SNP Links for Protein (Select 24234690) - SNP

Links from Protein

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Select item 14904761021.

rs1490476102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94447247 (GRCh38)
11:94180413 (GRCh37)
Canonical SPDI:: NC_000011.10:94447246:T:C
Gene:: MRE11 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94447247T>C, NC_000011.9:g.94180413T>C, NG_007261.1:g.51628A>G, NM_005590.4:c.1755A>G, NM_005590.3:c.1755A>G, NM_005591.4:c.1755A>G, NM_005591.3:c.1755A>G, NM_001330347.2:c.1755A>G, NM_001330347.1:c.1755A>G, XM_006718842.4:c.1755A>G, XM_006718842.3:c.1755A>G, XM_006718842.2:c.1755A>G, XM_006718842.1:c.1755A>G, XM_005274008.4:c.1287A>G, XM_005274008.3:c.1287A>G, XM_005274008.2:c.1287A>G, XM_005274008.1:c.1287A>G, XM_011542837.3:c.1755A>G, XM_011542837.2:c.1755A>G, XM_011542837.1:c.1755A>G, XR_947828.3:n.2021A>G, XR_947828.2:n.2051A>G, XR_947828.1:n.2051A>G, XM_017017772.2:c.1755A>G, XM_017017772.1:c.1755A>G, XM_047426967.1:c.1755A>G, XM_047426968.1:c.876A>G, XR_007062483.1:n.2021A>G, XR_007062482.1:n.1914A>G, XR_007062484.1:n.1914A>G

Select item 14901005622.

rs1490100562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:94471738 (GRCh38)
11:94204904 (GRCh37)
Canonical SPDI:: NC_000011.10:94471737:G:A,NC_000011.10:94471737:G:C
Gene:: MRE11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,synonymous_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000024/6 (GnomAD_exomes)
A=0.000446/2 (Estonian)
HGVS:: NC_000011.10:g.94471738G>A, NC_000011.10:g.94471738G>C, NC_000011.9:g.94204904G>A, NC_000011.9:g.94204904G>C, NG_007261.1:g.27137C>T, NG_007261.1:g.27137C>G, NM_005590.4:c.681C>T, NM_005590.4:c.681C>G, NM_005590.3:c.681C>T, NM_005590.3:c.681C>G, NM_005591.4:c.681C>T, NM_005591.4:c.681C>G, NM_005591.3:c.681C>T, NM_005591.3:c.681C>G, NM_001330347.2:c.681C>T, NM_001330347.2:c.681C>G, NM_001330347.1:c.681C>T, NM_001330347.1:c.681C>G, XM_006718842.4:c.681C>T, XM_006718842.4:c.681C>G, XM_006718842.3:c.681C>T, XM_006718842.3:c.681C>G, XM_006718842.2:c.681C>T, XM_006718842.2:c.681C>G, XM_006718842.1:c.681C>T, XM_006718842.1:c.681C>G, XM_005274008.4:c.213C>T, XM_005274008.4:c.213C>G, XM_005274008.3:c.213C>T, XM_005274008.3:c.213C>G, XM_005274008.2:c.213C>T, XM_005274008.2:c.213C>G, XM_005274008.1:c.213C>T, XM_005274008.1:c.213C>G, XM_011542837.3:c.681C>T, XM_011542837.3:c.681C>G, XM_011542837.2:c.681C>T, XM_011542837.2:c.681C>G, XM_011542837.1:c.681C>T, XM_011542837.1:c.681C>G, XR_947828.3:n.947C>T, XR_947828.3:n.947C>G, XR_947828.2:n.977C>T, XR_947828.2:n.977C>G, XR_947828.1:n.977C>T, XR_947828.1:n.977C>G, XM_017017772.2:c.681C>T, XM_017017772.2:c.681C>G, XM_017017772.1:c.681C>T, XM_017017772.1:c.681C>G, XM_047426967.1:c.681C>T, XM_047426967.1:c.681C>G, XM_047426968.1:c.-199C>T, XM_047426968.1:c.-199C>G, XR_007062483.1:n.947C>T, XR_007062483.1:n.947C>G, XR_007062482.1:n.840C>T, XR_007062482.1:n.840C>G, XR_007062484.1:n.840C>T, XR_007062484.1:n.840C>G, NP_005581.2:p.Asn227Lys, NP_005582.1:p.Asn227Lys, NP_001317276.1:p.Asn227Lys, XP_006718905.1:p.Asn227Lys, XP_005274065.1:p.Asn71Lys, XP_011541139.1:p.Asn227Lys, XP_016873261.1:p.Asn227Lys, XP_047282923.1:p.Asn227Lys

Select item 14899510443.

