SNP Links for Gene (Select 54851) - SNP

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Items: 1 to 20 of 1717

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Select item 14909198421.

rs1490919842 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:94493007 (GRCh38)
11:94226173 (GRCh37)
Canonical SPDI:: NC_000011.10:94493006:T:
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94493007del, NC_000011.9:g.94226173del, NG_007261.1:g.5868del

Select item 14904012602.

rs1490401260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94497291 (GRCh38)
11:94230457 (GRCh37)
Canonical SPDI:: NC_000011.10:94497290:T:C
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
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.94497291T>C, NC_000011.9:g.94230457T>C, NG_007261.1:g.1584A>G

Select item 14903495633.

rs1490349563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94495387 (GRCh38)
11:94228553 (GRCh37)
Canonical SPDI:: NC_000011.10:94495386:T:C
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
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.94495387T>C, NC_000011.9:g.94228553T>C, NG_007261.1:g.3488A>G

Select item 14902617534.

rs1490261753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94497910 (GRCh38)
11:94231076 (GRCh37)
Canonical SPDI:: NC_000011.10:94497909:T:C
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.94497910T>C, NC_000011.9:g.94231076T>C, NG_007261.1:g.965A>G

Select item 14892683835.

rs1489268383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94494834 (GRCh38)
11:94228000 (GRCh37)
Canonical SPDI:: NC_000011.10:94494833:A:G
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000011.10:g.94494834A>G, NC_000011.9:g.94228000A>G, NG_007261.1:g.4041T>C

Select item 14889873256.

rs1488987325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94498390 (GRCh38)
11:94231556 (GRCh37)
Canonical SPDI:: NC_000011.10:94498389:T:C
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94498390T>C, NC_000011.9:g.94231556T>C, NG_007261.1:g.485A>G, NM_017704.3:c.578T>C, NM_017704.2:c.578T>C, XM_017017941.2:c.578T>C, XM_017017941.1:c.578T>C, NP_060174.2:p.Leu193Pro, XP_016873430.1:p.Leu193Pro

Select item 14888057727.

rs1488805772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94496008 (GRCh38)
11:94229174 (GRCh37)
Canonical SPDI:: NC_000011.10:94496007:T:C
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.94496008T>C, NC_000011.9:g.94229174T>C, NG_007261.1:g.2867A>G

Select item 14887544108.

rs1488754410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:94494675 (GRCh38)
11:94227841 (GRCh37)
Canonical SPDI:: NC_000011.10:94494674:C:T
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
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.94494675C>T, NC_000011.9:g.94227841C>T, NG_007261.1:g.4200G>A

Select item 14887227029.

rs1488722702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:94495414 (GRCh38)
11:94228580 (GRCh37)
Canonical SPDI:: NC_000011.10:94495413:C:A
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94495414C>A, NC_000011.9:g.94228580C>A, NG_007261.1:g.3461G>T

Select item 148843440710.

rs1488434407 [Homo sapiens]

Variant type:: DEL
Alleles:: CAGC>- [Show Flanks]
Chromosome:: 11:94498068 (GRCh38)
11:94231234 (GRCh37)
Canonical SPDI:: NC_000011.10:94498067:CAGC:
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,splice_acceptor_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00134/18 (ALFA)
HGVS:: NC_000011.10:g.94498068_94498071del, NC_000011.9:g.94231234_94231237del, NG_007261.1:g.804_807del

Select item 148784368711.

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 148714513412.

rs1487145134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:94493948 (GRCh38)
11:94227114 (GRCh37)
Canonical SPDI:: NC_000011.10:94493947:C:T
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
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.94493948C>T, NC_000011.9:g.94227114C>T, NG_007261.1:g.4927G>A

Select item 148708376113.

rs1487083761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:94494848 (GRCh38)
11:94228014 (GRCh37)
Canonical SPDI:: NC_000011.10:94494847:C:A
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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.94494848C>A, NC_000011.9:g.94228014C>A, NG_007261.1:g.4027G>T

Select item 148693310314.

rs1486933103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94492583 (GRCh38)
11:94225749 (GRCh37)
Canonical SPDI:: NC_000011.10:94492582:A:G
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.94492583A>G, NC_000011.9:g.94225749A>G, NG_007261.1:g.6292T>C

Select item 148691016415.

rs1486910164 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTA>- [Show Flanks]
Chromosome:: 11:94493000 (GRCh38)
11:94226166 (GRCh37)
Canonical SPDI:: NC_000011.10:94492996:TTAATTA:TTA
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.94493000_94493003del, NC_000011.9:g.94226166_94226169del, NG_007261.1:g.5875_5878del

Select item 148666923416.

rs1486669234 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTCTGCTT>- [Show Flanks]
Chromosome:: 11:94497402 (GRCh38)
11:94230568 (GRCh37)
Canonical SPDI:: NC_000011.10:94497399:TTCCCTCTGCTT:TT
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000011.10:g.94497402_94497411del, NC_000011.9:g.94230568_94230577del, NG_007261.1:g.1466_1475del

Select item 148655694017.

rs1486556940 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:94498660 (GRCh38)
11:94231826 (GRCh37)
Canonical SPDI:: NC_000011.10:94498659:CC:C
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94498661del, NC_000011.9:g.94231827del, NG_007261.1:g.215del, NM_017704.3:c.*129del, NM_017704.2:c.*129del, XM_017017941.2:c.*129del, XM_017017941.1:c.*129del

Select item 148530126418.

rs1485301264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:94492098 (GRCh38)
11:94225264 (GRCh37)
Canonical SPDI:: NC_000011.10:94492097:T:A
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94492098T>A, NC_000011.9:g.94225264T>A, NG_007261.1:g.6777A>T

Select item 148518808419.

rs1485188084 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94493206 (GRCh38)
11:94226372 (GRCh37)
Canonical SPDI:: NC_000011.10:94493205:G:A
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000142/2 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000011.10:g.94493206G>A, NC_000011.9:g.94226372G>A, NG_007261.1:g.5669C>T

Select item 148486400820.

rs1484864008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:94492668 (GRCh38)
11:94225834 (GRCh37)
Canonical SPDI:: NC_000011.10:94492667:C:A,NC_000011.10:94492667:C:G
Gene:: MRE11 (Varview), ANKRD49 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94492668C>A, NC_000011.10:g.94492668C>G, NC_000011.9:g.94225834C>A, NC_000011.9:g.94225834C>G, NG_007261.1:g.6207G>T, NG_007261.1:g.6207G>C

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