SNP Links for Gene (Select 9735) - SNP

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Select item 14915839671.

rs1491583967 has merged into rs60404988 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 12:122554093 (GRCh38)
12:123038640 (GRCh37)
Canonical SPDI:: NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:122554076:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.122554077AT[8], NC_000012.12:g.122554077AT[9], NC_000012.12:g.122554077AT[10], NC_000012.12:g.122554077AT[11], NC_000012.12:g.122554077AT[13], NC_000012.12:g.122554077AT[14], NC_000012.12:g.122554077AT[15], NC_000012.12:g.122554077AT[16], NC_000012.12:g.122554077AT[17], NC_000012.12:g.122554077AT[18], NC_000012.12:g.122554077AT[19], NC_000012.12:g.122554077AT[20], NC_000012.12:g.122554077AT[21], NC_000012.12:g.122554077AT[22], NC_000012.12:g.122554077AT[23], NC_000012.12:g.122554077AT[24], NC_000012.12:g.122554077AT[25], NC_000012.12:g.122554077AT[26], NC_000012.12:g.122554077AT[27], NC_000012.12:g.122554077AT[29], NC_000012.12:g.122554077AT[30], NC_000012.11:g.123038624AT[8], NC_000012.11:g.123038624AT[9], NC_000012.11:g.123038624AT[10], NC_000012.11:g.123038624AT[11], NC_000012.11:g.123038624AT[13], NC_000012.11:g.123038624AT[14], NC_000012.11:g.123038624AT[15], NC_000012.11:g.123038624AT[16], NC_000012.11:g.123038624AT[17], NC_000012.11:g.123038624AT[18], NC_000012.11:g.123038624AT[19], NC_000012.11:g.123038624AT[20], NC_000012.11:g.123038624AT[21], NC_000012.11:g.123038624AT[22], NC_000012.11:g.123038624AT[23], NC_000012.11:g.123038624AT[24], NC_000012.11:g.123038624AT[25], NC_000012.11:g.123038624AT[26], NC_000012.11:g.123038624AT[27], NC_000012.11:g.123038624AT[29], NC_000012.11:g.123038624AT[30], NG_046952.1:g.31829AT[8], NG_046952.1:g.31829AT[9], NG_046952.1:g.31829AT[10], NG_046952.1:g.31829AT[11], NG_046952.1:g.31829AT[13], NG_046952.1:g.31829AT[14], NG_046952.1:g.31829AT[15], NG_046952.1:g.31829AT[16], NG_046952.1:g.31829AT[17], NG_046952.1:g.31829AT[18], NG_046952.1:g.31829AT[19], NG_046952.1:g.31829AT[20], NG_046952.1:g.31829AT[21], NG_046952.1:g.31829AT[22], NG_046952.1:g.31829AT[23], NG_046952.1:g.31829AT[24], NG_046952.1:g.31829AT[25], NG_046952.1:g.31829AT[26], NG_046952.1:g.31829AT[27], NG_046952.1:g.31829AT[29], NG_046952.1:g.31829AT[30]

Select item 14915206662.

rs1491520666 has merged into rs60788698 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 12:122565526 (GRCh38)
12:123050073 (GRCh37)
Canonical SPDI:: NC_000012.12:122565515:TTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:122565515:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:122565515:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:122565515:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.31889/1597 (1000Genomes)
-=0.319672/84614 (TOPMED)
-=0.35/14 (GENOME_DK)
-=0.36/216 (NorthernSweden)
-=0.374749/374 (GoNL)
HGVS:: NC_000012.12:g.122565526_122565527del, NC_000012.12:g.122565527del, NC_000012.12:g.122565527dup, NC_000012.12:g.122565526_122565527dup, NC_000012.11:g.123050073_123050074del, NC_000012.11:g.123050074del, NC_000012.11:g.123050074dup, NC_000012.11:g.123050073_123050074dup, NG_046952.1:g.43278_43279del, NG_046952.1:g.43279del, NG_046952.1:g.43279dup, NG_046952.1:g.43278_43279dup

Select item 14914242223.

rs1491424222 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:122556918 (GRCh38)
12:123041466 (GRCh37)
Canonical SPDI:: NC_000012.12:122556918::G
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122556918_122556919insG, NC_000012.11:g.123041465_123041466insG, NG_046952.1:g.34670_34671insG

Select item 14914054644.