rs1489951044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:94470482 (GRCh38)
11:94203648 (GRCh37)
Canonical SPDI:: NC_000011.10:94470481:A:T
Gene:: MRE11 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
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.94470482A>T, NC_000011.9:g.94203648A>T, NG_007261.1:g.28393T>A, NM_005590.4:c.1006T>A, NM_005590.3:c.1006T>A, NM_005591.4:c.1006T>A, NM_005591.3:c.1006T>A, NM_001330347.2:c.1006T>A, NM_001330347.1:c.1006T>A, XM_006718842.4:c.1006T>A, XM_006718842.3:c.1006T>A, XM_006718842.2:c.1006T>A, XM_006718842.1:c.1006T>A, XM_005274008.4:c.538T>A, XM_005274008.3:c.538T>A, XM_005274008.2:c.538T>A, XM_005274008.1:c.538T>A, XM_011542837.3:c.1006T>A, XM_011542837.2:c.1006T>A, XM_011542837.1:c.1006T>A, XR_947828.3:n.1272T>A, XR_947828.2:n.1302T>A, XR_947828.1:n.1302T>A, XM_017017772.2:c.1006T>A, XM_017017772.1:c.1006T>A, XM_047426967.1:c.1006T>A, XM_047426968.1:c.127T>A, XR_007062483.1:n.1272T>A, XR_007062482.1:n.1165T>A, XR_007062484.1:n.1165T>A, NP_005581.2:p.Cys336Ser, NP_005582.1:p.Cys336Ser, NP_001317276.1:p.Cys336Ser, XP_006718905.1:p.Cys336Ser, XP_005274065.1:p.Cys180Ser, XP_011541139.1:p.Cys336Ser, XP_016873261.1:p.Cys336Ser, XP_047282923.1:p.Cys336Ser, XP_047282924.1:p.Cys43Ser

Select item 14880403354.

rs1488040335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94470487 (GRCh38)
11:94203653 (GRCh37)
Canonical SPDI:: NC_000011.10:94470486:C:G
Gene:: MRE11 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94470487C>G, NC_000011.9:g.94203653C>G, NG_007261.1:g.28388G>C, NM_005590.4:c.1001G>C, NM_005590.3:c.1001G>C, NM_005591.4:c.1001G>C, NM_005591.3:c.1001G>C, NM_001330347.2:c.1001G>C, NM_001330347.1:c.1001G>C, XM_006718842.4:c.1001G>C, XM_006718842.3:c.1001G>C, XM_006718842.2:c.1001G>C, XM_006718842.1:c.1001G>C, XM_005274008.4:c.533G>C, XM_005274008.3:c.533G>C, XM_005274008.2:c.533G>C, XM_005274008.1:c.533G>C, XM_011542837.3:c.1001G>C, XM_011542837.2:c.1001G>C, XM_011542837.1:c.1001G>C, XR_947828.3:n.1267G>C, XR_947828.2:n.1297G>C, XR_947828.1:n.1297G>C, XM_017017772.2:c.1001G>C, XM_017017772.1:c.1001G>C, XM_047426967.1:c.1001G>C, XM_047426968.1:c.122G>C, XR_007062483.1:n.1267G>C, XR_007062482.1:n.1160G>C, XR_007062484.1:n.1160G>C, NP_005581.2:p.Ser334Thr, NP_005582.1:p.Ser334Thr, NP_001317276.1:p.Ser334Thr, XP_006718905.1:p.Ser334Thr, XP_005274065.1:p.Ser178Thr, XP_011541139.1:p.Ser334Thr, XP_016873261.1:p.Ser334Thr, XP_047282923.1:p.Ser334Thr, XP_047282924.1:p.Ser41Thr

Select item 14878755605.

rs1487875560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94479733 (GRCh38)
11:94212899 (GRCh37)
Canonical SPDI:: NC_000011.10:94479732:T:C
Gene:: MRE11 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94479733T>C, NC_000011.9:g.94212899T>C, NG_007261.1:g.19142A>G, NM_005590.4:c.343A>G, NM_005590.3:c.343A>G, NM_005591.4:c.343A>G, NM_005591.3:c.343A>G, NM_001330347.2:c.343A>G, NM_001330347.1:c.343A>G, XM_006718842.4:c.343A>G, XM_006718842.3:c.343A>G, XM_006718842.2:c.343A>G, XM_006718842.1:c.343A>G, XM_005274008.4:c.-126A>G, XM_005274008.3:c.-126A>G, XM_005274008.2:c.-126A>G, XM_005274008.1:c.-126A>G, XM_011542837.3:c.343A>G, XM_011542837.2:c.343A>G, XM_011542837.1:c.343A>G, XR_947828.3:n.609A>G, XR_947828.2:n.639A>G, XR_947828.1:n.639A>G, XM_017017772.2:c.343A>G, XM_017017772.1:c.343A>G, XM_047426967.1:c.343A>G, XR_007062483.1:n.609A>G, XR_007062482.1:n.502A>G, XR_007062484.1:n.502A>G, NP_005581.2:p.Asn115Asp, NP_005582.1:p.Asn115Asp, NP_001317276.1:p.Asn115Asp, XP_006718905.1:p.Asn115Asp, XP_011541139.1:p.Asn115Asp, XP_016873261.1:p.Asn115Asp, XP_047282923.1:p.Asn115Asp

