SNP Links for Nucleotide (Select 425854836) - SNP

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Select item 14915505371.

rs1491550537 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTTTA [Show Flanks]
Chromosome:: 17:43649314 (GRCh38)
17:41726683 (GRCh37)
Canonical SPDI:: NC_000017.11:43649314::TA,NC_000017.11:43649314::TTTTA
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTA=0.0004/2 (ALFA)
HGVS:: NC_000017.11:g.43649314_43649315insTA, NC_000017.11:g.43649314_43649315insTTTTA, NC_000017.10:g.41726682_41726683insTA, NC_000017.10:g.41726682_41726683insTTTTA, NG_032987.1:g.17580_17581insTA, NG_032987.1:g.17580_17581insTAAAA

Select item 14914809502.

rs1491480950 has merged into rs34440413 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:43639944 (GRCh38)
17:41717312 (GRCh37)
Canonical SPDI:: NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43639934:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA
Gene:: MEOX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAA=0.000004/1 (TOPMED)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.005435/3 (NorthernSweden)
AA=0.35/14 (GENOME_DK)
HGVS:: NC_000017.11:g.43639944_43639954del, NC_000017.11:g.43639948_43639954del, NC_000017.11:g.43639951_43639954del, NC_000017.11:g.43639952_43639954del, NC_000017.11:g.43639953_43639954del, NC_000017.11:g.43639954del, NC_000017.11:g.43639954dup, NC_000017.11:g.43639953_43639954dup, NC_000017.11:g.43639952_43639954dup, NC_000017.11:g.43639950_43639954dup, NC_000017.11:g.43639949_43639954dup, NC_000017.11:g.43639945_43639954dup, NC_000017.11:g.43639942_43639954dup, NC_000017.11:g.43639954_43639955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43639935_43639954A[22]CAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.41717312_41717322del, NC_000017.10:g.41717316_41717322del, NC_000017.10:g.41717319_41717322del, NC_000017.10:g.41717320_41717322del, NC_000017.10:g.41717321_41717322del, NC_000017.10:g.41717322del, NC_000017.10:g.41717322dup, NC_000017.10:g.41717321_41717322dup, NC_000017.10:g.41717320_41717322dup, NC_000017.10:g.41717318_41717322dup, NC_000017.10:g.41717317_41717322dup, NC_000017.10:g.41717313_41717322dup, NC_000017.10:g.41717310_41717322dup, NC_000017.10:g.41717322_41717323insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41717303_41717322A[22]CAAAAAAAAAAAAAAAAAAAAAA[1], NG_032987.1:g.26950_26960del, NG_032987.1:g.26954_26960del, NG_032987.1:g.26957_26960del, NG_032987.1:g.26958_26960del, NG_032987.1:g.26959_26960del, NG_032987.1:g.26960del, NG_032987.1:g.26960dup, NG_032987.1:g.26959_26960dup, NG_032987.1:g.26958_26960dup, NG_032987.1:g.26956_26960dup, NG_032987.1:g.26955_26960dup, NG_032987.1:g.26951_26960dup, NG_032987.1:g.26948_26960dup, NG_032987.1:g.26960_26961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032987.1:g.26941_26960T[22]GTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914762243.

rs1491476224 has merged into rs1491325573 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTATTT,TTTT [Show Flanks]
Chromosome:: 17:43657016 (GRCh38)
17:41734384 (GRCh37)
Canonical SPDI:: NC_000017.11:43657014:TTT:T,NC_000017.11:43657014:TTT:TTTATTT,NC_000017.11:43657014:TTT:TTTTT
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTATTT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000017.11:g.43657016_43657017del, NC_000017.11:g.43657017_43657018insATTT, NC_000017.11:g.43657016_43657017dup, NC_000017.10:g.41734384_41734385del, NC_000017.10:g.41734385_41734386insATTT, NC_000017.10:g.41734384_41734385dup, NG_032987.1:g.9879_9880del, NG_032987.1:g.9880_9881insTAAA, NG_032987.1:g.9879_9880dup

Select item 14914455344.

rs1491445534 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:43665491 (GRCh38)
17:41742859 (GRCh37)
Canonical SPDI:: NC_000017.11:43665490:CT:
Validated:: by frequency,by cluster
MAF:: -=0.0008/3 (ALSPAC)
-=0.0024/9 (TWINSUK)
HGVS:: NC_000017.11:g.43665491_43665492del, NC_000017.10:g.41742859_41742860del, NG_032987.1:g.1403_1404del

