SNP Links for Gene (Select 55796) - SNP

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Select item 14915855061.

rs1491585506 has merged into rs3044539 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: X:132484940 (GRCh38)
X:131618968 (GRCh37)
Canonical SPDI:: NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000023.11:132484933:CACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA
Gene:: MBNL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000023.11:g.132484934CA[3], NC_000023.11:g.132484934CA[7], NC_000023.11:g.132484934CA[8], NC_000023.11:g.132484934CA[9], NC_000023.11:g.132484934CA[10], NC_000023.11:g.132484934CA[11], NC_000023.11:g.132484934CA[12], NC_000023.11:g.132484934CA[14], NC_000023.11:g.132484934CA[15], NC_000023.11:g.132484934CA[16], NC_000023.11:g.132484934CA[17], NC_000023.10:g.131618962CA[3], NC_000023.10:g.131618962CA[7], NC_000023.10:g.131618962CA[8], NC_000023.10:g.131618962CA[9], NC_000023.10:g.131618962CA[10], NC_000023.10:g.131618962CA[11], NC_000023.10:g.131618962CA[12], NC_000023.10:g.131618962CA[14], NC_000023.10:g.131618962CA[15], NC_000023.10:g.131618962CA[16], NC_000023.10:g.131618962CA[17], NG_016324.2:g.10010TG[3], NG_016324.2:g.10010TG[7], NG_016324.2:g.10010TG[8], NG_016324.2:g.10010TG[9], NG_016324.2:g.10010TG[10], NG_016324.2:g.10010TG[11], NG_016324.2:g.10010TG[12], NG_016324.2:g.10010TG[14], NG_016324.2:g.10010TG[15], NG_016324.2:g.10010TG[16], NG_016324.2:g.10010TG[17]

Select item 14915780662.

rs1491578066 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:132396773 (GRCh38)
X:131530801 (GRCh37)
Canonical SPDI:: NC_000023.11:132396771:ACA:A
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.132396773_132396774del, NC_000023.10:g.131530801_131530802del, NG_016324.2:g.98196_98197del

Select item 14915756013.

rs1491575601 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATT,TT [Show Flanks]
Chromosome:: X:132396906 (GRCh38)
X:131530935 (GRCh37)
Canonical SPDI:: NC_000023.11:132396906::TATT,NC_000023.11:132396906::TT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396906_132396907insTATT, NC_000023.11:g.132396906_132396907insTT, NC_000023.10:g.131530934_131530935insTATT, NC_000023.10:g.131530934_131530935insTT, NG_016324.2:g.98062_98063insAATA, NG_016324.2:g.98062_98063insAA

Select item 14915448474.

rs1491544847 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: X:132396653 (GRCh38)
X:131530681 (GRCh37)
Canonical SPDI:: NC_000023.11:132396650:CACA:CA
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396651CA[1], NC_000023.10:g.131530679CA[1], NG_016324.2:g.98315TG[1]

Select item 14915409505.

rs1491540950 has merged into rs1366681253 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: X:132396508 (GRCh38)
X:131530536 (GRCh37)
Canonical SPDI:: NC_000023.11:132396500:TATATATAT:TATATAT,NC_000023.11:132396500:TATATATAT:TATATATATAT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396502AT[3], NC_000023.11:g.132396502AT[5], NC_000023.10:g.131530530AT[3], NC_000023.10:g.131530530AT[5], NG_016324.2:g.98461TA[3], NG_016324.2:g.98461TA[5]

Select item 14915370436.

rs1491537043 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: X:132449977 (GRCh38)
X:131584005 (GRCh37)
Canonical SPDI:: NC_000023.11:132449976:GC:
Gene:: MBNL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00011/4 (GnomAD)
HGVS:: NC_000023.11:g.132449977_132449978del, NC_000023.10:g.131584005_131584006del, NG_016324.2:g.44991_44992del

Select item 14915321107.

rs1491532110 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:132396592 (GRCh38)
X:131530620 (GRCh37)
Canonical SPDI:: NC_000023.11:132396591:CT:
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00048/23 (GnomAD)
-=0.00063/8 (TOMMO)
HGVS:: NC_000023.11:g.132396592_132396593del, NC_000023.10:g.131530620_131530621del, NG_016324.2:g.98376_98377del

