SNP Links for Nucleotide (Select 209447065) - SNP

Links from Nucleotide

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Select item 14915838141.

rs1491583814 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:70996792 (GRCh38)
5:70292619 (GRCh37)
Canonical SPDI:: NC_000005.10:70996791:CA:
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.70996792_70996793del, NC_000005.9:g.70292619_70292620del, NG_008724.1:g.33322_33323del, NW_003315917.2:g.414037_414038del

Select item 14914179742.

rs1491417974 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:69610008 (GRCh38)
5:68905835 (GRCh37)
Canonical SPDI:: NC_000005.10:69610007:TA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.13708/1626 (ALFA)
-=0.15743/1312 (TOMMO)
HGVS:: NC_000005.10:g.69610008_69610009del, NC_000005.9:g.68905835_68905836del, NW_003315917.2:g.392980A>T, NW_003315917.2:g.392997_392998del, NG_008724.1:g.12250A>T, NG_008724.1:g.12267_12268del, NT_187651.1:g.566246T>A, NT_187651.1:g.566246_566247del, NG_006114.5:g.5782A>T, NG_006114.5:g.5799_5800del, NW_025791777.1:g.276729dup, NW_025791777.1:g.276747del

Select item 14914079293.

rs1491407929 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,ATA,ATATA [Show Flanks]
Chromosome:: 5:70978150 (GRCh38)
5:70273978 (GRCh37)
Canonical SPDI:: NC_000005.10:70978150::A,NC_000005.10:70978150::AA,NC_000005.10:70978150::ATA,NC_000005.10:70978150::ATATA
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00078/20 (GnomAD)
A=0.00117/11 (TOMMO)
HGVS:: NC_000005.10:g.70978150_70978151insA, NC_000005.10:g.70978150_70978151insAA, NC_000005.10:g.70978150_70978151insATA, NC_000005.10:g.70978150_70978151insATATA, NC_000005.9:g.70273977_70273978insA, NC_000005.9:g.70273977_70273978insAA, NC_000005.9:g.70273977_70273978insATA, NC_000005.9:g.70273977_70273978insATATA, NG_008724.1:g.51964_51965insT, NG_008724.1:g.51964_51965insTT, NG_008724.1:g.51964_51965insTAT, NG_008724.1:g.51964_51965insTATAT, NW_003315917.2:g.432679_432680insT, NW_003315917.2:g.432679_432680insTT, NW_003315917.2:g.432679_432680insTAT, NW_003315917.2:g.432679_432680insTATAT, NT_187651.1:g.526541_526542insA, NT_187651.1:g.526541_526542insAA, NT_187651.1:g.526541_526542insATA, NT_187651.1:g.526541_526542insATATA, NW_025791777.1:g.1503959_1503960insT, NW_025791777.1:g.1503959_1503960insTT, NW_025791777.1:g.1503959_1503960insTAT, NW_025791777.1:g.1503959_1503960insTATAT

Select item 14913223314.

rs1491322331 has merged into rs1185904838 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:70979585 (GRCh38)
5:70275412 (GRCh37)
Canonical SPDI:: NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70979572:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0075/3 (Korea1K)
HGVS:: NC_000005.10:g.70979585_70979586del, NC_000005.10:g.70979586del, NC_000005.10:g.70979586dup, NC_000005.10:g.70979585_70979586dup, NC_000005.10:g.70979584_70979586dup, NC_000005.10:g.70979583_70979586dup, NC_000005.10:g.70979582_70979586dup, NC_000005.10:g.70979581_70979586dup, NC_000005.10:g.70979576_70979586dup, NC_000005.10:g.70979575_70979586dup, NC_000005.9:g.70275412_70275413del, NC_000005.9:g.70275413del, NC_000005.9:g.70275413dup, NC_000005.9:g.70275412_70275413dup, NC_000005.9:g.70275411_70275413dup, NC_000005.9:g.70275410_70275413dup, NC_000005.9:g.70275409_70275413dup, NC_000005.9:g.70275408_70275413dup, NC_000005.9:g.70275403_70275413dup, NC_000005.9:g.70275402_70275413dup, NG_008724.1:g.50541_50542del, NG_008724.1:g.50542del, NG_008724.1:g.50542dup, NG_008724.1:g.50541_50542dup, NG_008724.1:g.50540_50542dup, NG_008724.1:g.50539_50542dup, NG_008724.1:g.50538_50542dup, NG_008724.1:g.50537_50542dup, NG_008724.1:g.50532_50542dup, NG_008724.1:g.50531_50542dup, NW_003315917.2:g.431256_431257del, NW_003315917.2:g.431257del, NW_003315917.2:g.431257dup, NW_003315917.2:g.431256_431257dup, NW_003315917.2:g.431255_431257dup, NW_003315917.2:g.431254_431257dup, NW_003315917.2:g.431253_431257dup, NW_003315917.2:g.431252_431257dup, NW_003315917.2:g.431247_431257dup, NW_003315917.2:g.431246_431257dup, NT_187651.1:g.527978_527979del, NT_187651.1:g.527979del, NT_187651.1:g.527979dup, NT_187651.1:g.527978_527979dup, NT_187651.1:g.527977_527979dup, NT_187651.1:g.527976_527979dup, NT_187651.1:g.527975_527979dup, NT_187651.1:g.527974_527979dup, NT_187651.1:g.527969_527979dup, NT_187651.1:g.527968_527979dup, NW_025791777.1:g.1502536_1502537del, NW_025791777.1:g.1502537del, NW_025791777.1:g.1502537dup, NW_025791777.1:g.1502536_1502537dup, NW_025791777.1:g.1502535_1502537dup, NW_025791777.1:g.1502534_1502537dup, NW_025791777.1:g.1502533_1502537dup, NW_025791777.1:g.1502532_1502537dup, NW_025791777.1:g.1502527_1502537dup, NW_025791777.1:g.1502526_1502537dup