Select item 14878436876.

rs1487843687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94492797 (GRCh38)
11:94225963 (GRCh37)
Canonical SPDI:: NC_000011.10:94492796:C:G
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94492797C>G, NC_000011.9:g.94225963C>G, NG_007261.1:g.6078G>C, NM_005590.4:c.5G>C, NM_005590.3:c.5G>C, NM_005591.4:c.5G>C, NM_005591.3:c.5G>C, NM_001330347.2:c.5G>C, NM_001330347.1:c.5G>C, XM_006718842.4:c.5G>C, XM_006718842.3:c.5G>C, XM_006718842.2:c.5G>C, XM_006718842.1:c.5G>C, XM_011542837.3:c.5G>C, XM_011542837.2:c.5G>C, XM_011542837.1:c.5G>C, XR_947828.3:n.271G>C, XR_947828.2:n.301G>C, XR_947828.1:n.301G>C, XM_017017772.2:c.5G>C, XM_017017772.1:c.5G>C, XM_047426967.1:c.5G>C, XR_007062483.1:n.271G>C, XR_007062482.1:n.164G>C, XR_007062484.1:n.164G>C, NP_005581.2:p.Ser2Thr, NP_005582.1:p.Ser2Thr, NP_001317276.1:p.Ser2Thr, XP_006718905.1:p.Ser2Thr, XP_011541139.1:p.Ser2Thr, XP_016873261.1:p.Ser2Thr, XP_047282923.1:p.Ser2Thr

Select item 14828900777.

rs1482890077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 11:94486065 (GRCh38)
11:94219231 (GRCh37)
Canonical SPDI:: NC_000011.10:94486064:C:A,NC_000011.10:94486064:C:G,NC_000011.10:94486064:C:T
Gene:: MRE11 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94486065C>A, NC_000011.10:g.94486065C>G, NC_000011.10:g.94486065C>T, NC_000011.9:g.94219231C>A, NC_000011.9:g.94219231C>G, NC_000011.9:g.94219231C>T, NG_007261.1:g.12810G>T, NG_007261.1:g.12810G>C, NG_007261.1:g.12810G>A, NM_005590.4:c.173G>T, NM_005590.4:c.173G>C, NM_005590.4:c.173G>A, NM_005590.3:c.173G>T, NM_005590.3:c.173G>C, NM_005590.3:c.173G>A, NM_005591.4:c.173G>T, NM_005591.4:c.173G>C, NM_005591.4:c.173G>A, NM_005591.3:c.173G>T, NM_005591.3:c.173G>C, NM_005591.3:c.173G>A, NM_001330347.2:c.173G>T, NM_001330347.2:c.173G>C, NM_001330347.2:c.173G>A, NM_001330347.1:c.173G>T, NM_001330347.1:c.173G>C, NM_001330347.1:c.173G>A, XM_006718842.4:c.173G>T, XM_006718842.4:c.173G>C, XM_006718842.4:c.173G>A, XM_006718842.3:c.173G>T, XM_006718842.3:c.173G>C, XM_006718842.3:c.173G>A, XM_006718842.2:c.173G>T, XM_006718842.2:c.173G>C, XM_006718842.2:c.173G>A, XM_006718842.1:c.173G>T, XM_006718842.1:c.173G>C, XM_006718842.1:c.173G>A, XM_011542837.3:c.173G>T, XM_011542837.3:c.173G>C, XM_011542837.3:c.173G>A, XM_011542837.2:c.173G>T, XM_011542837.2:c.173G>C, XM_011542837.2:c.173G>A, XM_011542837.1:c.173G>T, XM_011542837.1:c.173G>C, XM_011542837.1:c.173G>A, XR_947828.3:n.439G>T, XR_947828.3:n.439G>C, XR_947828.3:n.439G>A, XR_947828.2:n.469G>T, XR_947828.2:n.469G>C, XR_947828.2:n.469G>A, XR_947828.1:n.469G>T, XR_947828.1:n.469G>C, XR_947828.1:n.469G>A, XM_017017772.2:c.173G>T, XM_017017772.2:c.173G>C, XM_017017772.2:c.173G>A, XM_017017772.1:c.173G>T, XM_017017772.1:c.173G>C, XM_017017772.1:c.173G>A, XM_047426967.1:c.173G>T, XM_047426967.1:c.173G>C, XM_047426967.1:c.173G>A, XR_007062483.1:n.439G>T, XR_007062483.1:n.439G>C, XR_007062483.1:n.439G>A, XR_007062482.1:n.332G>T, XR_007062482.1:n.332G>C, XR_007062482.1:n.332G>A, XR_007062484.1:n.332G>T, XR_007062484.1:n.332G>C, XR_007062484.1:n.332G>A, NP_005581.2:p.Gly58Val, NP_005581.2:p.Gly58Ala, NP_005581.2:p.Gly58Asp, NP_005582.1:p.Gly58Val, NP_005582.1:p.Gly58Ala, NP_005582.1:p.Gly58Asp, NP_001317276.1:p.Gly58Val, NP_001317276.1:p.Gly58Ala, NP_001317276.1:p.Gly58Asp, XP_006718905.1:p.Gly58Val, XP_006718905.1:p.Gly58Ala, XP_006718905.1:p.Gly58Asp, XP_011541139.1:p.Gly58Val, XP_011541139.1:p.Gly58Ala, XP_011541139.1:p.Gly58Asp, XP_016873261.1:p.Gly58Val, XP_016873261.1:p.Gly58Ala, XP_016873261.1:p.Gly58Asp, XP_047282923.1:p.Gly58Val, XP_047282923.1:p.Gly58Ala, XP_047282923.1:p.Gly58Asp

