SNP Links for Nucleotide (Select 855145258) - SNP

Links from Nucleotide

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Select item 14915774951.

rs1491577495 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:70155716 (GRCh38)
4:71021433 (GRCh37)
Canonical SPDI:: NC_000004.12:70155715:CC:
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.70155716_70155717del, NC_000004.11:g.71021433_71021434del, NW_013171801.1:g.200302_200303del

Select item 14915669352.

rs1491566935 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 4:70088936 (GRCh38)
4:70954654 (GRCh37)
Canonical SPDI:: NC_000004.12:70088936:TT:TTCTT
HGVS:: NC_000004.12:g.70088938_70088939insCTT, NC_000004.11:g.70954655_70954656insCTT, NW_013171801.1:g.129055_129056insCTT

Select item 14915600393.

rs1491560039 has merged into rs34180406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:70088944 (GRCh38)
4:70954661 (GRCh37)
Canonical SPDI:: NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:70088935:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.325/13 (GENOME_DK)
-=0.4151/2079 (1000Genomes)
HGVS:: NC_000004.12:g.70088944_70088953del, NC_000004.12:g.70088946_70088953del, NC_000004.12:g.70088948_70088953del, NC_000004.12:g.70088951_70088953del, NC_000004.12:g.70088952_70088953del, NC_000004.12:g.70088953del, NC_000004.12:g.70088953dup, NC_000004.12:g.70088952_70088953dup, NC_000004.12:g.70088951_70088953dup, NC_000004.12:g.70088950_70088953dup, NC_000004.12:g.70088949_70088953dup, NC_000004.12:g.70088948_70088953dup, NC_000004.12:g.70088947_70088953dup, NC_000004.12:g.70088946_70088953dup, NC_000004.12:g.70088945_70088953dup, NC_000004.12:g.70088944_70088953dup, NC_000004.12:g.70088943_70088953dup, NC_000004.12:g.70088942_70088953dup, NC_000004.11:g.70954661_70954670del, NC_000004.11:g.70954663_70954670del, NC_000004.11:g.70954665_70954670del, NC_000004.11:g.70954668_70954670del, NC_000004.11:g.70954669_70954670del, NC_000004.11:g.70954670del, NC_000004.11:g.70954670dup, NC_000004.11:g.70954669_70954670dup, NC_000004.11:g.70954668_70954670dup, NC_000004.11:g.70954667_70954670dup, NC_000004.11:g.70954666_70954670dup, NC_000004.11:g.70954665_70954670dup, NC_000004.11:g.70954664_70954670dup, NC_000004.11:g.70954663_70954670dup, NC_000004.11:g.70954662_70954670dup, NC_000004.11:g.70954661_70954670dup, NC_000004.11:g.70954660_70954670dup, NC_000004.11:g.70954659_70954670dup, NW_013171801.1:g.129061_129070del, NW_013171801.1:g.129063_129070del, NW_013171801.1:g.129065_129070del, NW_013171801.1:g.129068_129070del, NW_013171801.1:g.129069_129070del, NW_013171801.1:g.129070del, NW_013171801.1:g.129070dup, NW_013171801.1:g.129069_129070dup, NW_013171801.1:g.129068_129070dup, NW_013171801.1:g.129067_129070dup, NW_013171801.1:g.129066_129070dup, NW_013171801.1:g.129065_129070dup, NW_013171801.1:g.129064_129070dup, NW_013171801.1:g.129063_129070dup, NW_013171801.1:g.129062_129070dup, NW_013171801.1:g.129061_129070dup, NW_013171801.1:g.129060_129070dup, NW_013171801.1:g.129059_129070dup

Select item 14915456774.