Select item 14913200075.

rs1491320007 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:70979572 (GRCh38)
5:70275399 (GRCh37)
Canonical SPDI:: NC_000005.10:70979571:CA:
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000005.10:g.70979572_70979573del, NC_000005.9:g.70275399_70275400del, NG_008724.1:g.50542_50543del, NW_003315917.2:g.431257_431258del

Select item 14912795946.

rs1491279594 has merged into rs71223138 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 5:70978163 (GRCh38)
5:70273990 (GRCh37)
Canonical SPDI:: NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:70978149:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.70978163_70978169del, NC_000005.10:g.70978164_70978169del, NC_000005.10:g.70978165_70978169del, NC_000005.10:g.70978166_70978169del, NC_000005.10:g.70978167_70978169del, NC_000005.10:g.70978168_70978169del, NC_000005.10:g.70978169del, NC_000005.10:g.70978169dup, NC_000005.10:g.70978168_70978169dup, NC_000005.10:g.70978167_70978169dup, NC_000005.10:g.70978166_70978169dup, NC_000005.9:g.70273990_70273996del, NC_000005.9:g.70273991_70273996del, NC_000005.9:g.70273992_70273996del, NC_000005.9:g.70273993_70273996del, NC_000005.9:g.70273994_70273996del, NC_000005.9:g.70273995_70273996del, NC_000005.9:g.70273996del, NC_000005.9:g.70273996dup, NC_000005.9:g.70273995_70273996dup, NC_000005.9:g.70273994_70273996dup, NC_000005.9:g.70273993_70273996dup, NG_008724.1:g.51959_51965del, NG_008724.1:g.51960_51965del, NG_008724.1:g.51961_51965del, NG_008724.1:g.51962_51965del, NG_008724.1:g.51963_51965del, NG_008724.1:g.51964_51965del, NG_008724.1:g.51965del, NG_008724.1:g.51965dup, NG_008724.1:g.51964_51965dup, NG_008724.1:g.51963_51965dup, NG_008724.1:g.51962_51965dup, NW_003315917.2:g.432674_432680del, NW_003315917.2:g.432675_432680del, NW_003315917.2:g.432676_432680del, NW_003315917.2:g.432677_432680del, NW_003315917.2:g.432678_432680del, NW_003315917.2:g.432679_432680del, NW_003315917.2:g.432680del, NW_003315917.2:g.432680dup, NW_003315917.2:g.432679_432680dup, NW_003315917.2:g.432678_432680dup, NW_003315917.2:g.432677_432680dup, NT_187651.1:g.526554_526560del, NT_187651.1:g.526555_526560del, NT_187651.1:g.526556_526560del, NT_187651.1:g.526557_526560del, NT_187651.1:g.526558_526560del, NT_187651.1:g.526559_526560del, NT_187651.1:g.526560del, NT_187651.1:g.526560dup, NT_187651.1:g.526559_526560dup, NT_187651.1:g.526558_526560dup, NT_187651.1:g.526557_526560dup, NW_025791777.1:g.1503956_1503962del, NW_025791777.1:g.1503957_1503962del, NW_025791777.1:g.1503958_1503962del, NW_025791777.1:g.1503959_1503962del, NW_025791777.1:g.1503960_1503962del, NW_025791777.1:g.1503961_1503962del, NW_025791777.1:g.1503962del, NW_025791777.1:g.1503962dup, NW_025791777.1:g.1503961_1503962dup, NW_025791777.1:g.1503960_1503962dup, NW_025791777.1:g.1503959_1503962dup

