SNP Links for Protein (Select 7710145) - SNP

Links from Protein

Items: 1 to 20 of 344

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Select item 14896039071.

rs1489603907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 18:54203044 (GRCh38)
18:51729414 (GRCh37)
Canonical SPDI:: NC_000018.10:54203043:A:C
Gene:: MBD2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54203044A>C, NC_000018.9:g.51729414A>C, NG_029550.1:g.26745T>G, NM_015832.6:c.761T>G, NM_015832.5:c.761T>G, NM_015832.4:c.761T>G, NP_056647.1:p.Leu254Arg

Select item 14893016292.

rs1489301629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:54224101 (GRCh38)
18:51750471 (GRCh37)
Canonical SPDI:: NC_000018.10:54224100:C:T
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.54224101C>T, NC_000018.9:g.51750471C>T, NG_029550.1:g.5688G>A, NM_015832.6:c.459G>A, NM_015832.5:c.459G>A, NM_015832.4:c.459G>A, NM_003927.5:c.459G>A, NM_003927.4:c.459G>A

Select item 14886704773.

rs1488670477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54224556 (GRCh38)
18:51750926 (GRCh37)
Canonical SPDI:: NC_000018.10:54224555:G:A
Gene:: MBD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.0009/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54224556G>A, NC_000018.9:g.51750926G>A, NG_029550.1:g.5233C>T, NM_015832.6:c.4C>T, NM_015832.5:c.4C>T, NM_015832.4:c.4C>T, NM_003927.5:c.4C>T, NM_003927.4:c.4C>T, NP_056647.1:p.Arg2Cys, NP_003918.1:p.Arg2Cys

Select item 14882424324.

rs1488242432 has merged into rs1192209202 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCCCGGCCCCG>-,GCCCCG,GCCCCGGCCCCGGCCCCG [Show Flanks]
Chromosome:: 18:54224287 (GRCh38)
18:51750657 (GRCh37)
Canonical SPDI:: NC_000018.10:54224278:CGGCCCCGGCCCCGGCCCCG:CGGCCCCG,NC_000018.10:54224278:CGGCCCCGGCCCCGGCCCCG:CGGCCCCGGCCCCG,NC_000018.10:54224278:CGGCCCCGGCCCCGGCCCCG:CGGCCCCGGCCCCGGCCCCGGCCCCG
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,inframe_deletion,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCCCCGGCCCCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
CGGCCC=0.000035/1 (TOMMO)
CGGCCC=0.000596/1 (Korea1K)
HGVS:: NC_000018.10:g.54224281GCCCCG[1], NC_000018.10:g.54224281GCCCCG[2], NC_000018.10:g.54224281GCCCCG[4], NC_000018.9:g.51750651GCCCCG[1], NC_000018.9:g.51750651GCCCCG[2], NC_000018.9:g.51750651GCCCCG[4], NG_029550.1:g.5493GGGCCG[1], NG_029550.1:g.5493GGGCCG[2], NG_029550.1:g.5493GGGCCG[4], NM_015832.6:c.264GGGCCG[1], NM_015832.6:c.264GGGCCG[2], NM_015832.6:c.264GGGCCG[4], NM_015832.5:c.264GGGCCG[1], NM_015832.5:c.264GGGCCG[2], NM_015832.5:c.264GGGCCG[4], NM_015832.4:c.264GGGCCG[1], NM_015832.4:c.264GGGCCG[2], NM_015832.4:c.264GGGCCG[4], NM_003927.5:c.264GGGCCG[1], NM_003927.5:c.264GGGCCG[2], NM_003927.5:c.264GGGCCG[4], NM_003927.4:c.264GGGCCG[1], NM_003927.4:c.264GGGCCG[2], NM_003927.4:c.264GGGCCG[4], NP_056647.1:p.75GR[9], NP_056647.1:p.75GR[10], NP_056647.1:p.75GR[12], NP_003918.1:p.75GR[9], NP_003918.1:p.75GR[10], NP_003918.1:p.75GR[12]

