SNP Links for Gene (Select 8564) - SNP

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Select item 14915786191.

rs1491578619 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:241555142 (GRCh38)
1:241718442 (GRCh37)
Canonical SPDI:: NC_000001.11:241555141:AA:
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.241555142_241555143del, NC_000001.10:g.241718442_241718443del

Select item 14915614112.

rs1491561411 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:241565558 (GRCh38)
1:241728858 (GRCh37)
Canonical SPDI:: NC_000001.11:241565557:TA:
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.241565558_241565559del, NC_000001.10:g.241728858_241728859del

Select item 14915339163.

rs1491533916 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:241592804 (GRCh38)
1:241756106 (GRCh37)
Canonical SPDI:: NC_000001.11:241592802:TTT:T
Gene:: KMO (Varview), OPN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000001.11:g.241592804_241592805del, NC_000001.10:g.241756106_241756107del, NM_003679.5:c.*651_*652del, NM_003679.4:c.*651_*652del, XM_005273337.2:c.*651_*652del, NM_001410944.1:c.*651_*652del

Select item 14915245374.

rs1491524537 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:241534966 (GRCh38)
1:241698266 (GRCh37)
Canonical SPDI:: NC_000001.11:241534965:GT:
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.241534966_241534967del, NC_000001.10:g.241698266_241698267del

Select item 14915239125.

rs1491523912 has merged into rs34450394 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:241571874 (GRCh38)
1:241735174 (GRCh37)
Canonical SPDI:: NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241571864:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.241571874_241571885del, NC_000001.11:g.241571875_241571885del, NC_000001.11:g.241571876_241571885del, NC_000001.11:g.241571877_241571885del, NC_000001.11:g.241571878_241571885del, NC_000001.11:g.241571879_241571885del, NC_000001.11:g.241571881_241571885del, NC_000001.11:g.241571882_241571885del, NC_000001.11:g.241571883_241571885del, NC_000001.11:g.241571884_241571885del, NC_000001.11:g.241571885del, NC_000001.11:g.241571885dup, NC_000001.11:g.241571884_241571885dup, NC_000001.11:g.241571883_241571885dup, NC_000001.11:g.241571882_241571885dup, NC_000001.11:g.241571881_241571885dup, NC_000001.11:g.241571880_241571885dup, NC_000001.11:g.241571865_241571885T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.241571879_241571885dup, NC_000001.11:g.241571878_241571885dup, NC_000001.11:g.241571876_241571885dup, NC_000001.11:g.241571875_241571885dup, NC_000001.10:g.241735174_241735185del, NC_000001.10:g.241735175_241735185del, NC_000001.10:g.241735176_241735185del, NC_000001.10:g.241735177_241735185del, NC_000001.10:g.241735178_241735185del, NC_000001.10:g.241735179_241735185del, NC_000001.10:g.241735181_241735185del, NC_000001.10:g.241735182_241735185del, NC_000001.10:g.241735183_241735185del, NC_000001.10:g.241735184_241735185del, NC_000001.10:g.241735185del, NC_000001.10:g.241735185dup, NC_000001.10:g.241735184_241735185dup, NC_000001.10:g.241735183_241735185dup, NC_000001.10:g.241735182_241735185dup, NC_000001.10:g.241735181_241735185dup, NC_000001.10:g.241735180_241735185dup, NC_000001.10:g.241735165_241735185T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.241735179_241735185dup, NC_000001.10:g.241735178_241735185dup, NC_000001.10:g.241735176_241735185dup, NC_000001.10:g.241735175_241735185dup

Select item 14915175536.

rs1491517553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:241548584 (GRCh38)
1:241711885 (GRCh37)
Canonical SPDI:: NC_000001.11:241548584:T:TT
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000018/2 (GnomAD)
HGVS:: NC_000001.11:g.241548585dup, NC_000001.10:g.241711885dup

Select item 14914262207.

rs1491426220 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:241552200 (GRCh38)
1:241715500 (GRCh37)
Canonical SPDI:: NC_000001.11:241552198:AAA:A
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00624/74 (ALFA)
-=0.00195/33 (TOMMO)
-=0.02281/1003 (GnomAD)
HGVS:: NC_000001.11:g.241552200_241552201del, NC_000001.10:g.241715500_241715501del

Select item 14912949418.

rs1491294941 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:241548584 (GRCh38)
1:241711884 (GRCh37)
Canonical SPDI:: NC_000001.11:241548583:GT:
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.241548584_241548585del, NC_000001.10:g.241711884_241711885del

Select item 14912468689.

rs1491246868 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:241571865 (GRCh38)
1:241735166 (GRCh37)
Canonical SPDI:: NC_000001.11:241571865:TTT:TTTCTTT
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.241571868_241571869insCTTT, NC_000001.10:g.241735168_241735169insCTTT