Select item 14912099627.

rs1491209962 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 5:70978109 (GRCh38)
5:70273936 (GRCh37)
Canonical SPDI:: NC_000005.10:70978108:GC:
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.70978109_70978110del, NC_000005.9:g.70273936_70273937del, NG_008724.1:g.52005_52006del, NW_003315917.2:g.432712_432713del, NT_187651.1:g.526506_526507del, NW_025791777.1:g.1503994_1503995del

Select item 14911667818.

rs1491166781 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC,GCACAC [Show Flanks]
Chromosome:: 5:70978109 (GRCh38)
5:70273937 (GRCh37)
Canonical SPDI:: NC_000005.10:70978109:C:CGCAC,NC_000005.10:70978109:C:CGCACAC
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGCACAC=0./0 (ALFA)
CGCA=0.00005/1 (GnomAD)
HGVS:: NC_000005.10:g.70978110_70978111insGCAC, NC_000005.10:g.70978110_70978111insGCACAC, NC_000005.9:g.70273937_70273938insGCAC, NC_000005.9:g.70273937_70273938insGCACAC, NG_008724.1:g.52005_52006insTGCG, NG_008724.1:g.52005GT[2]GCG[1], NW_003315917.2:g.432712_432713insTGCG, NW_003315917.2:g.432712GT[2]GCG[1], NT_187651.1:g.526507_526508insGCAC, NT_187651.1:g.526507_526508insGCACAC, NW_025791777.1:g.1503994_1503995insTGCG, NW_025791777.1:g.1503994GT[2]GCG[1]

Select item 14911169909.

rs1491116990 has merged into rs1222506915 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:70996802 (GRCh38)
5:70292629 (GRCh37)
Canonical SPDI:: NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70996792:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00172/1 (NorthernSweden)
HGVS:: NC_000005.10:g.70996802_70996813del, NC_000005.10:g.70996804_70996813del, NC_000005.10:g.70996805_70996813del, NC_000005.10:g.70996806_70996813del, NC_000005.10:g.70996807_70996813del, NC_000005.10:g.70996808_70996813del, NC_000005.10:g.70996809_70996813del, NC_000005.10:g.70996810_70996813del, NC_000005.10:g.70996811_70996813del, NC_000005.10:g.70996812_70996813del, NC_000005.10:g.70996813del, NC_000005.10:g.70996813dup, NC_000005.10:g.70996812_70996813dup, NC_000005.10:g.70996811_70996813dup, NC_000005.10:g.70996810_70996813dup, NC_000005.9:g.70292629_70292640del, NC_000005.9:g.70292631_70292640del, NC_000005.9:g.70292632_70292640del, NC_000005.9:g.70292633_70292640del, NC_000005.9:g.70292634_70292640del, NC_000005.9:g.70292635_70292640del, NC_000005.9:g.70292636_70292640del, NC_000005.9:g.70292637_70292640del, NC_000005.9:g.70292638_70292640del, NC_000005.9:g.70292639_70292640del, NC_000005.9:g.70292640del, NC_000005.9:g.70292640dup, NC_000005.9:g.70292639_70292640dup, NC_000005.9:g.70292638_70292640dup, NC_000005.9:g.70292637_70292640dup, NG_008724.1:g.33311_33322del, NG_008724.1:g.33313_33322del, NG_008724.1:g.33314_33322del, NG_008724.1:g.33315_33322del, NG_008724.1:g.33316_33322del, NG_008724.1:g.33317_33322del, NG_008724.1:g.33318_33322del, NG_008724.1:g.33319_33322del, NG_008724.1:g.33320_33322del, NG_008724.1:g.33321_33322del, NG_008724.1:g.33322del, NG_008724.1:g.33322dup, NG_008724.1:g.33321_33322dup, NG_008724.1:g.33320_33322dup, NG_008724.1:g.33319_33322dup, NW_003315917.2:g.414026_414037del, NW_003315917.2:g.414028_414037del, NW_003315917.2:g.414029_414037del, NW_003315917.2:g.414030_414037del, NW_003315917.2:g.414031_414037del, NW_003315917.2:g.414032_414037del, NW_003315917.2:g.414033_414037del, NW_003315917.2:g.414034_414037del, NW_003315917.2:g.414035_414037del, NW_003315917.2:g.414036_414037del, NW_003315917.2:g.414037del, NW_003315917.2:g.414037dup, NW_003315917.2:g.414036_414037dup, NW_003315917.2:g.414035_414037dup, NW_003315917.2:g.414034_414037dup, NT_187651.1:g.545204_545215del, NT_187651.1:g.545206_545215del, NT_187651.1:g.545207_545215del, NT_187651.1:g.545208_545215del, NT_187651.1:g.545209_545215del, NT_187651.1:g.545210_545215del, NT_187651.1:g.545211_545215del, NT_187651.1:g.545212_545215del, NT_187651.1:g.545213_545215del, NT_187651.1:g.545214_545215del, NT_187651.1:g.545215del, NT_187651.1:g.545215dup, NT_187651.1:g.545214_545215dup, NT_187651.1:g.545213_545215dup, NT_187651.1:g.545212_545215dup, NW_025791777.1:g.1485299_1485310del, NW_025791777.1:g.1485301_1485310del, NW_025791777.1:g.1485302_1485310del, NW_025791777.1:g.1485303_1485310del, NW_025791777.1:g.1485304_1485310del, NW_025791777.1:g.1485305_1485310del, NW_025791777.1:g.1485306_1485310del, NW_025791777.1:g.1485307_1485310del, NW_025791777.1:g.1485308_1485310del, NW_025791777.1:g.1485309_1485310del, NW_025791777.1:g.1485310del, NW_025791777.1:g.1485310dup, NW_025791777.1:g.1485309_1485310dup, NW_025791777.1:g.1485308_1485310dup, NW_025791777.1:g.1485307_1485310dup