rs1491545677 has merged into rs368911393 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:70100956 (GRCh38)
4:70966673 (GRCh37)
Canonical SPDI:: NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70100946:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.70100956_70100966del, NC_000004.12:g.70100957_70100966del, NC_000004.12:g.70100958_70100966del, NC_000004.12:g.70100959_70100966del, NC_000004.12:g.70100960_70100966del, NC_000004.12:g.70100961_70100966del, NC_000004.12:g.70100963_70100966del, NC_000004.12:g.70100964_70100966del, NC_000004.12:g.70100965_70100966del, NC_000004.12:g.70100966del, NC_000004.12:g.70100966dup, NC_000004.12:g.70100965_70100966dup, NC_000004.12:g.70100964_70100966dup, NC_000004.12:g.70100963_70100966dup, NC_000004.12:g.70100962_70100966dup, NC_000004.12:g.70100966_70100967insAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.70966673_70966683del, NC_000004.11:g.70966674_70966683del, NC_000004.11:g.70966675_70966683del, NC_000004.11:g.70966676_70966683del, NC_000004.11:g.70966677_70966683del, NC_000004.11:g.70966678_70966683del, NC_000004.11:g.70966680_70966683del, NC_000004.11:g.70966681_70966683del, NC_000004.11:g.70966682_70966683del, NC_000004.11:g.70966683del, NC_000004.11:g.70966683dup, NC_000004.11:g.70966682_70966683dup, NC_000004.11:g.70966681_70966683dup, NC_000004.11:g.70966680_70966683dup, NC_000004.11:g.70966679_70966683dup, NC_000004.11:g.70966683_70966684insAAAAAAAAAAAAAAAAAAAAA, NW_013171801.1:g.145542_145552del, NW_013171801.1:g.145543_145552del, NW_013171801.1:g.145544_145552del, NW_013171801.1:g.145545_145552del, NW_013171801.1:g.145546_145552del, NW_013171801.1:g.145547_145552del, NW_013171801.1:g.145549_145552del, NW_013171801.1:g.145550_145552del, NW_013171801.1:g.145551_145552del, NW_013171801.1:g.145552del, NW_013171801.1:g.145552dup, NW_013171801.1:g.145551_145552dup, NW_013171801.1:g.145550_145552dup, NW_013171801.1:g.145549_145552dup, NW_013171801.1:g.145548_145552dup, NW_013171801.1:g.145552_145553insAAAAAAAAAAAAAAAAAAAAA

Select item 14915281625.

rs1491528162 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:70133251 (GRCh38)
4:70998968 (GRCh37)
Canonical SPDI:: NC_000004.12:70133250:CA:
Gene:: CSN1S2BP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.70133251_70133252del, NC_000004.11:g.70998968_70998969del, NW_013171801.1:g.177837_177838del

Select item 14915280196.

rs1491528019 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:70166749 (GRCh38)
4:71032467 (GRCh37)
Canonical SPDI:: NC_000004.12:70166749:TGTGTGT:TGTGTGTGT
Gene:: PRR27 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGT=0./0 (ALFA)
TG=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.70166751GT[4], NC_000004.11:g.71032468GT[4], NW_013171801.1:g.211337GT[4]

Select item 14915175727.

rs1491517572 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:70010207 (GRCh38)
4:70875925 (GRCh37)
Canonical SPDI:: NC_000004.12:70010207::A
Validated:: by frequency,by cluster
MAF:: A=0.000202/27 (GnomAD)
HGVS:: NC_000004.12:g.70010207_70010208insA, NC_000004.11:g.70875924_70875925insA, NW_013171801.1:g.50343_50344insA

Select item 14914811228.

rs1491481122 has merged into rs1205230845 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:70082323 (GRCh38)
4:70948040 (GRCh37)
Canonical SPDI:: NC_000004.12:70082321:AGA:A
Gene:: CSN1S2AP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.70082323_70082324del, NC_000004.11:g.70948040_70948041del, NW_013171801.1:g.122460_122461del

Select item 14914273199.

rs1491427319 has merged into rs71210150 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:70160461 (GRCh38)
4:71026178 (GRCh37)
Canonical SPDI:: NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:70160443:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.70160445GT[8], NC_000004.12:g.70160445GT[9], NC_000004.12:g.70160445GT[11], NC_000004.12:g.70160445GT[12], NC_000004.12:g.70160445GT[13], NC_000004.12:g.70160445GT[14], NC_000004.12:g.70160445GT[16], NC_000004.12:g.70160445GT[17], NC_000004.12:g.70160445GT[18], NC_000004.12:g.70160445GT[19], NC_000004.12:g.70160445GT[20], NC_000004.12:g.70160445GT[21], NC_000004.12:g.70160445GT[22], NC_000004.12:g.70160445GT[23], NC_000004.12:g.70160445GT[24], NC_000004.12:g.70160445GT[25], NC_000004.12:g.70160445GT[26], NC_000004.12:g.70160445GT[27], NC_000004.12:g.70160445GT[28], NC_000004.11:g.71026162GT[8], NC_000004.11:g.71026162GT[9], NC_000004.11:g.71026162GT[11], NC_000004.11:g.71026162GT[12], NC_000004.11:g.71026162GT[13], NC_000004.11:g.71026162GT[14], NC_000004.11:g.71026162GT[16], NC_000004.11:g.71026162GT[17], NC_000004.11:g.71026162GT[18], NC_000004.11:g.71026162GT[19], NC_000004.11:g.71026162GT[20], NC_000004.11:g.71026162GT[21], NC_000004.11:g.71026162GT[22], NC_000004.11:g.71026162GT[23], NC_000004.11:g.71026162GT[24], NC_000004.11:g.71026162GT[25], NC_000004.11:g.71026162GT[26], NC_000004.11:g.71026162GT[27], NC_000004.11:g.71026162GT[28], NW_013171801.1:g.205031GT[8], NW_013171801.1:g.205031GT[9], NW_013171801.1:g.205031GT[11], NW_013171801.1:g.205031GT[12], NW_013171801.1:g.205031GT[13], NW_013171801.1:g.205031GT[14], NW_013171801.1:g.205031GT[16], NW_013171801.1:g.205031GT[17], NW_013171801.1:g.205031GT[18], NW_013171801.1:g.205031GT[19], NW_013171801.1:g.205031GT[20], NW_013171801.1:g.205031GT[21], NW_013171801.1:g.205031GT[22], NW_013171801.1:g.205031GT[23], NW_013171801.1:g.205031GT[24], NW_013171801.1:g.205031GT[25], NW_013171801.1:g.205031GT[26], NW_013171801.1:g.205031GT[27], NW_013171801.1:g.205031GT[28]