Select item 14824540298.

rs1482454029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94485987 (GRCh38)
11:94219153 (GRCh37)
Canonical SPDI:: NC_000011.10:94485986:A:G
Gene:: MRE11 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Clinical significance:: uncertain-significance
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.94485987A>G, NC_000011.9:g.94219153A>G, NG_007261.1:g.12888T>C, NM_005590.4:c.251T>C, NM_005590.3:c.251T>C, NM_005591.4:c.251T>C, NM_005591.3:c.251T>C, NM_001330347.2:c.251T>C, NM_001330347.1:c.251T>C, XM_006718842.4:c.251T>C, XM_006718842.3:c.251T>C, XM_006718842.2:c.251T>C, XM_006718842.1:c.251T>C, XM_005274008.4:c.-214T>C, XM_005274008.3:c.-214T>C, XM_005274008.2:c.-214T>C, XM_005274008.1:c.-214T>C, XM_011542837.3:c.251T>C, XM_011542837.2:c.251T>C, XM_011542837.1:c.251T>C, XR_947828.3:n.517T>C, XR_947828.2:n.547T>C, XR_947828.1:n.547T>C, XM_017017772.2:c.251T>C, XM_017017772.1:c.251T>C, XM_047426967.1:c.251T>C, XR_007062483.1:n.517T>C, XR_007062482.1:n.410T>C, XR_007062484.1:n.410T>C, NP_005581.2:p.Met84Thr, NP_005582.1:p.Met84Thr, NP_001317276.1:p.Met84Thr, XP_006718905.1:p.Met84Thr, XP_011541139.1:p.Met84Thr, XP_016873261.1:p.Met84Thr, XP_047282923.1:p.Met84Thr

Select item 14819688239.

rs1481968823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94471728 (GRCh38)
11:94204894 (GRCh37)
Canonical SPDI:: NC_000011.10:94471727:C:G
Gene:: MRE11 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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.94471728C>G, NC_000011.9:g.94204894C>G, NG_007261.1:g.27147G>C, NM_005590.4:c.691G>C, NM_005590.3:c.691G>C, NM_005591.4:c.691G>C, NM_005591.3:c.691G>C, NM_001330347.2:c.691G>C, NM_001330347.1:c.691G>C, XM_006718842.4:c.691G>C, XM_006718842.3:c.691G>C, XM_006718842.2:c.691G>C, XM_006718842.1:c.691G>C, XM_005274008.4:c.223G>C, XM_005274008.3:c.223G>C, XM_005274008.2:c.223G>C, XM_005274008.1:c.223G>C, XM_011542837.3:c.691G>C, XM_011542837.2:c.691G>C, XM_011542837.1:c.691G>C, XR_947828.3:n.957G>C, XR_947828.2:n.987G>C, XR_947828.1:n.987G>C, XM_017017772.2:c.691G>C, XM_017017772.1:c.691G>C, XM_047426967.1:c.691G>C, XM_047426968.1:c.-189G>C, XR_007062483.1:n.957G>C, XR_007062482.1:n.850G>C, XR_007062484.1:n.850G>C, NP_005581.2:p.Glu231Gln, NP_005582.1:p.Glu231Gln, NP_001317276.1:p.Glu231Gln, XP_006718905.1:p.Glu231Gln, XP_005274065.1:p.Glu75Gln, XP_011541139.1:p.Glu231Gln, XP_016873261.1:p.Glu231Gln, XP_047282923.1:p.Glu231Gln

Select item 148165010110.

