SNP Links for Gene (Select 54798) - SNP

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Select item 14915742211.

rs1491574221 has merged into rs59327032 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 4:154463188 (GRCh38)
4:155384340 (GRCh37)
Canonical SPDI:: NC_000004.12:154463174:ACACACACACACACACA:ACACACACACACA,NC_000004.12:154463174:ACACACACACACACACA:ACACACACACACACA,NC_000004.12:154463174:ACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:154463174:ACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:154463174:ACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:154463174:ACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.0111/2 (Vietnamese)
-=0.179/690 (ALSPAC)
-=0.1796/666 (TWINSUK)
-=0.368/1843 (1000Genomes)
HGVS:: NC_000004.12:g.154463176CA[6], NC_000004.12:g.154463176CA[7], NC_000004.12:g.154463176CA[9], NC_000004.12:g.154463176CA[10], NC_000004.12:g.154463176CA[11], NC_000004.12:g.154463176CA[12], NC_000004.11:g.155384328CA[6], NC_000004.11:g.155384328CA[7], NC_000004.11:g.155384328CA[9], NC_000004.11:g.155384328CA[10], NC_000004.11:g.155384328CA[11], NC_000004.11:g.155384328CA[12], NG_054879.1:g.33589GT[6], NG_054879.1:g.33589GT[7], NG_054879.1:g.33589GT[9], NG_054879.1:g.33589GT[10], NG_054879.1:g.33589GT[11], NG_054879.1:g.33589GT[12], NW_017363814.1:g.390805CA[6], NW_017363814.1:g.390805CA[7], NW_017363814.1:g.390805CA[9], NW_017363814.1:g.390805CA[10], NW_017363814.1:g.390805CA[11], NW_017363814.1:g.390805CA[12]

Select item 14915414502.

rs1491541450 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:154374001 (GRCh38)
4:155295153 (GRCh37)
Canonical SPDI:: NC_000004.12:154374000:GC:
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00006/1 (ALFA)
-=0.00032/3 (ExAC)
HGVS:: NC_000004.12:g.154374001_154374002del, NC_000004.11:g.155295153_155295154del, NG_054879.1:g.122777_122778del, NG_025263.1:g.313_314del, NW_017363814.1:g.301630_301631del

Select item 14915291053.

rs1491529105 has merged into rs1187277273 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 4:154414208 (GRCh38)
4:155335360 (GRCh37)
Canonical SPDI:: NC_000004.12:154414196:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000004.12:154414196:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000004.12:154414196:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000004.12:154414196:AGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
Gene:: DCHS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
AGAG=0.00167/1 (NorthernSweden)
AG=0.00752/126 (TOMMO)
AG=0.0148/27 (Korea1K)
HGVS:: NC_000004.12:g.154414198GA[5], NC_000004.12:g.154414198GA[7], NC_000004.12:g.154414198GA[8], NC_000004.12:g.154414198GA[9], NC_000004.11:g.155335350GA[5], NC_000004.11:g.155335350GA[7], NC_000004.11:g.155335350GA[8], NC_000004.11:g.155335350GA[9], NG_054879.1:g.82571CT[5], NG_054879.1:g.82571CT[7], NG_054879.1:g.82571CT[8], NG_054879.1:g.82571CT[9], NW_017363814.1:g.341827GA[5], NW_017363814.1:g.341827GA[7], NW_017363814.1:g.341827GA[8], NW_017363814.1:g.341827GA[9]

Select item 14915130394.

rs1491513039 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:154266334 (GRCh38)
4:155187487 (GRCh37)
Canonical SPDI:: NC_000004.12:154266334:TT:TTT
Gene:: DCHS2 (Varview), LOC101927947 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000071/2 (TOMMO)
T=0.000171/21 (GnomAD)
HGVS:: NC_000004.12:g.154266336dup, NC_000004.11:g.155187488dup, NG_054879.1:g.230444dup, NW_017363814.1:g.193965dup

Select item 14914924295.

rs1491492429 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:154374002 (GRCh38)
4:155295154 (GRCh37)
Canonical SPDI:: NC_000004.12:154374001:CA:
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00792/94 (ALFA)
-=0.00078/22 (TOMMO)
-=0.00099/6 (ExAC)
HGVS:: NC_000004.12:g.154374002_154374003del, NC_000004.11:g.155295154_155295155del, NG_054879.1:g.122776_122777del, NG_025263.1:g.314_315del, NW_017363814.1:g.301631_301632del