rs1491405464 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 12:122598422 (GRCh38)
12:123082970 (GRCh37)
Canonical SPDI:: NC_000012.12:122598422:TTT:TTTCTTT
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.00175/15 (GnomAD)
HGVS:: NC_000012.12:g.122598425_122598426insCTTT, NC_000012.11:g.123082972_123082973insCTTT, NG_046952.1:g.76177_76178insCTTT

Select item 14913983895.

rs1491398389 has merged into rs11395342 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:122598428 (GRCh38)
12:123082975 (GRCh37)
Canonical SPDI:: NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122598421:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.122598428_122598438del, NC_000012.12:g.122598432_122598438del, NC_000012.12:g.122598433_122598438del, NC_000012.12:g.122598434_122598438del, NC_000012.12:g.122598435_122598438del, NC_000012.12:g.122598436_122598438del, NC_000012.12:g.122598437_122598438del, NC_000012.12:g.122598438del, NC_000012.12:g.122598438dup, NC_000012.12:g.122598437_122598438dup, NC_000012.12:g.122598436_122598438dup, NC_000012.12:g.122598435_122598438dup, NC_000012.12:g.122598434_122598438dup, NC_000012.12:g.122598433_122598438dup, NC_000012.12:g.122598432_122598438dup, NC_000012.12:g.122598431_122598438dup, NC_000012.12:g.122598430_122598438dup, NC_000012.12:g.122598429_122598438dup, NC_000012.12:g.122598428_122598438dup, NC_000012.12:g.122598427_122598438dup, NC_000012.12:g.122598426_122598438dup, NC_000012.12:g.122598425_122598438dup, NC_000012.12:g.122598424_122598438dup, NC_000012.12:g.122598423_122598438dup, NC_000012.12:g.122598422_122598438dup, NC_000012.12:g.122598438_122598439insTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.122598438_122598439insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.122598438_122598439insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.122598438_122598439insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.123082975_123082985del, NC_000012.11:g.123082979_123082985del, NC_000012.11:g.123082980_123082985del, NC_000012.11:g.123082981_123082985del, NC_000012.11:g.123082982_123082985del, NC_000012.11:g.123082983_123082985del, NC_000012.11:g.123082984_123082985del, NC_000012.11:g.123082985del, NC_000012.11:g.123082985dup, NC_000012.11:g.123082984_123082985dup, NC_000012.11:g.123082983_123082985dup, NC_000012.11:g.123082982_123082985dup, NC_000012.11:g.123082981_123082985dup, NC_000012.11:g.123082980_123082985dup, NC_000012.11:g.123082979_123082985dup, NC_000012.11:g.123082978_123082985dup, NC_000012.11:g.123082977_123082985dup, NC_000012.11:g.123082976_123082985dup, NC_000012.11:g.123082975_123082985dup, NC_000012.11:g.123082974_123082985dup, NC_000012.11:g.123082973_123082985dup, NC_000012.11:g.123082972_123082985dup, NC_000012.11:g.123082971_123082985dup, NC_000012.11:g.123082970_123082985dup, NC_000012.11:g.123082969_123082985dup, NC_000012.11:g.123082985_123082986insTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.123082985_123082986insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.123082985_123082986insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.123082985_123082986insTTTTTTTTTTTTTTTTTTTTTTT, NG_046952.1:g.76180_76190del, NG_046952.1:g.76184_76190del, NG_046952.1:g.76185_76190del, NG_046952.1:g.76186_76190del, NG_046952.1:g.76187_76190del, NG_046952.1:g.76188_76190del, NG_046952.1:g.76189_76190del, NG_046952.1:g.76190del, NG_046952.1:g.76190dup, NG_046952.1:g.76189_76190dup, NG_046952.1:g.76188_76190dup, NG_046952.1:g.76187_76190dup, NG_046952.1:g.76186_76190dup, NG_046952.1:g.76185_76190dup, NG_046952.1:g.76184_76190dup, NG_046952.1:g.76183_76190dup, NG_046952.1:g.76182_76190dup, NG_046952.1:g.76181_76190dup, NG_046952.1:g.76180_76190dup, NG_046952.1:g.76179_76190dup, NG_046952.1:g.76178_76190dup, NG_046952.1:g.76177_76190dup, NG_046952.1:g.76176_76190dup, NG_046952.1:g.76175_76190dup, NG_046952.1:g.76174_76190dup, NG_046952.1:g.76190_76191insTTTTTTTTTTTTTTTTTTTT, NG_046952.1:g.76190_76191insTTTTTTTTTTTTTTTTTTTTT, NG_046952.1:g.76190_76191insTTTTTTTTTTTTTTTTTTTTTT, NG_046952.1:g.76190_76191insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912756556.