rs1481650101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94459562 (GRCh38)
11:94192728 (GRCh37)
Canonical SPDI:: NC_000011.10:94459561:A:G
Gene:: MRE11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94459562A>G, NC_000011.9:g.94192728A>G, NG_007261.1:g.39313T>C, NM_005590.4:c.1346T>C, NM_005590.3:c.1346T>C, NM_005591.4:c.1346T>C, NM_005591.3:c.1346T>C, NM_001330347.2:c.1346T>C, NM_001330347.1:c.1346T>C, XM_006718842.4:c.1346T>C, XM_006718842.3:c.1346T>C, XM_006718842.2:c.1346T>C, XM_006718842.1:c.1346T>C, XM_005274008.4:c.878T>C, XM_005274008.3:c.878T>C, XM_005274008.2:c.878T>C, XM_005274008.1:c.878T>C, XM_011542837.3:c.1346T>C, XM_011542837.2:c.1346T>C, XM_011542837.1:c.1346T>C, XR_947828.3:n.1612T>C, XR_947828.2:n.1642T>C, XR_947828.1:n.1642T>C, XM_017017772.2:c.1346T>C, XM_017017772.1:c.1346T>C, XM_047426967.1:c.1346T>C, XM_047426968.1:c.467T>C, XR_007062483.1:n.1612T>C, XR_007062482.1:n.1505T>C, XR_007062484.1:n.1505T>C, NP_005581.2:p.Leu449Pro, NP_005582.1:p.Leu449Pro, NP_001317276.1:p.Leu449Pro, XP_006718905.1:p.Leu449Pro, XP_005274065.1:p.Leu293Pro, XP_011541139.1:p.Leu449Pro, XP_016873261.1:p.Leu449Pro, XP_047282923.1:p.Leu449Pro, XP_047282924.1:p.Leu156Pro

Select item 147669100011.

rs1476691000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:94456314 (GRCh38)
11:94189480 (GRCh37)
Canonical SPDI:: NC_000011.10:94456313:G:T
Gene:: MRE11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0004/2 (ALFA)
HGVS:: NC_000011.10:g.94456314G>T, NC_000011.9:g.94189480G>T, NG_007261.1:g.42561C>A, NM_005590.4:c.1525C>A, NM_005590.3:c.1525C>A, NM_005591.4:c.1525C>A, NM_005591.3:c.1525C>A, NM_001330347.2:c.1525C>A, NM_001330347.1:c.1525C>A, XM_006718842.4:c.1525C>A, XM_006718842.3:c.1525C>A, XM_006718842.2:c.1525C>A, XM_006718842.1:c.1525C>A, XM_005274008.4:c.1057C>A, XM_005274008.3:c.1057C>A, XM_005274008.2:c.1057C>A, XM_005274008.1:c.1057C>A, XM_011542837.3:c.1525C>A, XM_011542837.2:c.1525C>A, XM_011542837.1:c.1525C>A, XR_947828.3:n.1791C>A, XR_947828.2:n.1821C>A, XR_947828.1:n.1821C>A, XM_017017772.2:c.1525C>A, XM_017017772.1:c.1525C>A, XM_047426967.1:c.1525C>A, XM_047426968.1:c.646C>A, XR_007062483.1:n.1791C>A, XR_007062482.1:n.1684C>A, XR_007062484.1:n.1684C>A, NP_005581.2:p.Gln509Lys, NP_005582.1:p.Gln509Lys, NP_001317276.1:p.Gln509Lys, XP_006718905.1:p.Gln509Lys, XP_005274065.1:p.Gln353Lys, XP_011541139.1:p.Gln509Lys, XP_016873261.1:p.Gln509Lys, XP_047282923.1:p.Gln509Lys, XP_047282924.1:p.Gln216Lys

Select item 147555813312.

rs1475558133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94490924 (GRCh38)
11:94224090 (GRCh37)
Canonical SPDI:: NC_000011.10:94490923:A:G
Gene:: MRE11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94490924A>G, NC_000011.9:g.94224090A>G, NG_007261.1:g.7951T>C, NM_005590.4:c.62T>C, NM_005590.3:c.62T>C, NM_005591.4:c.62T>C, NM_005591.3:c.62T>C, NM_001330347.2:c.62T>C, NM_001330347.1:c.62T>C, XM_006718842.4:c.62T>C, XM_006718842.3:c.62T>C, XM_006718842.2:c.62T>C, XM_006718842.1:c.62T>C, XM_011542837.3:c.62T>C, XM_011542837.2:c.62T>C, XM_011542837.1:c.62T>C, XR_947828.3:n.328T>C, XR_947828.2:n.358T>C, XR_947828.1:n.358T>C, XM_017017772.2:c.62T>C, XM_017017772.1:c.62T>C, XM_047426967.1:c.62T>C, XR_007062483.1:n.328T>C, XR_007062482.1:n.221T>C, XR_007062484.1:n.221T>C, NP_005581.2:p.Ile21Thr, NP_005582.1:p.Ile21Thr, NP_001317276.1:p.Ile21Thr, XP_006718905.1:p.Ile21Thr, XP_011541139.1:p.Ile21Thr, XP_016873261.1:p.Ile21Thr, XP_047282923.1:p.Ile21Thr

Select item 147445512613.