Select item 14838821745.

rs1483882174 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCGCCGCC>-,GTCGCCGCCGTCGCCGCC [Show Flanks]
Chromosome:: 18:54224239 (GRCh38)
18:51750609 (GRCh37)
Canonical SPDI:: NC_000018.10:54224231:CGCCGCCGTCGCCGCC:CGCCGCC,NC_000018.10:54224231:CGCCGCCGTCGCCGCC:CGCCGCCGTCGCCGCCGTCGCCGCC
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: inframe_insertion,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCGCCGTCGCCGCCGTCGCCGCC=0./0 (ALFA)
HGVS:: NC_000018.10:g.54224239_54224247del, NC_000018.10:g.54224239_54224247dup, NC_000018.9:g.51750609_51750617del, NC_000018.9:g.51750609_51750617dup, NG_029550.1:g.5549_5557del, NG_029550.1:g.5549_5557dup, NM_015832.6:c.320_328del, NM_015832.6:c.320_328dup, NM_015832.5:c.320_328del, NM_015832.5:c.320_328dup, NM_015832.4:c.320_328del, NM_015832.4:c.320_328dup, NM_003927.5:c.320_328del, NM_003927.5:c.320_328dup, NM_003927.4:c.320_328del, NM_003927.4:c.320_328dup, NP_056647.1:p.Asp107_Gly109del, NP_056647.1:p.Asp107_Gly109dup, NP_003918.1:p.Asp107_Gly109del, NP_003918.1:p.Asp107_Gly109dup

Select item 14814103486.

rs1481410348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:54203053 (GRCh38)
18:51729423 (GRCh37)
Canonical SPDI:: NC_000018.10:54203052:A:G
Gene:: MBD2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54203053A>G, NC_000018.9:g.51729423A>G, NG_029550.1:g.26736T>C, NM_015832.6:c.752T>C, NM_015832.5:c.752T>C, NM_015832.4:c.752T>C, NP_056647.1:p.Leu251Pro

Select item 14791759647.

rs1479175964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54224483 (GRCh38)
18:51750853 (GRCh37)
Canonical SPDI:: NC_000018.10:54224482:G:A
Gene:: MBD2 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.54224483G>A, NC_000018.9:g.51750853G>A, NG_029550.1:g.5306C>T, NM_015832.6:c.77C>T, NM_015832.5:c.77C>T, NM_015832.4:c.77C>T, NM_003927.5:c.77C>T, NM_003927.4:c.77C>T, NP_056647.1:p.Ala26Val, NP_003918.1:p.Ala26Val

Select item 14784635328.

rs1478463532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:54224473 (GRCh38)
18:51750843 (GRCh37)
Canonical SPDI:: NC_000018.10:54224472:G:A,NC_000018.10:54224472:G:C
Gene:: MBD2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.54224473G>A, NC_000018.10:g.54224473G>C, NC_000018.9:g.51750843G>A, NC_000018.9:g.51750843G>C, NG_029550.1:g.5316C>T, NG_029550.1:g.5316C>G, NM_015832.6:c.87C>T, NM_015832.6:c.87C>G, NM_015832.5:c.87C>T, NM_015832.5:c.87C>G, NM_015832.4:c.87C>T, NM_015832.4:c.87C>G, NM_003927.5:c.87C>T, NM_003927.5:c.87C>G, NM_003927.4:c.87C>T, NM_003927.4:c.87C>G, NP_056647.1:p.Asp29Glu, NP_003918.1:p.Asp29Glu

Select item 14783507519.

rs1478350751 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:54224351 (GRCh38)
18:51750721 (GRCh37)
Canonical SPDI:: NC_000018.10:54224350:CCCC:CCC
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.54224354del, NC_000018.9:g.51750724del, NG_029550.1:g.5438del, NM_015832.6:c.209del, NM_015832.5:c.209del, NM_015832.4:c.209del, NM_003927.5:c.209del, NM_003927.4:c.209del, NP_056647.1:p.Gly70fs, NP_003918.1:p.Gly70fs