Select item 149140945510.

rs1491409455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 4:70155715 (GRCh38)
4:71021433 (GRCh37)
Canonical SPDI:: NC_000004.12:70155715:CC:CCCC
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
CC=0.000066/9 (GnomAD)
HGVS:: NC_000004.12:g.70155716_70155717dup, NC_000004.11:g.71021433_71021434dup, NW_013171801.1:g.200302_200303dup

Select item 149140218411.

rs1491402184 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:70010208 (GRCh38)
4:70875925 (GRCh37)
Canonical SPDI:: NC_000004.12:70010206:TTT:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.70010208_70010209del, NC_000004.11:g.70875925_70875926del, NW_013171801.1:g.50344_50345del

Select item 149137840412.

rs1491378404 [Homo sapiens]

Variant type:: SNV:
Alleles:: AT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149131012513.

rs1491310125 has merged into rs941174447 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 4:70160029 (GRCh38)
4:71025746 (GRCh37)
Canonical SPDI:: NC_000004.12:70160028:AAAAAAAAAA:AAAAAAAAA,NC_000004.12:70160028:AAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:70160028:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.00382/7 (Korea1K)
HGVS:: NC_000004.12:g.70160038del, NC_000004.12:g.70160038dup, NC_000004.12:g.70160037_70160038dup, NC_000004.11:g.71025755del, NC_000004.11:g.71025755dup, NC_000004.11:g.71025754_71025755dup, NW_013171801.1:g.204624del, NW_013171801.1:g.204624dup, NW_013171801.1:g.204623_204624dup

Select item 149121971214.

rs1491219712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATATATATATAT [Show Flanks]
Chromosome:: 4:70092166 (GRCh38)
4:70957884 (GRCh37)
Canonical SPDI:: NC_000004.12:70092166:ATATATATATAT:ATATATATATATGATATATATATAT
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATGATATATATATAT=0.00017/2 (ALFA)
ATATATATATATG=0.00198/22 (GnomAD)
HGVS:: NC_000004.12:g.70092167_70092178AT[6]GATATATATATAT[1], NC_000004.11:g.70957884_70957895AT[6]GATATATATATAT[1], NW_013171801.1:g.132298_132309AT[6]GATATATATATAT[1]

Select item 149120576615.

rs1491205766 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATTATTAT [Show Flanks]
Chromosome:: 4:70047381 (GRCh38)
4:70913099 (GRCh37)
Canonical SPDI:: NC_000004.12:70047381:ATTATTAT:ATTATTATCATTATTAT
Validated:: by frequency,by alfa,by cluster
MAF:: ATTATTATCATTATTAT=0.00008/1 (ALFA)
ATTATTATC=0.00002/2 (GnomAD)
HGVS:: NC_000004.12:g.70047382_70047389ATT[2]ATCATTATTAT[1], NC_000004.11:g.70913099_70913106ATT[2]ATCATTATTAT[1], NW_013171801.1:g.87518_87525ATT[2]ATCATTATTAT[1]

Select item 149119837516.