Select item 14915318288.

rs1491531828 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:132396452 (GRCh38)
X:131530480 (GRCh37)
Canonical SPDI:: NC_000023.11:132396451:CT:
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000023.11:g.132396452_132396453del, NC_000023.10:g.131530480_131530481del, NG_016324.2:g.98516_98517del

Select item 14915277509.

rs1491527750 has merged into rs1415191937 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: X:132396600 (GRCh38)
X:131530628 (GRCh37)
Canonical SPDI:: NC_000023.11:132396592:TATATATAT:TATATAT,NC_000023.11:132396592:TATATATAT:TATATATATAT,NC_000023.11:132396592:TATATATAT:TATATATATATAT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396594AT[3], NC_000023.11:g.132396594AT[5], NC_000023.11:g.132396594AT[6], NC_000023.10:g.131530622AT[3], NC_000023.10:g.131530622AT[5], NC_000023.10:g.131530622AT[6], NG_016324.2:g.98369TA[3], NG_016324.2:g.98369TA[5], NG_016324.2:g.98369TA[6]

Select item 149152529310.

rs1491525293 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: X:132396651 (GRCh38)
X:131530680 (GRCh37)
Canonical SPDI:: NC_000023.11:132396651:A:ATA
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396652_132396653insTA, NC_000023.10:g.131530680_131530681insTA, NG_016324.2:g.98317_98318insAT

Select item 149152298211.

rs1491522982 has merged into rs1324106415 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: X:132396712 (GRCh38)
X:131530740 (GRCh37)
Canonical SPDI:: NC_000023.11:132396703:ATATATATAT:ATATATAT,NC_000023.11:132396703:ATATATATAT:ATATATATATAT,NC_000023.11:132396703:ATATATATAT:ATATATATATATAT,NC_000023.11:132396703:ATATATATAT:ATATATATATATATAT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396704AT[4], NC_000023.11:g.132396704AT[6], NC_000023.11:g.132396704AT[7], NC_000023.11:g.132396704AT[8], NC_000023.10:g.131530732AT[4], NC_000023.10:g.131530732AT[6], NC_000023.10:g.131530732AT[7], NC_000023.10:g.131530732AT[8], NG_016324.2:g.98256AT[4], NG_016324.2:g.98256AT[6], NG_016324.2:g.98256AT[7], NG_016324.2:g.98256AT[8]

Select item 149152191512.

rs1491521915 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:132396500 (GRCh38)
X:131530528 (GRCh37)
Canonical SPDI:: NC_000023.11:132396499:CT:
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00759/90 (ALFA)
-=0.00463/274 (GnomAD)
HGVS:: NC_000023.11:g.132396500_132396501del, NC_000023.10:g.131530528_131530529del, NG_016324.2:g.98468_98469del

Select item 149150296513.

rs1491502965 has merged into rs1391878436 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: X:132396400 (GRCh38)
X:131530428 (GRCh37)
Canonical SPDI:: NC_000023.11:132396394:TATATATAT:TATAT,NC_000023.11:132396394:TATATATAT:TATATAT,NC_000023.11:132396394:TATATATAT:TATATATATAT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396396AT[2], NC_000023.11:g.132396396AT[3], NC_000023.11:g.132396396AT[5], NC_000023.10:g.131530424AT[2], NC_000023.10:g.131530424AT[3], NC_000023.10:g.131530424AT[5], NG_016324.2:g.98567TA[2], NG_016324.2:g.98567TA[3], NG_016324.2:g.98567TA[5]

Select item 149145913714.

