPDI:: NC_000005.10:6374413:T:C
Gene:: MED10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.6374414T>C, NC_000005.9:g.6374527T>C, NW_025791776.1:g.76588T>C, NM_032286.3:c.219A>G, NM_032286.2:c.219A>G

Select item 14657376316.

rs1465737631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:6378412 (GRCh38)
5:6378525 (GRCh37)
Canonical SPDI:: NC_000005.10:6378411:G:A
Gene:: MED10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.6378412G>A, NC_000005.9:g.6378525G>A, NW_025791776.1:g.80586G>A, NM_032286.3:c.72C>T, NM_032286.2:c.72C>T

Select item 14628421827.

rs1462842182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCGAATG [Show Flanks]
Chromosome:: 5:6378422 (GRCh38)
5:6378536 (GRCh37)
Canonical SPDI:: NC_000005.10:6378422:GCCGAATG:GCCGAATGGCCGAATG
Gene:: MED10 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GCCGAATGGCCGAATG=0.000111/1 (ALFA)
GCCGAATG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.6378423_6378430dup, NC_000005.9:g.6378536_6378543dup, NW_025791776.1:g.80597_80604dup, NM_032286.3:c.54_61dup, NM_032286.2:c.54_61dup, NP_115662.2:p.Gln21fs

Select item 14550012778.

rs1455001277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:6377206 (GRCh38)
5:6377319 (GRCh37)
Canonical SPDI:: NC_000005.10:6377205:G:A
Gene:: MED10 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.6377206G>A, NC_000005.9:g.6377319G>A, NW_025791776.1:g.79380G>A, NM_032286.3:c.166C>T, NM_032286.2:c.166C>T, NP_115662.2:p.Gln56Ter

Select item 14408920439.

rs1440892043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:6374382 (GRCh38)
5:6374495 (GRCh37)
Canonical SPDI:: NC_000005.10:6374381:C:T
Gene:: MED10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.6374382C>T, NC_000005.9:g.6374495C>T, NW_025791776.1:g.76556C>T, NM_032286.3:c.251G>A, NM_032286.2:c.251G>A, NP_115662.2:p.Cys84Tyr

Select item 142644066410.

rs1426440664 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:6378391 (GRCh38)
5:6378504 (GRCh37)
Canonical SPDI:: NC_000005.10:6378390:GGG:GG
Gene:: MED10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.6378393del, NC_000005.9:g.6378506del, NW_025791776.1:g.80567del, NM_032286.3:c.93del, NM_032286.2:c.93del, NP_115662.2:p.Ser32fs

Select item 142168273811.

rs1421682738 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:6377243 (GRCh38)
5:6377356 (GRCh37)
Canonical SPDI:: NC_000005.10:6377242:A:G
Gene:: MED10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.6377243A>G, NC_000005.9:g.6377356A>G, NW_025791776.1:g.79417A>G, NM_032286.3:c.129T>C, NM_032286.2:c.129T>C

Select item 142103659612.

rs1421036596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:6374409 (GRCh38)
5:6374522 (GRCh37)
Canonical SPDI:: NC_000005.10:6374408:C:T
Gene:: MED10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.6374409C>T, NC_000005.9:g.6374522C>T, NW_025791776.1:g.76583C>T, NM_032286.3:c.224G>A, NM_032286.2:c.224G>A, NP_115662.2:p.Arg75Gln

Select item 140650480013.

rs1406504800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:6377176 (GRCh38)
5:6377289 (GRCh37)
Canonical SPDI:: NC_000005.10:6377175:C:T
Gene:: MED10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000005.10:g.6377176C>T, NC_000005.9:g.6377289C>T, NW_025791776.1:g.79350C>T, NM_032286.3:c.196G>A, NM_032286.2:c.196G>A, NP_115662.2:p.Glu66Lys

Select item 139607978014.

rs1396079780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:6378466 (GRCh38)
5:6378579 (GRCh37)
Canonical SPDI:: NC_000005.10:6378465:G:A
Gene:: MED10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.6378466G>A, NC_000005.9:g.6378579G>A, NW_025791776.1:g.80640G>A, NM_032286.3:c.18C>T, NM_032286.2:c.18C>T

Select item 138927060615.

rs1389270606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:6378363 (GRCh38)
5:6378476 (GRCh37)
Canonical SPDI:: NC_000005.10:6378362:G:A,NC_000005.10:6378362:G:C
Gene:: MED10 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.6378363G>A, NC_000005.10:g.6378363G>C, NC_000005.9:g.6378476G>A, NC_000005.9:g.6378476G>C, NW_025791776.1:g.80537G>A, NW_025791776.1:g.80537G>C, NM_032286.3:c.121C>T, NM_032286.3:c.121C>G, NM_032286.2:c.121C>T, NM_032286.2:c.121C>G, NP_115662.2:p.Leu41Val

Select item 138456458916.

rs1384564589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:6378376 (GRCh38)
5:6378489 (GRCh37)
Canonical SPDI:: NC_000005.10:6378375:C:T
Gene:: MED10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.6378376C>T, NC_000005.9:g.6378489C>T, NW_025791776.1:g.80550C>T, NM_032286.3:c.108G>A, NM_032286.2:c.108G>A

Select item 138380661317.

rs1383806613 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:6374388 (GRCh38)
5:6374501 (GRCh37)
Canonical SPDI:: NC_000005.10:6374386:TTT:T
Gene:: MED10 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.6374388_6374389del, NC_000005.9:g.6374501_6374502del, NW_025791776.1:g.76562_76563del, NM_032286.3:c.245_246del, NM_032286.2:c.245_246del, NP_115662.2:p.Lys82fs

Select item 136621938118.

rs1366219381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:6378380 (GRCh38)
5:6378493 (GRCh37)
Canonical SPDI:: NC_000005.10:6378379:G:C
Gene:: MED10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.6378380G>C, NC_000005.9:g.6378493G>C, NW_025791776.1:g.80554G>C, NM_032286.3:c.104C>G, NM_032286.2:c.104C>G, NP_115662.2:p.Ala35Gly

Select item 136340745819.

rs1363407458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:6378430 (GRCh38)
5:6378543 (GRCh37)
Canonical SPDI:: NC_000005.10:6378429:G:A
Gene:: MED10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.6378430G>A, NC_000005.9:g.6378543G>A, NW_025791776.1:g.80604G>A, NM_032286.3:c.54C>T, NM_032286.2:c.54C>T

Select item 135045992920.

rs1350459929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:6378406 (GRCh38)
5:6378519 (GRCh37)
Canonical SPDI:: NC_000005.10:6378405:G:C
Gene:: MED10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.6378406G>C, NC_000005.9:g.6378519G>C, NW_025791776.1:g.80580G>C, NM_032286.3:c.78C>G, NM_032286.2:c.78C>G

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Items: 1 to 20 of 123

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