Select item 14914805296.

rs1491480529 has merged into rs60259256 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 4:154459756 (GRCh38)
4:155380908 (GRCh37)
Canonical SPDI:: NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000004.12:154459734:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
TCTCTCTCTCTC=0.1024/513 (1000Genomes)
TCTC=0.5/20 (GENOME_DK)
HGVS:: NC_000004.12:g.154459736CT[10], NC_000004.12:g.154459736CT[11], NC_000004.12:g.154459736CT[12], NC_000004.12:g.154459736CT[13], NC_000004.12:g.154459736CT[14], NC_000004.12:g.154459736CT[15], NC_000004.12:g.154459736CT[16], NC_000004.12:g.154459736CT[17], NC_000004.12:g.154459736CT[18], NC_000004.12:g.154459736CT[19], NC_000004.12:g.154459736CT[20], NC_000004.12:g.154459736CT[21], NC_000004.12:g.154459736CT[22], NC_000004.12:g.154459736CT[23], NC_000004.12:g.154459736CT[25], NC_000004.12:g.154459736CT[26], NC_000004.12:g.154459736CT[27], NC_000004.12:g.154459736CT[28], NC_000004.12:g.154459736CT[29], NC_000004.12:g.154459736CT[30], NC_000004.12:g.154459736CT[31], NC_000004.12:g.154459736CT[32], NC_000004.11:g.155380888CT[10], NC_000004.11:g.155380888CT[11], NC_000004.11:g.155380888CT[12], NC_000004.11:g.155380888CT[13], NC_000004.11:g.155380888CT[14], NC_000004.11:g.155380888CT[15], NC_000004.11:g.155380888CT[16], NC_000004.11:g.155380888CT[17], NC_000004.11:g.155380888CT[18], NC_000004.11:g.155380888CT[19], NC_000004.11:g.155380888CT[20], NC_000004.11:g.155380888CT[21], NC_000004.11:g.155380888CT[22], NC_000004.11:g.155380888CT[23], NC_000004.11:g.155380888CT[25], NC_000004.11:g.155380888CT[26], NC_000004.11:g.155380888CT[27], NC_000004.11:g.155380888CT[28], NC_000004.11:g.155380888CT[29], NC_000004.11:g.155380888CT[30], NC_000004.11:g.155380888CT[31], NC_000004.11:g.155380888CT[32], NG_054879.1:g.36997GA[10], NG_054879.1:g.36997GA[11], NG_054879.1:g.36997GA[12], NG_054879.1:g.36997GA[13], NG_054879.1:g.36997GA[14], NG_054879.1:g.36997GA[15], NG_054879.1:g.36997GA[16], NG_054879.1:g.36997GA[17], NG_054879.1:g.36997GA[18], NG_054879.1:g.36997GA[19], NG_054879.1:g.36997GA[20], NG_054879.1:g.36997GA[21], NG_054879.1:g.36997GA[22], NG_054879.1:g.36997GA[23], NG_054879.1:g.36997GA[25], NG_054879.1:g.36997GA[26], NG_054879.1:g.36997GA[27], NG_054879.1:g.36997GA[28], NG_054879.1:g.36997GA[29], NG_054879.1:g.36997GA[30], NG_054879.1:g.36997GA[31], NG_054879.1:g.36997GA[32], NW_017363814.1:g.387365CT[10], NW_017363814.1:g.387365CT[11], NW_017363814.1:g.387365CT[12], NW_017363814.1:g.387365CT[13], NW_017363814.1:g.387365CT[14], NW_017363814.1:g.387365CT[15], NW_017363814.1:g.387365CT[16], NW_017363814.1:g.387365CT[17], NW_017363814.1:g.387365CT[18], NW_017363814.1:g.387365CT[19], NW_017363814.1:g.387365CT[20], NW_017363814.1:g.387365CT[21], NW_017363814.1:g.387365CT[22], NW_017363814.1:g.387365CT[23], NW_017363814.1:g.387365CT[25], NW_017363814.1:g.387365CT[26], NW_017363814.1:g.387365CT[27], NW_017363814.1:g.387365CT[28], NW_017363814.1:g.387365CT[29], NW_017363814.1:g.387365CT[30], NW_017363814.1:g.387365CT[31], NW_017363814.1:g.387365CT[32]

Select item 14914617737.