Select item 147791300410.

rs1477913004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:54224501 (GRCh38)
18:51750871 (GRCh37)
Canonical SPDI:: NC_000018.10:54224500:G:A,NC_000018.10:54224500:G:C
Gene:: MBD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.54224501G>A, NC_000018.10:g.54224501G>C, NC_000018.9:g.51750871G>A, NC_000018.9:g.51750871G>C, NG_029550.1:g.5288C>T, NG_029550.1:g.5288C>G, NM_015832.6:c.59C>T, NM_015832.6:c.59C>G, NM_015832.5:c.59C>T, NM_015832.5:c.59C>G, NM_015832.4:c.59C>T, NM_015832.4:c.59C>G, NM_003927.5:c.59C>T, NM_003927.5:c.59C>G, NM_003927.4:c.59C>T, NM_003927.4:c.59C>G, NP_056647.1:p.Ala20Val, NP_056647.1:p.Ala20Gly, NP_003918.1:p.Ala20Val, NP_003918.1:p.Ala20Gly

Select item 147661164211.

rs1476611642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC,CCC [Show Flanks]
Chromosome:: 18:54224224 (GRCh38)
18:51750595 (GRCh37)
Canonical SPDI:: NC_000018.10:54224224:CC:CCACC,NC_000018.10:54224224:CC:CCCCC
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.000142/2 (ALFA)
CCC=0.000091/12 (GnomAD)
CCC=0.000156/1 (1000Genomes)
HGVS:: NC_000018.10:g.54224226_54224227insACC, NC_000018.10:g.54224226_54224227insCCC, NC_000018.9:g.51750596_51750597insACC, NC_000018.9:g.51750596_51750597insCCC, NG_029550.1:g.5564_5565insTGG, NG_029550.1:g.5564_5565insGGG, NM_015832.6:c.335_336insTGG, NM_015832.6:c.335_336insGGG, NM_015832.5:c.335_336insTGG, NM_015832.5:c.335_336insGGG, NM_015832.4:c.335_336insTGG, NM_015832.4:c.335_336insGGG, NM_003927.5:c.335_336insTGG, NM_003927.5:c.335_336insGGG, NM_003927.4:c.335_336insTGG, NM_003927.4:c.335_336insGGG, NP_056647.1:p.Gly115dup, NP_056647.1:p.Gly115dup, NP_003918.1:p.Gly115dup, NP_003918.1:p.Gly115dup

Select item 147383266512.

rs1473832665 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 18:54224324 (GRCh38)
18:51750694 (GRCh37)
Canonical SPDI:: NC_000018.10:54224323:CCCC:CCC
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.54224327del, NC_000018.9:g.51750697del, NG_029550.1:g.5465del, NM_015832.6:c.236del, NM_015832.5:c.236del, NM_015832.4:c.236del, NM_003927.5:c.236del, NM_003927.4:c.236del, NP_056647.1:p.Gly79fs, NP_003918.1:p.Gly79fs

Select item 147079437713.

rs1470794377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:54203010 (GRCh38)
18:51729380 (GRCh37)
Canonical SPDI:: NC_000018.10:54203009:G:A,NC_000018.10:54203009:G:T
Gene:: MBD2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54203010G>A, NC_000018.10:g.54203010G>T, NC_000018.9:g.51729380G>A, NC_000018.9:g.51729380G>T, NG_029550.1:g.26779C>T, NG_029550.1:g.26779C>A, NM_015832.6:c.795C>T, NM_015832.6:c.795C>A, NM_015832.5:c.795C>T, NM_015832.5:c.795C>A, NM_015832.4:c.795C>T, NM_015832.4:c.795C>A, NP_056647.1:p.Tyr265Ter

Select item 146648366314.