Select item 149117119710.

rs1491171197 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCGG [Show Flanks]
Chromosome:: 1:241549280 (GRCh38)
1:241712581 (GRCh37)
Canonical SPDI:: NC_000001.11:241549280:G:GTCGG
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.241549281_241549282insTCGG, NC_000001.10:g.241712581_241712582insTCGG

Select item 149114188011.

rs1491141880 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:241592803 (GRCh38)
1:241756106 (GRCh37)
Canonical SPDI:: NC_000001.11:241592803::A
Gene:: KMO (Varview), OPN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000001.11:g.241592803_241592804insA, NC_000001.10:g.241756105_241756106insA, NM_003679.5:c.*650_*651insA, NM_003679.4:c.*650_*651insA, XM_005273337.2:c.*650_*651insA, NM_001410944.1:c.*650_*651insA

Select item 149113240112.

rs1491132401 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:241549281 (GRCh38)
1:241712581 (GRCh37)
Canonical SPDI:: NC_000001.11:241549279:AGA:A
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.241549281_241549282del, NC_000001.10:g.241712581_241712582del

Select item 149111796513.

rs1491117965 has merged into rs56260608 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:241565571 (GRCh38)
1:241728871 (GRCh37)
Canonical SPDI:: NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:241565558:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.2037/1020 (1000Genomes)
HGVS:: NC_000001.11:g.241565571_241565580del, NC_000001.11:g.241565573_241565580del, NC_000001.11:g.241565574_241565580del, NC_000001.11:g.241565575_241565580del, NC_000001.11:g.241565576_241565580del, NC_000001.11:g.241565577_241565580del, NC_000001.11:g.241565578_241565580del, NC_000001.11:g.241565579_241565580del, NC_000001.11:g.241565580del, NC_000001.11:g.241565580dup, NC_000001.11:g.241565579_241565580dup, NC_000001.11:g.241565577_241565580dup, NC_000001.10:g.241728871_241728880del, NC_000001.10:g.241728873_241728880del, NC_000001.10:g.241728874_241728880del, NC_000001.10:g.241728875_241728880del, NC_000001.10:g.241728876_241728880del, NC_000001.10:g.241728877_241728880del, NC_000001.10:g.241728878_241728880del, NC_000001.10:g.241728879_241728880del, NC_000001.10:g.241728880del, NC_000001.10:g.241728880dup, NC_000001.10:g.241728879_241728880dup, NC_000001.10:g.241728877_241728880dup

Select item 149110739614.

rs1491107396 has merged into rs201213541 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 1:241534967 (GRCh38)
1:241698267 (GRCh37)
Canonical SPDI:: NC_000001.11:241534966:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:241534966:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:241534966:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.008893/2354 (TOPMED)
-=0.041082/41 (GoNL)
-=0.065614/1090 (TOMMO)
-=0.093509/170 (Korea1K)
HGVS:: NC_000001.11:g.241534977del, NC_000001.11:g.241534977dup, NC_000001.11:g.241534976_241534977dup, NC_000001.10:g.241698277del, NC_000001.10:g.241698277dup, NC_000001.10:g.241698276_241698277dup

Select item 149109595615.

rs1491095956 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:241547387 (GRCh38)
1:241710688 (GRCh37)
Canonical SPDI:: NC_000001.11:241547387::T
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.241547387_241547388insT, NC_000001.10:g.241710687_241710688insT

Select item 149107109916.

rs1491071099 has merged into rs76516540 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 1:241589264 (GRCh38)
1:241752566 (GRCh37)
Canonical SPDI:: NC_000001.11:241589256:AAAAAAAAA:AAAAAAA,NC_000001.11:241589256:AAAAAAAAA:AAAAAAAA,NC_000001.11:241589256:AAAAAAAAA:AAAAAAAAAA
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.07642/140 (Korea1K)
-=0.14167/85 (NorthernSweden)
-=0.16302/730 (Estonian)
-=0.17099/659 (ALSPAC)
-=0.175/7 (GENOME_DK)
-=0.17665/655 (TWINSUK)
-=0.17737/878 (1000Genomes)
-=0.18537/185 (GoNL)
HGVS:: NC_000001.11:g.241589264_241589265del, NC_000001.11:g.241589265del, NC_000001.11:g.241589265dup, NC_000001.10:g.241752566_241752567del, NC_000001.10:g.241752567del, NC_000001.10:g.241752567dup

Select item 149106469217.