rs1474455126 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94470603 (GRCh38)
11:94203769 (GRCh37)
Canonical SPDI:: NC_000011.10:94470602:A:G
Gene:: MRE11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94470603A>G, NC_000011.9:g.94203769A>G, NG_007261.1:g.28272T>C, NM_005590.4:c.885T>C, NM_005590.3:c.885T>C, NM_005591.4:c.885T>C, NM_005591.3:c.885T>C, NM_001330347.2:c.885T>C, NM_001330347.1:c.885T>C, XM_006718842.4:c.885T>C, XM_006718842.3:c.885T>C, XM_006718842.2:c.885T>C, XM_006718842.1:c.885T>C, XM_005274008.4:c.417T>C, XM_005274008.3:c.417T>C, XM_005274008.2:c.417T>C, XM_005274008.1:c.417T>C, XM_011542837.3:c.885T>C, XM_011542837.2:c.885T>C, XM_011542837.1:c.885T>C, XR_947828.3:n.1151T>C, XR_947828.2:n.1181T>C, XR_947828.1:n.1181T>C, XM_017017772.2:c.885T>C, XM_017017772.1:c.885T>C, XM_047426967.1:c.885T>C, XM_047426968.1:c.6T>C, XR_007062483.1:n.1151T>C, XR_007062482.1:n.1044T>C, XR_007062484.1:n.1044T>C

Select item 147310312414.

rs1473103124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 11:94470510 (GRCh38)
11:94203676 (GRCh37)
Canonical SPDI:: NC_000011.10:94470509:A:C,NC_000011.10:94470509:A:T
Gene:: MRE11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.94470510A>C, NC_000011.10:g.94470510A>T, NC_000011.9:g.94203676A>C, NC_000011.9:g.94203676A>T, NG_007261.1:g.28365T>G, NG_007261.1:g.28365T>A, NM_005590.4:c.978T>G, NM_005590.4:c.978T>A, NM_005590.3:c.978T>G, NM_005590.3:c.978T>A, NM_005591.4:c.978T>G, NM_005591.4:c.978T>A, NM_005591.3:c.978T>G, NM_005591.3:c.978T>A, NM_001330347.2:c.978T>G, NM_001330347.2:c.978T>A, NM_001330347.1:c.978T>G, NM_001330347.1:c.978T>A, XM_006718842.4:c.978T>G, XM_006718842.4:c.978T>A, XM_006718842.3:c.978T>G, XM_006718842.3:c.978T>A, XM_006718842.2:c.978T>G, XM_006718842.2:c.978T>A, XM_006718842.1:c.978T>G, XM_006718842.1:c.978T>A, XM_005274008.4:c.510T>G, XM_005274008.4:c.510T>A, XM_005274008.3:c.510T>G, XM_005274008.3:c.510T>A, XM_005274008.2:c.510T>G, XM_005274008.2:c.510T>A, XM_005274008.1:c.510T>G, XM_005274008.1:c.510T>A, XM_011542837.3:c.978T>G, XM_011542837.3:c.978T>A, XM_011542837.2:c.978T>G, XM_011542837.2:c.978T>A, XM_011542837.1:c.978T>G, XM_011542837.1:c.978T>A, XR_947828.3:n.1244T>G, XR_947828.3:n.1244T>A, XR_947828.2:n.1274T>G, XR_947828.2:n.1274T>A, XR_947828.1:n.1274T>G, XR_947828.1:n.1274T>A, XM_017017772.2:c.978T>G, XM_017017772.2:c.978T>A, XM_017017772.1:c.978T>G, XM_017017772.1:c.978T>A, XM_047426967.1:c.978T>G, XM_047426967.1:c.978T>A, XM_047426968.1:c.99T>G, XM_047426968.1:c.99T>A, XR_007062483.1:n.1244T>G, XR_007062483.1:n.1244T>A, XR_007062482.1:n.1137T>G, XR_007062482.1:n.1137T>A, XR_007062484.1:n.1137T>G, XR_007062484.1:n.1137T>A

Select item 147295929515.

rs1472959295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94476328 (GRCh38)
11:94209494 (GRCh37)
Canonical SPDI:: NC_000011.10:94476327:T:C
Gene:: MRE11 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94476328T>C, NC_000011.9:g.94209494T>C, NG_007261.1:g.22547A>G, NM_005590.4:c.620A>G, NM_005590.3:c.620A>G, NM_005591.4:c.620A>G, NM_005591.3:c.620A>G, NM_001330347.2:c.620A>G, NM_001330347.1:c.620A>G, XM_006718842.4:c.620A>G, XM_006718842.3:c.620A>G, XM_006718842.2:c.620A>G, XM_006718842.1:c.620A>G, XM_005274008.4:c.152A>G, XM_005274008.3:c.152A>G, XM_005274008.2:c.152A>G, XM_005274008.1:c.152A>G, XM_011542837.3:c.620A>G, XM_011542837.2:c.620A>G, XM_011542837.1:c.620A>G, XR_947828.3:n.886A>G, XR_947828.2:n.916A>G, XR_947828.1:n.916A>G, XM_017017772.2:c.620A>G, XM_017017772.1:c.620A>G, XM_047426967.1:c.620A>G, XR_007062483.1:n.886A>G, XR_007062482.1:n.779A>G, XR_007062484.1:n.779A>G, NP_005581.2:p.Glu207Gly, NP_005582.1:p.Glu207Gly, NP_001317276.1:p.Glu207Gly, XP_006718905.1:p.Glu207Gly, XP_005274065.1:p.Glu51Gly, XP_011541139.1:p.Glu207Gly, XP_016873261.1:p.Glu207Gly, XP_047282923.1:p.Glu207Gly