rs1466483663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:54224179 (GRCh38)
18:51750549 (GRCh37)
Canonical SPDI:: NC_000018.10:54224178:G:A,NC_000018.10:54224178:G:C
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.54224179G>A, NC_000018.10:g.54224179G>C, NC_000018.9:g.51750549G>A, NC_000018.9:g.51750549G>C, NG_029550.1:g.5610C>T, NG_029550.1:g.5610C>G, NM_015832.6:c.381C>T, NM_015832.6:c.381C>G, NM_015832.5:c.381C>T, NM_015832.5:c.381C>G, NM_015832.4:c.381C>T, NM_015832.4:c.381C>G, NM_003927.5:c.381C>T, NM_003927.5:c.381C>G, NM_003927.4:c.381C>T, NM_003927.4:c.381C>G

Select item 146018658615.

rs1460186586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:54224290 (GRCh38)
18:51750660 (GRCh37)
Canonical SPDI:: NC_000018.10:54224289:C:A
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009557/177 (ALFA)
A=0.002655/17 (1000Genomes)
A=0.006464/1711 (TOPMED)
A=0.007152/955 (GnomAD)
A=0.007246/1 (GnomAD_exomes)
A=0.013378/8 (NorthernSweden)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000018.10:g.54224290C>A, NC_000018.9:g.51750660C>A, NG_029550.1:g.5499G>T, NM_015832.6:c.270G>T, NM_015832.5:c.270G>T, NM_015832.4:c.270G>T, NM_003927.5:c.270G>T, NM_003927.4:c.270G>T

Select item 145821644016.

rs1458216440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:54224416 (GRCh38)
18:51750786 (GRCh37)
Canonical SPDI:: NC_000018.10:54224415:G:C
Gene:: MBD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000018.10:g.54224416G>C, NC_000018.9:g.51750786G>C, NG_029550.1:g.5373C>G, NM_015832.6:c.144C>G, NM_015832.5:c.144C>G, NM_015832.4:c.144C>G, NM_003927.5:c.144C>G, NM_003927.4:c.144C>G

Select item 145806351017.

rs1458063510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54224159 (GRCh38)
18:51750529 (GRCh37)
Canonical SPDI:: NC_000018.10:54224158:G:A
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.54224159G>A, NC_000018.9:g.51750529G>A, NG_029550.1:g.5630C>T, NM_015832.6:c.401C>T, NM_015832.5:c.401C>T, NM_015832.4:c.401C>T, NM_003927.5:c.401C>T, NM_003927.4:c.401C>T, NP_056647.1:p.Ala134Val, NP_003918.1:p.Ala134Val

Select item 145357060218.

rs1453570602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:54224409 (GRCh38)
18:51750779 (GRCh37)
Canonical SPDI:: NC_000018.10:54224408:T:C
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.54224409T>C, NC_000018.9:g.51750779T>C, NG_029550.1:g.5380A>G, NM_015832.6:c.151A>G, NM_015832.5:c.151A>G, NM_015832.4:c.151A>G, NM_003927.5:c.151A>G, NM_003927.4:c.151A>G, NP_056647.1:p.Arg51Gly, NP_003918.1:p.Arg51Gly

Select item 145105348219.

rs1451053482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:54224215 (GRCh38)
18:51750585 (GRCh37)
Canonical SPDI:: NC_000018.10:54224214:G:A
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000018.10:g.54224215G>A, NC_000018.9:g.51750585G>A, NG_029550.1:g.5574C>T, NM_015832.6:c.345C>T, NM_015832.5:c.345C>T, NM_015832.4:c.345C>T, NM_003927.5:c.345C>T, NM_003927.4:c.345C>T

Select item 144929090520.

rs1449290905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:54224299 (GRCh38)
18:51750669 (GRCh37)
Canonical SPDI:: NC_000018.10:54224298:T:G
Gene:: MBD2 (Varview), SNORA37 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000126/16 (GnomAD)
G=0.000142/2 (TOMMO)
G=0.000468/3 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000018.10:g.54224299T>G, NC_000018.9:g.51750669T>G, NG_029550.1:g.5490A>C, NM_015832.6:c.261A>C, NM_015832.5:c.261A>C, NM_015832.4:c.261A>C, NM_003927.5:c.261A>C, NM_003927.4:c.261A>C

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