Select item 14914352015.

rs1491435201 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCTGTTTGTTCA [Show Flanks]
Chromosome:: 17:43656995 (GRCh38)
17:41734364 (GRCh37)
Canonical SPDI:: NC_000017.11:43656995::CCCTGTTTGTTCA
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCCTGTTTGTTCA=0.000084/1 (ALFA)
CCCTGTTTGTTCA=0.00008/10 (GnomAD)
HGVS:: NC_000017.11:g.43656995_43656996insCCCTGTTTGTTCA, NC_000017.10:g.41734363_41734364insCCCTGTTTGTTCA, NG_032987.1:g.9899_9900insTGAACAAACAGGG

Select item 14914350856.

rs1491435085 has merged into rs397856379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:43652836 (GRCh38)
17:41730204 (GRCh37)
Canonical SPDI:: NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43652825:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.43652836_43652849del, NC_000017.11:g.43652837_43652849del, NC_000017.11:g.43652838_43652849del, NC_000017.11:g.43652839_43652849del, NC_000017.11:g.43652841_43652849del, NC_000017.11:g.43652842_43652849del, NC_000017.11:g.43652843_43652849del, NC_000017.11:g.43652844_43652849del, NC_000017.11:g.43652845_43652849del, NC_000017.11:g.43652846_43652849del, NC_000017.11:g.43652847_43652849del, NC_000017.11:g.43652848_43652849del, NC_000017.11:g.43652849del, NC_000017.11:g.43652849dup, NC_000017.11:g.43652848_43652849dup, NC_000017.11:g.43652847_43652849dup, NC_000017.11:g.43652846_43652849dup, NC_000017.11:g.43652845_43652849dup, NC_000017.11:g.43652844_43652849dup, NC_000017.11:g.43652843_43652849dup, NC_000017.11:g.43652842_43652849dup, NC_000017.11:g.43652841_43652849dup, NC_000017.11:g.43652840_43652849dup, NC_000017.11:g.43652839_43652849dup, NC_000017.10:g.41730204_41730217del, NC_000017.10:g.41730205_41730217del, NC_000017.10:g.41730206_41730217del, NC_000017.10:g.41730207_41730217del, NC_000017.10:g.41730209_41730217del, NC_000017.10:g.41730210_41730217del, NC_000017.10:g.41730211_41730217del, NC_000017.10:g.41730212_41730217del, NC_000017.10:g.41730213_41730217del, NC_000017.10:g.41730214_41730217del, NC_000017.10:g.41730215_41730217del, NC_000017.10:g.41730216_41730217del, NC_000017.10:g.41730217del, NC_000017.10:g.41730217dup, NC_000017.10:g.41730216_41730217dup, NC_000017.10:g.41730215_41730217dup, NC_000017.10:g.41730214_41730217dup, NC_000017.10:g.41730213_41730217dup, NC_000017.10:g.41730212_41730217dup, NC_000017.10:g.41730211_41730217dup, NC_000017.10:g.41730210_41730217dup, NC_000017.10:g.41730209_41730217dup, NC_000017.10:g.41730208_41730217dup, NC_000017.10:g.41730207_41730217dup, NG_032987.1:g.14056_14069del, NG_032987.1:g.14057_14069del, NG_032987.1:g.14058_14069del, NG_032987.1:g.14059_14069del, NG_032987.1:g.14061_14069del, NG_032987.1:g.14062_14069del, NG_032987.1:g.14063_14069del, NG_032987.1:g.14064_14069del, NG_032987.1:g.14065_14069del, NG_032987.1:g.14066_14069del, NG_032987.1:g.14067_14069del, NG_032987.1:g.14068_14069del, NG_032987.1:g.14069del, NG_032987.1:g.14069dup, NG_032987.1:g.14068_14069dup, NG_032987.1:g.14067_14069dup, NG_032987.1:g.14066_14069dup, NG_032987.1:g.14065_14069dup, NG_032987.1:g.14064_14069dup, NG_032987.1:g.14063_14069dup, NG_032987.1:g.14062_14069dup, NG_032987.1:g.14061_14069dup, NG_032987.1:g.14060_14069dup, NG_032987.1:g.14059_14069dup

Select item 14914230107.