Select item 146850037316.

rs1468500373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94471656 (GRCh38)
11:94204822 (GRCh37)
Canonical SPDI:: NC_000011.10:94471655:T:C
Gene:: MRE11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
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.94471656T>C, NC_000011.9:g.94204822T>C, NG_007261.1:g.27219A>G, NM_005590.4:c.763A>G, NM_005590.3:c.763A>G, NM_005591.4:c.763A>G, NM_005591.3:c.763A>G, NM_001330347.2:c.763A>G, NM_001330347.1:c.763A>G, XM_006718842.4:c.763A>G, XM_006718842.3:c.763A>G, XM_006718842.2:c.763A>G, XM_006718842.1:c.763A>G, XM_005274008.4:c.295A>G, XM_005274008.3:c.295A>G, XM_005274008.2:c.295A>G, XM_005274008.1:c.295A>G, XM_011542837.3:c.763A>G, XM_011542837.2:c.763A>G, XM_011542837.1:c.763A>G, XR_947828.3:n.1029A>G, XR_947828.2:n.1059A>G, XR_947828.1:n.1059A>G, XM_017017772.2:c.763A>G, XM_017017772.1:c.763A>G, XM_047426967.1:c.763A>G, XM_047426968.1:c.-117A>G, XR_007062483.1:n.1029A>G, XR_007062482.1:n.922A>G, XR_007062484.1:n.922A>G, NP_005581.2:p.Lys255Glu, NP_005582.1:p.Lys255Glu, NP_001317276.1:p.Lys255Glu, XP_006718905.1:p.Lys255Glu, XP_005274065.1:p.Lys99Glu, XP_011541139.1:p.Lys255Glu, XP_016873261.1:p.Lys255Glu, XP_047282923.1:p.Lys255Glu

Select item 146420511317.

rs1464205113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94420149 (GRCh38)
11:94153315 (GRCh37)
Canonical SPDI:: NC_000011.10:94420148:A:G
Gene:: MRE11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94420149A>G, NC_000011.9:g.94153315A>G, NG_007261.1:g.78726T>C, NM_005590.4:c.2019T>C, NM_005590.3:c.2019T>C, NM_005591.4:c.2103T>C, NM_005591.3:c.2103T>C, NM_001330347.2:c.2100T>C, NM_001330347.1:c.2100T>C, XM_006718842.4:c.2100T>C, XM_006718842.3:c.2100T>C, XM_006718842.2:c.2100T>C, XM_006718842.1:c.2100T>C, XM_005274008.4:c.1635T>C, XM_005274008.3:c.1635T>C, XM_005274008.2:c.1635T>C, XM_005274008.1:c.1635T>C, XM_011542837.3:c.2103T>C, XM_011542837.2:c.2103T>C, XM_011542837.1:c.2103T>C, XR_947828.3:n.2369T>C, XR_947828.2:n.2399T>C, XR_947828.1:n.2399T>C, XM_017017772.2:c.2103T>C, XM_017017772.1:c.2103T>C, XM_047426967.1:c.2019T>C, XM_047426968.1:c.1224T>C, XR_007062483.1:n.2366T>C, XR_007062482.1:n.2262T>C, XR_007062484.1:n.2178T>C

Select item 146195651818.

rs1461956518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:94471695 (GRCh38)
11:94204861 (GRCh37)
Canonical SPDI:: NC_000011.10:94471694:T:A
Gene:: MRE11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.94471695T>A, NC_000011.9:g.94204861T>A, NG_007261.1:g.27180A>T, NM_005590.4:c.724A>T, NM_005590.3:c.724A>T, NM_005591.4:c.724A>T, NM_005591.3:c.724A>T, NM_001330347.2:c.724A>T, NM_001330347.1:c.724A>T, XM_006718842.4:c.724A>T, XM_006718842.3:c.724A>T, XM_006718842.2:c.724A>T, XM_006718842.1:c.724A>T, XM_005274008.4:c.256A>T, XM_005274008.3:c.256A>T, XM_005274008.2:c.256A>T, XM_005274008.1:c.256A>T, XM_011542837.3:c.724A>T, XM_011542837.2:c.724A>T, XM_011542837.1:c.724A>T, XR_947828.3:n.990A>T, XR_947828.2:n.1020A>T, XR_947828.1:n.1020A>T, XM_017017772.2:c.724A>T, XM_017017772.1:c.724A>T, XM_047426967.1:c.724A>T, XM_047426968.1:c.-156A>T, XR_007062483.1:n.990A>T, XR_007062482.1:n.883A>T, XR_007062484.1:n.883A>T, NP_005581.2:p.Ile242Phe, NP_005582.1:p.Ile242Phe, NP_001317276.1:p.Ile242Phe, XP_006718905.1:p.Ile242Phe, XP_005274065.1:p.Ile86Phe, XP_011541139.1:p.Ile242Phe, XP_016873261.1:p.Ile242Phe, XP_047282923.1:p.Ile242Phe