rs1491459137 has merged into rs59387058 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCCCCCCC>-,C,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: X:132449982 (GRCh38)
X:131584010 (GRCh37)
Canonical SPDI:: NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000023.11:132449977:CCCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: MBNL3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
CCCCCCCCCCC=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.132449982_132449993del, NC_000023.11:g.132449983_132449993del, NC_000023.11:g.132449987_132449993del, NC_000023.11:g.132449989_132449993del, NC_000023.11:g.132449990_132449993del, NC_000023.11:g.132449991_132449993del, NC_000023.11:g.132449992_132449993del, NC_000023.11:g.132449993del, NC_000023.11:g.132449993dup, NC_000023.11:g.132449992_132449993dup, NC_000023.11:g.132449991_132449993dup, NC_000023.11:g.132449990_132449993dup, NC_000023.11:g.132449988_132449993dup, NC_000023.11:g.132449987_132449993dup, NC_000023.11:g.132449986_132449993dup, NC_000023.11:g.132449982_132449993dup, NC_000023.11:g.132449981_132449993dup, NC_000023.11:g.132449980_132449993dup, NC_000023.11:g.132449979_132449993dup, NC_000023.10:g.131584010_131584021del, NC_000023.10:g.131584011_131584021del, NC_000023.10:g.131584015_131584021del, NC_000023.10:g.131584017_131584021del, NC_000023.10:g.131584018_131584021del, NC_000023.10:g.131584019_131584021del, NC_000023.10:g.131584020_131584021del, NC_000023.10:g.131584021del, NC_000023.10:g.131584021dup, NC_000023.10:g.131584020_131584021dup, NC_000023.10:g.131584019_131584021dup, NC_000023.10:g.131584018_131584021dup, NC_000023.10:g.131584016_131584021dup, NC_000023.10:g.131584015_131584021dup, NC_000023.10:g.131584014_131584021dup, NC_000023.10:g.131584010_131584021dup, NC_000023.10:g.131584009_131584021dup, NC_000023.10:g.131584008_131584021dup, NC_000023.10:g.131584007_131584021dup, NG_016324.2:g.44980_44991del, NG_016324.2:g.44981_44991del, NG_016324.2:g.44985_44991del, NG_016324.2:g.44987_44991del, NG_016324.2:g.44988_44991del, NG_016324.2:g.44989_44991del, NG_016324.2:g.44990_44991del, NG_016324.2:g.44991del, NG_016324.2:g.44991dup, NG_016324.2:g.44990_44991dup, NG_016324.2:g.44989_44991dup, NG_016324.2:g.44988_44991dup, NG_016324.2:g.44986_44991dup, NG_016324.2:g.44985_44991dup, NG_016324.2:g.44984_44991dup, NG_016324.2:g.44980_44991dup, NG_016324.2:g.44979_44991dup, NG_016324.2:g.44978_44991dup, NG_016324.2:g.44977_44991dup

Select item 149137214615.

rs1491372146 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: X:132396885 (GRCh38)
X:131530913 (GRCh37)
Canonical SPDI:: NC_000023.11:132396884:TT:
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00045/6 (TOMMO)
-=0.00091/59 (GnomAD)
HGVS:: NC_000023.11:g.132396885_132396886del, NC_000023.10:g.131530913_131530914del, NG_016324.2:g.98083_98084del

Select item 149134800216.

rs1491348002 has merged into rs1231418193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: X:132396460 (GRCh38)
X:131530488 (GRCh37)
Canonical SPDI:: NC_000023.11:132396452:TATATATATAT:TATATAT,NC_000023.11:132396452:TATATATATAT:TATATATAT,NC_000023.11:132396452:TATATATATAT:TATATATATATAT,NC_000023.11:132396452:TATATATATAT:TATATATATATATAT,NC_000023.11:132396452:TATATATATAT:TATATATATATATATAT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TATA=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.132396454AT[3], NC_000023.11:g.132396454AT[4], NC_000023.11:g.132396454AT[6], NC_000023.11:g.132396454AT[7], NC_000023.11:g.132396454AT[8], NC_000023.10:g.131530482AT[3], NC_000023.10:g.131530482AT[4], NC_000023.10:g.131530482AT[6], NC_000023.10:g.131530482AT[7], NC_000023.10:g.131530482AT[8], NG_016324.2:g.98507TA[3], NG_016324.2:g.98507TA[4], NG_016324.2:g.98507TA[6], NG_016324.2:g.98507TA[7], NG_016324.2:g.98507TA[8]

Select item 149132614617.