Select item 149111662810.

rs1491116628 has merged into rs1182635315 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 5:69610025 (GRCh38)
5:68905852 (GRCh37)
Canonical SPDI:: NC_000005.10:69610008:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:69610008:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:69610008:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:69610008:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:69610008:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.69610025_69610026del, NC_000005.10:g.69610026del, NC_000005.10:g.69610026dup, NC_000005.10:g.69610025_69610026dup, NC_000005.10:g.69610023_69610026dup, NC_000005.9:g.68905852_68905853del, NC_000005.9:g.68905853del, NC_000005.9:g.68905853dup, NC_000005.9:g.68905852_68905853dup, NC_000005.9:g.68905850_68905853dup, NW_003315917.2:g.392997_392998del, NW_003315917.2:g.392998del, NW_003315917.2:g.392998dup, NW_003315917.2:g.392997_392998dup, NW_003315917.2:g.392995_392998dup, NG_008724.1:g.12267_12268del, NG_008724.1:g.12268del, NG_008724.1:g.12268dup, NG_008724.1:g.12267_12268dup, NG_008724.1:g.12265_12268dup, NT_187651.1:g.566246_566247del, NT_187651.1:g.566247del, NT_187651.1:g.566247dup, NT_187651.1:g.566246_566247dup, NT_187651.1:g.566244_566247dup, NG_006114.5:g.5799_5800del, NG_006114.5:g.5800del, NG_006114.5:g.5800dup, NG_006114.5:g.5799_5800dup, NG_006114.5:g.5797_5800dup, NW_025791777.1:g.276746_276747del, NW_025791777.1:g.276747del, NW_025791777.1:g.276747dup, NW_025791777.1:g.276746_276747dup, NW_025791777.1:g.276744_276747dup

Select item 149104674511.

rs1491046745 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:71009379 (GRCh38)
5:70305206 (GRCh37)
Canonical SPDI:: NC_000005.10:71009377:AGA:A
Gene:: NAIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000103/14 (GnomAD)
HGVS:: NC_000005.10:g.71009379_71009380del, NC_000005.9:g.70305206_70305207del, NG_008724.1:g.20736_20737del, NT_187651.1:g.557761_557762del, NG_006114.5:g.8569_8570insC, NG_006114.5:g.8586del, NW_025791777.1:g.1472735_1472736del

Select item 149089078012.

rs1490890780 [Homo sapiens]

Variant type:: DEL
Alleles:: TAATAATAATAATAATAATAATAATTATTATT>- [Show Flanks]
Chromosome:: 5:71000523 (GRCh38)
5:70296350 (GRCh37)
Canonical SPDI:: NC_000005.10:71000522:TAATAATAATAATAATAATAATAATTATTATT:
Gene:: NAIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.71000523_71000554del, NC_000005.9:g.70296350_70296381del, NG_008724.1:g.29561_29592del, NW_003315917.2:g.410281delinsTATT, NW_003315917.2:g.410272_410300del, NT_187651.1:g.548925_548956del, NW_025791777.1:g.1481542_1481573del