Select item 146189769519.

rs1461897695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:94459546 (GRCh38)
11:94192712 (GRCh37)
Canonical SPDI:: NC_000011.10:94459545:C:G,NC_000011.10:94459545:C:T
Gene:: MRE11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94459546C>G, NC_000011.10:g.94459546C>T, NC_000011.9:g.94192712C>G, NC_000011.9:g.94192712C>T, NG_007261.1:g.39329G>C, NG_007261.1:g.39329G>A, NM_005590.4:c.1362G>C, NM_005590.4:c.1362G>A, NM_005590.3:c.1362G>C, NM_005590.3:c.1362G>A, NM_005591.4:c.1362G>C, NM_005591.4:c.1362G>A, NM_005591.3:c.1362G>C, NM_005591.3:c.1362G>A, NM_001330347.2:c.1362G>C, NM_001330347.2:c.1362G>A, NM_001330347.1:c.1362G>C, NM_001330347.1:c.1362G>A, XM_006718842.4:c.1362G>C, XM_006718842.4:c.1362G>A, XM_006718842.3:c.1362G>C, XM_006718842.3:c.1362G>A, XM_006718842.2:c.1362G>C, XM_006718842.2:c.1362G>A, XM_006718842.1:c.1362G>C, XM_006718842.1:c.1362G>A, XM_005274008.4:c.894G>C, XM_005274008.4:c.894G>A, XM_005274008.3:c.894G>C, XM_005274008.3:c.894G>A, XM_005274008.2:c.894G>C, XM_005274008.2:c.894G>A, XM_005274008.1:c.894G>C, XM_005274008.1:c.894G>A, XM_011542837.3:c.1362G>C, XM_011542837.3:c.1362G>A, XM_011542837.2:c.1362G>C, XM_011542837.2:c.1362G>A, XM_011542837.1:c.1362G>C, XM_011542837.1:c.1362G>A, XR_947828.3:n.1628G>C, XR_947828.3:n.1628G>A, XR_947828.2:n.1658G>C, XR_947828.2:n.1658G>A, XR_947828.1:n.1658G>C, XR_947828.1:n.1658G>A, XM_017017772.2:c.1362G>C, XM_017017772.2:c.1362G>A, XM_017017772.1:c.1362G>C, XM_017017772.1:c.1362G>A, XM_047426967.1:c.1362G>C, XM_047426967.1:c.1362G>A, XM_047426968.1:c.483G>C, XM_047426968.1:c.483G>A, XR_007062483.1:n.1628G>C, XR_007062483.1:n.1628G>A, XR_007062482.1:n.1521G>C, XR_007062482.1:n.1521G>A, XR_007062484.1:n.1521G>C, XR_007062484.1:n.1521G>A, NP_005581.2:p.Met454Ile, NP_005581.2:p.Met454Ile, NP_005582.1:p.Met454Ile, NP_005582.1:p.Met454Ile, NP_001317276.1:p.Met454Ile, NP_001317276.1:p.Met454Ile, XP_006718905.1:p.Met454Ile, XP_006718905.1:p.Met454Ile, XP_005274065.1:p.Met298Ile, XP_005274065.1:p.Met298Ile, XP_011541139.1:p.Met454Ile, XP_011541139.1:p.Met454Ile, XP_016873261.1:p.Met454Ile, XP_016873261.1:p.Met454Ile, XP_047282923.1:p.Met454Ile, XP_047282923.1:p.Met454Ile, XP_047282924.1:p.Met161Ile, XP_047282924.1:p.Met161Ile

Select item 146146640520.

rs1461466405 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94492794 (GRCh38)
11:94225960 (GRCh37)
Canonical SPDI:: NC_000011.10:94492793:G:A
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94492794G>A, NC_000011.9:g.94225960G>A, NG_007261.1:g.6081C>T, NM_005590.4:c.8C>T, NM_005590.3:c.8C>T, NM_005591.4:c.8C>T, NM_005591.3:c.8C>T, NM_001330347.2:c.8C>T, NM_001330347.1:c.8C>T, XM_006718842.4:c.8C>T, XM_006718842.3:c.8C>T, XM_006718842.2:c.8C>T, XM_006718842.1:c.8C>T, XM_011542837.3:c.8C>T, XM_011542837.2:c.8C>T, XM_011542837.1:c.8C>T, XR_947828.3:n.274C>T, XR_947828.2:n.304C>T, XR_947828.1:n.304C>T, XM_017017772.2:c.8C>T, XM_017017772.1:c.8C>T, XM_047426967.1:c.8C>T, XR_007062483.1:n.274C>T, XR_007062482.1:n.167C>T, XR_007062484.1:n.167C>T, NP_005581.2:p.Thr3Ile, NP_005582.1:p.Thr3Ile, NP_001317276.1:p.Thr3Ile, XP_006718905.1:p.Thr3Ile, XP_011541139.1:p.Thr3Ile, XP_016873261.1:p.Thr3Ile, XP_047282923.1:p.Thr3Ile

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