rs1491461773 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:154379171 (GRCh38)
4:155300323 (GRCh37)
Canonical SPDI:: NC_000004.12:154379170:GA:
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.154379171_154379172del, NC_000004.11:g.155300323_155300324del, NG_054879.1:g.117607_117608del, NW_017363814.1:g.306800_306801del

Select item 14914533268.

rs1491453326 has merged into rs1333347594 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 4:154302858 (GRCh38)
4:155224010 (GRCh37)
Canonical SPDI:: NC_000004.12:154302852:ATATATATA:ATATA,NC_000004.12:154302852:ATATATATA:ATATATA,NC_000004.12:154302852:ATATATATA:ATATATATATA
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
AT=0.00071/12 (TOMMO)
HGVS:: NC_000004.12:g.154302854TA[2], NC_000004.12:g.154302854TA[3], NC_000004.12:g.154302854TA[5], NC_000004.11:g.155224006TA[2], NC_000004.11:g.155224006TA[3], NC_000004.11:g.155224006TA[5], NG_054879.1:g.193919AT[2], NG_054879.1:g.193919AT[3], NG_054879.1:g.193919AT[5], NW_017363814.1:g.230483TA[2], NW_017363814.1:g.230483TA[3], NW_017363814.1:g.230483TA[5]

Select item 14914421289.

rs1491442128 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATATACATATATATATATATATATA [Show Flanks]
Chromosome:: 4:154389517 (GRCh38)
4:155310670 (GRCh37)
Canonical SPDI:: NC_000004.12:154389517:ATATATATATATATATATA:ATATATATATATATATATATATATACATATATATATATATATATA
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATATATATATATATATACATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000004.12:g.154389518_154389536AT[12]ACATATATATATATATATATA[1], NC_000004.11:g.155310670_155310688AT[12]ACATATATATATATATATATA[1], NG_054879.1:g.107243_107261TA[9]TGTATATATATATATATATATATATAT[1], NW_017363814.1:g.317147_317165AT[12]ACATATATATATATATATATA[1]

Select item 149142946010.

rs1491429460 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 4:154240306 (GRCh38)
4:155161459 (GRCh37)
Canonical SPDI:: NC_000004.12:154240306::A,NC_000004.12:154240306::G
Gene:: DCHS2 (Varview), LOC101927947 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0005/8 (ALFA)
HGVS:: NC_000004.12:g.154240306_154240307insA, NC_000004.12:g.154240306_154240307insG, NC_000004.11:g.155161458_155161459insA, NC_000004.11:g.155161458_155161459insG, NG_054879.1:g.256472_256473insT, NG_054879.1:g.256472_256473insC, NW_017363814.1:g.167935_167936insA, NW_017363814.1:g.167935_167936insG

Select item 149141989811.

rs1491419898 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:154303504 (GRCh38)
4:155224656 (GRCh37)
Canonical SPDI:: NC_000004.12:154303503:AG:
Gene:: DCHS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.154303504_154303505del, NC_000004.11:g.155224656_155224657del, NG_054879.1:g.193274_193275del, NW_017363814.1:g.231133_231134del

Select item 149140825212.

rs1491408252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 4:154463690 (GRCh38)
4:155384843 (GRCh37)
Canonical SPDI:: NC_000004.12:154463690:T:TCT
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.154463691_154463692insCT, NC_000004.11:g.155384843_155384844insCT, NG_054879.1:g.33088_33089insGA, NW_017363814.1:g.391320_391321insCT

Select item 149140307613.