rs1491198375 has merged into rs58549216 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:70133257 (GRCh38)
4:70998974 (GRCh37)
Canonical SPDI:: NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:70133251:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CSN1S2BP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.70133257_70133267del, NC_000004.12:g.70133261_70133267del, NC_000004.12:g.70133262_70133267del, NC_000004.12:g.70133264_70133267del, NC_000004.12:g.70133265_70133267del, NC_000004.12:g.70133266_70133267del, NC_000004.12:g.70133267del, NC_000004.12:g.70133267dup, NC_000004.12:g.70133266_70133267dup, NC_000004.12:g.70133265_70133267dup, NC_000004.12:g.70133264_70133267dup, NC_000004.12:g.70133260_70133267dup, NC_000004.12:g.70133254_70133267dup, NC_000004.12:g.70133252_70133267dup, NC_000004.12:g.70133267_70133268insAAAAAAAAAAAAAAAAA, NC_000004.12:g.70133267_70133268insAAAAAAAAAAAAAAAAAA, NC_000004.12:g.70133267_70133268insAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.70998974_70998984del, NC_000004.11:g.70998978_70998984del, NC_000004.11:g.70998979_70998984del, NC_000004.11:g.70998981_70998984del, NC_000004.11:g.70998982_70998984del, NC_000004.11:g.70998983_70998984del, NC_000004.11:g.70998984del, NC_000004.11:g.70998984dup, NC_000004.11:g.70998983_70998984dup, NC_000004.11:g.70998982_70998984dup, NC_000004.11:g.70998981_70998984dup, NC_000004.11:g.70998977_70998984dup, NC_000004.11:g.70998971_70998984dup, NC_000004.11:g.70998969_70998984dup, NC_000004.11:g.70998984_70998985insAAAAAAAAAAAAAAAAA, NC_000004.11:g.70998984_70998985insAAAAAAAAAAAAAAAAAA, NC_000004.11:g.70998984_70998985insAAAAAAAAAAAAAAAAAAAAA, NW_013171801.1:g.177843_177853del, NW_013171801.1:g.177847_177853del, NW_013171801.1:g.177848_177853del, NW_013171801.1:g.177850_177853del, NW_013171801.1:g.177851_177853del, NW_013171801.1:g.177852_177853del, NW_013171801.1:g.177853del, NW_013171801.1:g.177853dup, NW_013171801.1:g.177852_177853dup, NW_013171801.1:g.177851_177853dup, NW_013171801.1:g.177850_177853dup, NW_013171801.1:g.177846_177853dup, NW_013171801.1:g.177840_177853dup, NW_013171801.1:g.177838_177853dup, NW_013171801.1:g.177853_177854insAAAAAAAAAAAAAAAAA, NW_013171801.1:g.177853_177854insAAAAAAAAAAAAAAAAAA, NW_013171801.1:g.177853_177854insAAAAAAAAAAAAAAAAAAAAA

Select item 149116971117.

rs1491169711 has merged into rs148520803 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG,AGAGAG [Show Flanks]
Chromosome:: 4:69984222 (GRCh38)
4:70849939 (GRCh37)
Canonical SPDI:: NC_000004.12:69984210:GAGAGAGAGAGAG:GAGAGAGAGAG,NC_000004.12:69984210:GAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000004.12:69984210:GAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGAG=0./0 (ALFA)
GAGA=0.000023/6 (TOPMED)
GA=0.011022/11 (GoNL)
GA=0.011667/7 (NorthernSweden)
GA=0.017411/78 (Estonian)
GA=0.018582/93 (1000Genomes)
GA=0.023585/5 (Vietnamese)
GA=0.025/1 (GENOME_DK)
GA=0.049508/830 (TOMMO)
HGVS:: NC_000004.12:g.69984212AG[5], NC_000004.12:g.69984212AG[7], NC_000004.12:g.69984212AG[8], NC_000004.11:g.70849929AG[5], NC_000004.11:g.70849929AG[7], NC_000004.11:g.70849929AG[8], NW_013171801.1:g.24348AG[5], NW_013171801.1:g.24348AG[7], NW_013171801.1:g.24348AG[8]

Select item 149113832618.

rs1491138326 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:70166749 (GRCh38)
4:71032466 (GRCh37)
Canonical SPDI:: NC_000004.12:70166748:AT:
Gene:: PRR27 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.70166749_70166750del, NC_000004.11:g.71032466_71032467del, NW_013171801.1:g.211335_211336del

Select item 149111076019.

rs1491110760 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCTCG,CTCTCTCTCTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 4:70160444 (GRCh38)
4:71026162 (GRCh37)
Canonical SPDI:: NC_000004.12:70160444::CTCTCG,NC_000004.12:70160444::CTCTCTCTCTGTGTGTGTGTGTG
Gene:: PRR27 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCTCG=0./0 (ALFA)
HGVS:: NC_000004.12:g.70160444_70160445insCTCTCG, NC_000004.12:g.70160444_70160445insCTCTCTCTCTGTGTGTGTGTGTG, NC_000004.11:g.71026161_71026162insCTCTCG, NC_000004.11:g.71026161_71026162insCTCTCTCTCTGTGTGTGTGTGTG, NW_013171801.1:g.205030_205031insCTCTCG, NW_013171801.1:g.205030_205031insCTCTCTCTCTGTGTGTGTGTGTG

Select item 149108868020.

rs1491088680 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:70169365 (GRCh38)
4:71035082 (GRCh37)
Canonical SPDI:: NC_000004.12:70169364:CT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000038/2 (GnomAD)
HGVS:: NC_000004.12:g.70169365_70169366del, NC_000004.11:g.71035082_71035083del, NW_013171801.1:g.213951_213952del

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