rs1491326146 has merged into rs1341718513 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATTCCTATATATATAT [Show Flanks]
Chromosome:: X:132396496 (GRCh38)
X:131530524 (GRCh37)
Canonical SPDI:: NC_000023.11:132396488:TATATATAT:TATATAT,NC_000023.11:132396488:TATATATAT:TATATATATAT,NC_000023.11:132396488:TATATATAT:TATATATATATTCCTATATATATAT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATAT=0./0 (ALFA)
TA=0.00078/17 (TOMMO)
HGVS:: NC_000023.11:g.132396490AT[3], NC_000023.11:g.132396490AT[5], NC_000023.11:g.132396489_132396497TA[5]TTCCTATATATATAT[1], NC_000023.10:g.131530518AT[3], NC_000023.10:g.131530518AT[5], NC_000023.10:g.131530517_131530525TA[5]TTCCTATATATATAT[1], NG_016324.2:g.98473TA[3], NG_016324.2:g.98473TA[5], NG_016324.2:g.98472_98480AT[5]AGGAATATATATATA[1]

Select item 149132191718.

rs1491321917 has merged into rs370759001 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: X:132396665 (GRCh38)
X:131530693 (GRCh37)
Canonical SPDI:: NC_000023.11:132396662:CACA:CA,NC_000023.11:132396662:CACA:CACACA
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
HGVS:: NC_000023.11:g.132396663CA[1], NC_000023.11:g.132396663CA[3], NC_000023.10:g.131530691CA[1], NC_000023.10:g.131530691CA[3], NG_016324.2:g.98303TG[1], NG_016324.2:g.98303TG[3]

Select item 149130653519.

rs1491306535 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCATATATATATTCCTATATATATTCCTATATATTCCTATATAT,TCATATATATATTCCTATATATTCCTATATAT,TCCTATATAT,TCCTATATATTCCTATATAT,TCCTATATATTCCTATATATATTCCTATATATTCCTATATAT [Show Flanks]
Chromosome:: X:132396534 (GRCh38)
X:131530563 (GRCh37)
Canonical SPDI:: NC_000023.11:132396534:TATATAT:TATATATTCATATATATATTCCTATATATATTCCTATATATTCCTATATAT,NC_000023.11:132396534:TATATAT:TATATATTCATATATATATTCCTATATATTCCTATATAT,NC_000023.11:132396534:TATATAT:TATATATTCCTATATAT,NC_000023.11:132396534:TATATAT:TATATATTCCTATATATTCCTATATAT,NC_000023.11:132396534:TATATAT:TATATATTCCTATATATTCCTATATATATTCCTATATATTCCTATATAT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATTCCTATATAT=0.00126/15 (ALFA)
HGVS:: NC_000023.11:g.132396535_132396541TA[3]TTCATATATATATTCCTATATATATTCCTATATATTCCTATATAT[1], NC_000023.11:g.132396535_132396541TA[3]TTCATATATATATTCCTATATATTCCTATATAT[1], NC_000023.11:g.132396535_132396541TA[3]TTCCTATATAT[1], NC_000023.11:g.132396541_132396542insTCCTATATATTCCTATATAT, NC_000023.11:g.132396535_132396541TATATATTCCTATATATTCCTA[2]TA[2]T[1], NC_000023.10:g.131530563_131530569TA[3]TTCATATATATATTCCTATATATATTCCTATATATTCCTATATAT[1], NC_000023.10:g.131530563_131530569TA[3]TTCATATATATATTCCTATATATTCCTATATAT[1], NC_000023.10:g.131530563_131530569TA[3]TTCCTATATAT[1], NC_000023.10:g.131530569_131530570insTCCTATATATTCCTATATAT, NC_000023.10:g.131530563_131530569TATATATTCCTATATATTCCTA[2]TA[2]T[1], NG_016324.2:g.98428_98434ATATATAGGA[2]AT[4]AGGAATATATATATGAATATATA[1], NG_016324.2:g.98428_98434ATATATAGGA[2]AT[5]GAATATATA[1], NG_016324.2:g.98428_98434AT[3]AGGAATATATA[1], NG_016324.2:g.98434_98435insGGAATATATAGGAATATATA, NG_016324.2:g.98428_98434ATATATAGGAATATATAGGAAT[2]AT[2]A[1]

Select item 149130113520.

rs1491301135 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: X:132396071 (GRCh38)
X:131530100 (GRCh37)
Canonical SPDI:: NC_000023.11:132396071:TCTT:TCTTCTT
Gene:: MBNL3 (Varview), RAP2C-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTCTT=0./0 (ALFA)
TCT=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.132396073_132396075dup, NC_000023.10:g.131530101_131530103dup, NG_016324.2:g.98895_98897dup

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