rs1491423010 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT [Show Flanks]
Chromosome:: 17:43657040 (GRCh38)
17:41734408 (GRCh37)
Canonical SPDI:: NC_000017.11:43657038:TTT:T,NC_000017.11:43657038:TTT:TTTT,NC_000017.11:43657038:TTT:TTTTT
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
-=0.000053/6 (GnomAD)
HGVS:: NC_000017.11:g.43657040_43657041del, NC_000017.11:g.43657041dup, NC_000017.11:g.43657040_43657041dup, NC_000017.10:g.41734408_41734409del, NC_000017.10:g.41734409dup, NC_000017.10:g.41734408_41734409dup, NG_032987.1:g.9855_9856del, NG_032987.1:g.9856dup, NG_032987.1:g.9855_9856dup

Select item 14913532108.

rs1491353210 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:43649314 (GRCh38)
17:41726682 (GRCh37)
Canonical SPDI:: NC_000017.11:43649313:TG:
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.003288/39 (ALFA)
-=0.000124/16 (GnomAD)
HGVS:: NC_000017.11:g.43649314_43649315del, NC_000017.10:g.41726682_41726683del, NG_032987.1:g.17580_17581del

Select item 14913255739.

rs1491325573 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTATTT,TTTT [Show Flanks]
Chromosome:: 17:43657016 (GRCh38)
17:41734384 (GRCh37)
Canonical SPDI:: NC_000017.11:43657014:TTT:T,NC_000017.11:43657014:TTT:TTTATTT,NC_000017.11:43657014:TTT:TTTTT
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTATTT=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000017.11:g.43657016_43657017del, NC_000017.11:g.43657017_43657018insATTT, NC_000017.11:g.43657016_43657017dup, NC_000017.10:g.41734384_41734385del, NC_000017.10:g.41734385_41734386insATTT, NC_000017.10:g.41734384_41734385dup, NG_032987.1:g.9879_9880del, NG_032987.1:g.9880_9881insTAAA, NG_032987.1:g.9879_9880dup

Select item 149130991010.

rs1491309910 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:43664168 (GRCh38)
17:41741537 (GRCh37)
Canonical SPDI:: NC_000017.11:43664168::C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00006/2 (GnomAD)
HGVS:: NC_000017.11:g.43664168_43664169insC, NC_000017.10:g.41741536_41741537insC, NG_032987.1:g.2726_2727insG

Select item 149127181011.

rs1491271810 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTTC [Show Flanks]
Chromosome:: 17:43657015 (GRCh38)
17:41734384 (GRCh37)
Canonical SPDI:: NC_000017.11:43657015::CTTTC
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.43657015_43657016insCTTTC, NC_000017.10:g.41734383_41734384insCTTTC, NG_032987.1:g.9879_9880insGAAAG

Select item 149124384312.

rs1491243843 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 17:43652826 (GRCh38)
17:41730195 (GRCh37)
Canonical SPDI:: NC_000017.11:43652826:T:TAT
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TA=0.00398/69 (GnomAD)
HGVS:: NC_000017.11:g.43652827_43652828insAT, NC_000017.10:g.41730195_41730196insAT, NG_032987.1:g.14068_14069insTA

Select item 149114322513.

rs1491143225 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTTTTT [Show Flanks]
Chromosome:: 17:43656996 (GRCh38)
17:41734364 (GRCh37)
Canonical SPDI:: NC_000017.11:43656994:TTTTT:T,NC_000017.11:43656994:TTTTT:TTT,NC_000017.11:43656994:TTTTT:TTTTTTT
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.43656996_43656999del, NC_000017.11:g.43656998_43656999del, NC_000017.11:g.43656998_43656999dup, NC_000017.10:g.41734364_41734367del, NC_000017.10:g.41734366_41734367del, NC_000017.10:g.41734366_41734367dup, NG_032987.1:g.9897_9900del, NG_032987.1:g.9899_9900del, NG_032987.1:g.9899_9900dup

Select item 149111304414.

rs1491113044 has merged into rs35717193 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 17:43664175 (GRCh38)
17:41741543 (GRCh37)
Canonical SPDI:: NC_000017.11:43664167:TTTTTTTTTT:TTTTTTT,NC_000017.11:43664167:TTTTTTTTTT:TTTTTTTT,NC_000017.11:43664167:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:43664167:TTTTTTTTTT:TTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.094203/1579 (TOMMO)
T=0.108079/198 (Korea1K)
T=0.3/12 (GENOME_DK)
T=0.411042/1839 (Estonian)
T=0.420861/1622 (ALSPAC)
T=0.435814/1616 (TWINSUK)
T=0.456667/274 (NorthernSweden)
T=0.459606/121653 (TOPMED)
T=0.5/2504 (1000Genomes)
HGVS:: NC_000017.11:g.43664175_43664177del, NC_000017.11:g.43664176_43664177del, NC_000017.11:g.43664177del, NC_000017.11:g.43664177dup, NC_000017.10:g.41741543_41741545del, NC_000017.10:g.41741544_41741545del, NC_000017.10:g.41741545del, NC_000017.10:g.41741545dup, NG_032987.1:g.2725_2727del, NG_032987.1:g.2726_2727del, NG_032987.1:g.2727del, NG_032987.1:g.2727dup