rs1491403076 has merged into rs11335225 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAGAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:154445822 (GRCh38)
4:155366974 (GRCh37)
Canonical SPDI:: NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154445808:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAA
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4884/2446 (1000Genomes)
HGVS:: NC_000004.12:g.154445822_154445825del, NC_000004.12:g.154445823_154445825del, NC_000004.12:g.154445824_154445825del, NC_000004.12:g.154445825del, NC_000004.12:g.154445825dup, NC_000004.12:g.154445824_154445825dup, NC_000004.12:g.154445823_154445825dup, NC_000004.12:g.154445821_154445825dup, NC_000004.12:g.154445820_154445825dup, NC_000004.12:g.154445819_154445825dup, NC_000004.12:g.154445825_154445826insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.154445809_154445825A[17]GAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.155366974_155366977del, NC_000004.11:g.155366975_155366977del, NC_000004.11:g.155366976_155366977del, NC_000004.11:g.155366977del, NC_000004.11:g.155366977dup, NC_000004.11:g.155366976_155366977dup, NC_000004.11:g.155366975_155366977dup, NC_000004.11:g.155366973_155366977dup, NC_000004.11:g.155366972_155366977dup, NC_000004.11:g.155366971_155366977dup, NC_000004.11:g.155366977_155366978insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.155366961_155366977A[17]GAAAAAAAAAAAAAAAAAA[1], NG_054879.1:g.50967_50970del, NG_054879.1:g.50968_50970del, NG_054879.1:g.50969_50970del, NG_054879.1:g.50970del, NG_054879.1:g.50970dup, NG_054879.1:g.50969_50970dup, NG_054879.1:g.50968_50970dup, NG_054879.1:g.50966_50970dup, NG_054879.1:g.50965_50970dup, NG_054879.1:g.50964_50970dup, NG_054879.1:g.50970_50971insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054879.1:g.50954_50970T[18]CTTTTTTTTTTTTTTTTT[1], NW_017363814.1:g.373451_373454del, NW_017363814.1:g.373452_373454del, NW_017363814.1:g.373453_373454del, NW_017363814.1:g.373454del, NW_017363814.1:g.373454dup, NW_017363814.1:g.373453_373454dup, NW_017363814.1:g.373452_373454dup, NW_017363814.1:g.373450_373454dup, NW_017363814.1:g.373449_373454dup, NW_017363814.1:g.373448_373454dup, NW_017363814.1:g.373454_373455insAAAAAAAAAAAAAAAAAAAAAAAAA, NW_017363814.1:g.373438_373454A[17]GAAAAAAAAAAAAAAAAAA[1]

Select item 149139127714.

rs1491391277 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:154319656 (GRCh38)
4:155240809 (GRCh37)
Canonical SPDI:: NC_000004.12:154319656::G
Gene:: DCHS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.154319656_154319657insG, NC_000004.11:g.155240808_155240809insG, NG_054879.1:g.177122_177123insC, NW_017363814.1:g.247285_247286insG

Select item 149133462515.

rs1491334625 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 4:154463693 (GRCh38)
4:155384846 (GRCh37)
Canonical SPDI:: NC_000004.12:154463693:C:CGC
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGC=0./0 (ALFA)
CG=0.00238/8 (GnomAD)
HGVS:: NC_000004.12:g.154463694_154463695insGC, NC_000004.11:g.155384846_155384847insGC, NG_054879.1:g.33085_33086insCG, NW_017363814.1:g.391323_391324insGC

Select item 149130708516.

rs1491307085 has merged into rs1213584032 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 4:154341623 (GRCh38)
4:155262775 (GRCh37)
Canonical SPDI:: NC_000004.12:154341615:ACACACACA:ACACACA,NC_000004.12:154341615:ACACACACA:ACACACACACA
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
AC=0.00006/1 (TOMMO)
HGVS:: NC_000004.12:g.154341617CA[3], NC_000004.12:g.154341617CA[5], NC_000004.11:g.155262769CA[3], NC_000004.11:g.155262769CA[5], NG_054879.1:g.155156GT[3], NG_054879.1:g.155156GT[5], NW_017363814.1:g.269246CA[3], NW_017363814.1:g.269246CA[5]

Select item 149127231417.

rs1491272314 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTATATATACACACATATGAAATATATATACGTGTATATATAC [Show Flanks]
Chromosome:: 4:154302853 (GRCh38)
4:155224006 (GRCh37)
Canonical SPDI:: NC_000004.12:154302853:TATATATACGTGTATATATACACACATATGAAATATATATACGTGTATATATAC:TATATATACGTGTATATATACACACATATGAAATATATATACGTGTATATATACGTGTATATATACACACATATGAAATATATATACGTGTATATATAC
Gene:: DCHS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: TATATATACGTGTATATATACACACATATGAAATATATATACGTG=0.000019/2 (GnomAD)
HGVS:: NC_000004.12:g.154302863_154302907dup, NC_000004.11:g.155224015_155224059dup, NG_054879.1:g.193881_193925dup, NW_017363814.1:g.230492_230536dup

Select item 149124313718.