Select item 149087269213.

rs1490872692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:70997240 (GRCh38)
5:70293067 (GRCh37)
Canonical SPDI:: NC_000005.10:70997239:G:A
Gene:: NAIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.70997240G>A, NC_000005.9:g.70293067G>A, NG_008724.1:g.32875C>T, NW_003315917.2:g.413583C>T, NT_187651.1:g.545642G>A, NW_025791777.1:g.1484856C>T

Select item 149087161614.

rs1490871616 [Homo sapiens]

Variant type:: DEL
Alleles:: TTG>- [Show Flanks]
Chromosome:: 5:70989845 (GRCh38)
5:70285672 (GRCh37)
Canonical SPDI:: NC_000005.10:70989844:TTG:
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.26016/3086 (ALFA)
-=0.13258/1259 (TOMMO)
-=0.35915/2300 (1000Genomes)
HGVS:: NC_000005.10:g.70989845_70989847del, NC_000005.9:g.70285672_70285674del, NG_008724.1:g.40268_40270del, NW_003315917.2:g.421009_421010dup, NW_003315917.2:g.420987del, NT_187651.1:g.538235_538237del

Select item 149081716315.

rs1490817163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:71013025 (GRCh38)
5:70308852 (GRCh37)
Canonical SPDI:: NC_000005.10:71013024:T:G
Gene:: NAIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000057/15 (TOPMED)
G=0.000064/9 (GnomAD)
HGVS:: NC_000005.10:g.71013025T>G, NC_000005.9:g.70308852T>G, NG_008724.1:g.17090A>C, NW_003315917.2:g.397819A>C, NT_187651.1:g.561407T>G, NW_025791777.1:g.1469089A>C

Select item 149081434916.

rs1490814349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:69601633 (GRCh38)
5:68897460 (GRCh37)
Canonical SPDI:: NC_000005.10:69601632:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.69601633A>T, NC_000005.9:g.68897460A>T, NW_003315917.2:g.384605A>T, NG_008724.1:g.3873A>T, NT_187651.1:g.574621T>A, NG_055538.1:g.5755T>A, NW_025791777.1:g.268355A>T

Select item 149078412517.

rs1490784125 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 5:70973359 (GRCh38)
5:70269186 (GRCh37)
Canonical SPDI:: NC_000005.10:70973358:CCCCC:CCCC,NC_000005.10:70973358:CCCCC:CCCCCC
Gene:: NAIP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.70973363del, NC_000005.10:g.70973363dup, NC_000005.9:g.70269190del, NC_000005.9:g.70269190dup, NG_008724.1:g.56756del, NG_008724.1:g.56756dup, NW_003315917.2:g.437462del, NW_003315917.2:g.437462dup, NT_187651.1:g.521761del, NT_187651.1:g.521761dup, NW_025791777.1:g.1508744del, NW_025791777.1:g.1508744dup

Select item 149074476218.

rs1490744762 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:71027008 (GRCh38)
5:70322835 (GRCh37)
Canonical SPDI:: NC_000005.10:71027007:A:C
Gene:: NAIP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.71027008A>C, NC_000005.9:g.70322835A>C, NG_008724.1:g.3107T>G, NG_055538.1:g.6521A>C, NW_003315917.2:g.383839T>G, NT_187651.1:g.575387A>C, NW_025791777.1:g.267589T>G

Select item 149060083019.

rs1490600830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:70977355 (GRCh38)
5:70273182 (GRCh37)
Canonical SPDI:: NC_000005.10:70977354:G:A,NC_000005.10:70977354:G:T
Gene:: NAIP (Varview), LOC112267942 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.70977355G>A, NC_000005.10:g.70977355G>T, NC_000005.9:g.70273182G>A, NC_000005.9:g.70273182G>T, NG_008724.1:g.52760C>T, NG_008724.1:g.52760C>A, NW_003315917.2:g.433466C>T, NW_003315917.2:g.433466C>A, NT_187651.1:g.525753G>A, NT_187651.1:g.525753G>T, NW_025791777.1:g.1504748C>T, NW_025791777.1:g.1504748C>A

Select item 149059112920.

rs1490591129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:69611867 (GRCh38)
5:68907694 (GRCh37)
Canonical SPDI:: NC_000005.10:69611866:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000005.10:g.69611867C>T, NC_000005.9:g.68907694C>T, NW_003315917.2:g.394841C>T, NG_008724.1:g.14111C>T, NT_187651.1:g.564385G>A, NG_006114.5:g.7641C>T, NW_025791777.1:g.278588C>T

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