Select item 149107633415.

rs1491076334 has merged into rs397701349 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 17:43661684 (GRCh38)
17:41739052 (GRCh37)
Canonical SPDI:: NC_000017.11:43661671:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:43661671:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43661671:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:43661671:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43661671:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43661671:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.02333/14 (NorthernSweden)
-=0.15875/795 (1000Genomes)
HGVS:: NC_000017.11:g.43661684_43661686del, NC_000017.11:g.43661685_43661686del, NC_000017.11:g.43661686del, NC_000017.11:g.43661686dup, NC_000017.11:g.43661685_43661686dup, NC_000017.11:g.43661684_43661686dup, NC_000017.10:g.41739052_41739054del, NC_000017.10:g.41739053_41739054del, NC_000017.10:g.41739054del, NC_000017.10:g.41739054dup, NC_000017.10:g.41739053_41739054dup, NC_000017.10:g.41739052_41739054dup, NG_032987.1:g.5221_5223del, NG_032987.1:g.5222_5223del, NG_032987.1:g.5223del, NG_032987.1:g.5223dup, NG_032987.1:g.5222_5223dup, NG_032987.1:g.5221_5223dup, NM_004527.4:c.-140_-138del, NM_004527.4:c.-139_-138del, NM_004527.4:c.-138del, NM_004527.4:c.-138dup, NM_004527.4:c.-139_-138dup, NM_004527.4:c.-140_-138dup, NM_013999.4:c.-140_-138del, NM_013999.4:c.-139_-138del, NM_013999.4:c.-138del, NM_013999.4:c.-138dup, NM_013999.4:c.-139_-138dup, NM_013999.4:c.-140_-138dup, XM_011524818.3:c.-140_-138del, XM_011524818.3:c.-139_-138del, XM_011524818.3:c.-138del, XM_011524818.3:c.-138dup, XM_011524818.3:c.-139_-138dup, XM_011524818.3:c.-140_-138dup, XM_011524818.2:c.-140_-138del, XM_011524818.2:c.-139_-138del, XM_011524818.2:c.-138del, XM_011524818.2:c.-138dup, XM_011524818.2:c.-139_-138dup, XM_011524818.2:c.-140_-138dup, XM_011524818.1:c.-140_-138del, XM_011524818.1:c.-139_-138del, XM_011524818.1:c.-138del, XM_011524818.1:c.-138dup, XM_011524818.1:c.-139_-138dup, XM_011524818.1:c.-140_-138dup

Select item 149106039516.

rs1491060395 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 17:43657008 (GRCh38)
17:41734377 (GRCh37)
Canonical SPDI:: NC_000017.11:43657008:TTT:TTTT,NC_000017.11:43657008:TTT:TTTTT
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TT=0.00023/21 (GnomAD)
HGVS:: NC_000017.11:g.43657011dup, NC_000017.11:g.43657010_43657011dup, NC_000017.10:g.41734379dup, NC_000017.10:g.41734378_41734379dup, NG_032987.1:g.9886dup, NG_032987.1:g.9885_9886dup

Select item 149099891517.

rs1490998915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:43656807 (GRCh38)
17:41734175 (GRCh37)
Canonical SPDI:: NC_000017.11:43656806:C:A
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.43656807C>A, NC_000017.10:g.41734175C>A, NG_032987.1:g.10088G>T

Select item 149097174018.

rs1490971740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:43643249 (GRCh38)
17:41720617 (GRCh37)
Canonical SPDI:: NC_000017.11:43643248:T:C,NC_000017.11:43643248:T:G
Gene:: MEOX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.002183/4 (Korea1K)
HGVS:: NC_000017.11:g.43643249T>C, NC_000017.11:g.43643249T>G, NC_000017.10:g.41720617T>C, NC_000017.10:g.41720617T>G, NG_032987.1:g.23646A>G, NG_032987.1:g.23646A>C

Select item 149090153619.

rs1490901536 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 149082358820.

rs1490823588 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

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