rs1491243137 has merged into rs779429701 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCCC [Show Flanks]
Chromosome:: 4:154259500 (GRCh38)
4:155180652 (GRCh37)
Canonical SPDI:: NC_000004.12:154259498:CCC:C,NC_000004.12:154259498:CCC:CC,NC_000004.12:154259498:CCC:CCCCC
Gene:: DCHS2 (Varview), LOC101927947 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.00006/8 (GnomAD)
HGVS:: NC_000004.12:g.154259500_154259501del, NC_000004.12:g.154259501del, NC_000004.12:g.154259500_154259501dup, NC_000004.11:g.155180652_155180653del, NC_000004.11:g.155180653del, NC_000004.11:g.155180652_155180653dup, NG_054879.1:g.237279_237280del, NG_054879.1:g.237280del, NG_054879.1:g.237279_237280dup, NW_017363814.1:g.187129_187130del, NW_017363814.1:g.187130del, NW_017363814.1:g.187129_187130dup

Select item 149121465019.

rs1491214650 has merged into rs35984605 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:154303495 (GRCh38)
4:155224647 (GRCh37)
Canonical SPDI:: NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:154303484:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.2628/1316 (1000Genomes)
HGVS:: NC_000004.12:g.154303495_154303504del, NC_000004.12:g.154303497_154303504del, NC_000004.12:g.154303499_154303504del, NC_000004.12:g.154303500_154303504del, NC_000004.12:g.154303501_154303504del, NC_000004.12:g.154303502_154303504del, NC_000004.12:g.154303503_154303504del, NC_000004.12:g.154303504del, NC_000004.12:g.154303504dup, NC_000004.12:g.154303503_154303504dup, NC_000004.12:g.154303502_154303504dup, NC_000004.12:g.154303501_154303504dup, NC_000004.12:g.154303500_154303504dup, NC_000004.12:g.154303498_154303504dup, NC_000004.12:g.154303496_154303504dup, NC_000004.12:g.154303494_154303504dup, NC_000004.11:g.155224647_155224656del, NC_000004.11:g.155224649_155224656del, NC_000004.11:g.155224651_155224656del, NC_000004.11:g.155224652_155224656del, NC_000004.11:g.155224653_155224656del, NC_000004.11:g.155224654_155224656del, NC_000004.11:g.155224655_155224656del, NC_000004.11:g.155224656del, NC_000004.11:g.155224656dup, NC_000004.11:g.155224655_155224656dup, NC_000004.11:g.155224654_155224656dup, NC_000004.11:g.155224653_155224656dup, NC_000004.11:g.155224652_155224656dup, NC_000004.11:g.155224650_155224656dup, NC_000004.11:g.155224648_155224656dup, NC_000004.11:g.155224646_155224656dup, NG_054879.1:g.193285_193294del, NG_054879.1:g.193287_193294del, NG_054879.1:g.193289_193294del, NG_054879.1:g.193290_193294del, NG_054879.1:g.193291_193294del, NG_054879.1:g.193292_193294del, NG_054879.1:g.193293_193294del, NG_054879.1:g.193294del, NG_054879.1:g.193294dup, NG_054879.1:g.193293_193294dup, NG_054879.1:g.193292_193294dup, NG_054879.1:g.193291_193294dup, NG_054879.1:g.193290_193294dup, NG_054879.1:g.193288_193294dup, NG_054879.1:g.193286_193294dup, NG_054879.1:g.193284_193294dup, NW_017363814.1:g.231124_231133del, NW_017363814.1:g.231126_231133del, NW_017363814.1:g.231128_231133del, NW_017363814.1:g.231129_231133del, NW_017363814.1:g.231130_231133del, NW_017363814.1:g.231131_231133del, NW_017363814.1:g.231132_231133del, NW_017363814.1:g.231133del, NW_017363814.1:g.231133dup, NW_017363814.1:g.231132_231133dup, NW_017363814.1:g.231131_231133dup, NW_017363814.1:g.231130_231133dup, NW_017363814.1:g.231129_231133dup, NW_017363814.1:g.231127_231133dup, NW_017363814.1:g.231125_231133dup, NW_017363814.1:g.231123_231133dup

Select item 149119536920.

rs1491195369 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:154459734 (GRCh38)
4:155380886 (GRCh37)
Canonical SPDI:: NC_000004.12:154459733:TT:
Gene:: DCHS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.154459734_154459735del, NC_000004.11:g.155380886_155380887del, NG_054879.1:g.37044_37045del, NW_017363814.1:g.387363_387364del

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