rs1491064692 has merged into rs386370217 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:241586203 (GRCh38)
1:241749505 (GRCh37)
Canonical SPDI:: NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:241586191:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.241586203_241586216del, NC_000001.11:g.241586204_241586216del, NC_000001.11:g.241586205_241586216del, NC_000001.11:g.241586206_241586216del, NC_000001.11:g.241586207_241586216del, NC_000001.11:g.241586208_241586216del, NC_000001.11:g.241586209_241586216del, NC_000001.11:g.241586210_241586216del, NC_000001.11:g.241586211_241586216del, NC_000001.11:g.241586212_241586216del, NC_000001.11:g.241586213_241586216del, NC_000001.11:g.241586214_241586216del, NC_000001.11:g.241586215_241586216del, NC_000001.11:g.241586216del, NC_000001.11:g.241586216dup, NC_000001.11:g.241586215_241586216dup, NC_000001.11:g.241586214_241586216dup, NC_000001.11:g.241586213_241586216dup, NC_000001.11:g.241586212_241586216dup, NC_000001.11:g.241586211_241586216dup, NC_000001.11:g.241586210_241586216dup, NC_000001.11:g.241586209_241586216dup, NC_000001.11:g.241586208_241586216dup, NC_000001.11:g.241586207_241586216dup, NC_000001.11:g.241586206_241586216dup, NC_000001.11:g.241586216_241586217insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.241749505_241749518del, NC_000001.10:g.241749506_241749518del, NC_000001.10:g.241749507_241749518del, NC_000001.10:g.241749508_241749518del, NC_000001.10:g.241749509_241749518del, NC_000001.10:g.241749510_241749518del, NC_000001.10:g.241749511_241749518del, NC_000001.10:g.241749512_241749518del, NC_000001.10:g.241749513_241749518del, NC_000001.10:g.241749514_241749518del, NC_000001.10:g.241749515_241749518del, NC_000001.10:g.241749516_241749518del, NC_000001.10:g.241749517_241749518del, NC_000001.10:g.241749518del, NC_000001.10:g.241749518dup, NC_000001.10:g.241749517_241749518dup, NC_000001.10:g.241749516_241749518dup, NC_000001.10:g.241749515_241749518dup, NC_000001.10:g.241749514_241749518dup, NC_000001.10:g.241749513_241749518dup, NC_000001.10:g.241749512_241749518dup, NC_000001.10:g.241749511_241749518dup, NC_000001.10:g.241749510_241749518dup, NC_000001.10:g.241749509_241749518dup, NC_000001.10:g.241749508_241749518dup, NC_000001.10:g.241749518_241749519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149105166318.

rs1491051663 has merged into rs11409165 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:241587762 (GRCh38)
1:241751064 (GRCh37)
Canonical SPDI:: NC_000001.11:241587751:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:241587751:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:241587751:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:241587751:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:241587751:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.2/8 (GENOME_DK)
T=0.20108/1007 (1000Genomes)
HGVS:: NC_000001.11:g.241587762_241587763del, NC_000001.11:g.241587763del, NC_000001.11:g.241587763dup, NC_000001.11:g.241587762_241587763dup, NC_000001.11:g.241587761_241587763dup, NC_000001.10:g.241751064_241751065del, NC_000001.10:g.241751065del, NC_000001.10:g.241751065dup, NC_000001.10:g.241751064_241751065dup, NC_000001.10:g.241751063_241751065dup

Select item 149104488219.

rs1491044882 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAG,AAAGAAAG [Show Flanks]
Chromosome:: 1:241549197 (GRCh38)
1:241712498 (GRCh37)
Canonical SPDI:: NC_000001.11:241549197:AAAG:AAAGAAAG,NC_000001.11:241549197:AAAG:AAAGAAAGAAAG
Gene:: KMO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAGAAAG=0./0 (ALFA)
HGVS:: NC_000001.11:g.241549198_241549201dup, NC_000001.11:g.241549198AAAG[3], NC_000001.10:g.241712498_241712501dup, NC_000001.10:g.241712498AAAG[3]

Select item 149092507020.

rs1490925070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:241568537 (GRCh38)
1:241731837 (GRCh37)
Canonical SPDI:: NC_000001.11:241568536:C:A,NC_000001.11:241568536:C:T
Gene:: KMO (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.241568537C>A, NC_000001.11:g.241568537C>T, NC_000001.10:g.241731837C>A, NC_000001.10:g.241731837C>T, NM_003679.5:c.847C>A, NM_003679.5:c.847C>T, NM_003679.4:c.847C>A, NM_003679.4:c.847C>T, XM_005273337.2:c.847C>A, XM_005273337.2:c.847C>T, NM_001410944.1:c.847C>A, NM_001410944.1:c.847C>T, NP_003670.2:p.Gln283Lys, NP_003670.2:p.Gln283Ter, XP_005273394.2:p.Gln283Lys, XP_005273394.2:p.Gln283Ter

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