rs1491275655 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 12:122554077 (GRCh38)
12:123038625 (GRCh37)
Canonical SPDI:: NC_000012.12:122554077:T:TGT
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000012.12:g.122554078_122554079insGT, NC_000012.11:g.123038625_123038626insGT, NG_046952.1:g.31830_31831insGT

Select item 14912660707.

rs1491266070 has merged into rs35303600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:122539799 (GRCh38)
12:123024346 (GRCh37)
Canonical SPDI:: NC_000012.12:122539785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:122539785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:122539785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:122539785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:122539785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:122539785:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.15333/92 (NorthernSweden)
T=0.275/11 (GENOME_DK)
HGVS:: NC_000012.12:g.122539799_122539801del, NC_000012.12:g.122539800_122539801del, NC_000012.12:g.122539801del, NC_000012.12:g.122539801dup, NC_000012.12:g.122539800_122539801dup, NC_000012.12:g.122539799_122539801dup, NC_000012.11:g.123024346_123024348del, NC_000012.11:g.123024347_123024348del, NC_000012.11:g.123024348del, NC_000012.11:g.123024348dup, NC_000012.11:g.123024347_123024348dup, NC_000012.11:g.123024346_123024348dup, NG_046952.1:g.17551_17553del, NG_046952.1:g.17552_17553del, NG_046952.1:g.17553del, NG_046952.1:g.17553dup, NG_046952.1:g.17552_17553dup, NG_046952.1:g.17551_17553dup

Select item 14911639788.

rs1491163978 has merged into rs370531688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:122603283 (GRCh38)
12:123087830 (GRCh37)
Canonical SPDI:: NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:122603272:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.122603283_122603287del, NC_000012.12:g.122603285_122603287del, NC_000012.12:g.122603286_122603287del, NC_000012.12:g.122603287del, NC_000012.12:g.122603287dup, NC_000012.12:g.122603286_122603287dup, NC_000012.12:g.122603285_122603287dup, NC_000012.12:g.122603280_122603287dup, NC_000012.11:g.123087830_123087834del, NC_000012.11:g.123087832_123087834del, NC_000012.11:g.123087833_123087834del, NC_000012.11:g.123087834del, NC_000012.11:g.123087834dup, NC_000012.11:g.123087833_123087834dup, NC_000012.11:g.123087832_123087834dup, NC_000012.11:g.123087827_123087834dup, NG_046952.1:g.81035_81039del, NG_046952.1:g.81037_81039del, NG_046952.1:g.81038_81039del, NG_046952.1:g.81039del, NG_046952.1:g.81039dup, NG_046952.1:g.81038_81039dup, NG_046952.1:g.81037_81039dup, NG_046952.1:g.81032_81039dup

Select item 14911598049.

rs1491159804 has merged into rs35101646 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:122556927 (GRCh38)
12:123041474 (GRCh37)
Canonical SPDI:: NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:122556917:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.2456/1230 (1000Genomes)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000012.12:g.122556927_122556940del, NC_000012.12:g.122556928_122556940del, NC_000012.12:g.122556931_122556940del, NC_000012.12:g.122556933_122556940del, NC_000012.12:g.122556934_122556940del, NC_000012.12:g.122556935_122556940del, NC_000012.12:g.122556936_122556940del, NC_000012.12:g.122556937_122556940del, NC_000012.12:g.122556938_122556940del, NC_000012.12:g.122556939_122556940del, NC_000012.12:g.122556940del, NC_000012.12:g.122556940dup, NC_000012.12:g.122556939_122556940dup, NC_000012.12:g.122556938_122556940dup, NC_000012.12:g.122556937_122556940dup, NC_000012.12:g.122556936_122556940dup, NC_000012.12:g.122556935_122556940dup, NC_000012.12:g.122556934_122556940dup, NC_000012.11:g.123041474_123041487del, NC_000012.11:g.123041475_123041487del, NC_000012.11:g.123041478_123041487del, NC_000012.11:g.123041480_123041487del, NC_000012.11:g.123041481_123041487del, NC_000012.11:g.123041482_123041487del, NC_000012.11:g.123041483_123041487del, NC_000012.11:g.123041484_123041487del, NC_000012.11:g.123041485_123041487del, NC_000012.11:g.123041486_123041487del, NC_000012.11:g.123041487del, NC_000012.11:g.123041487dup, NC_000012.11:g.123041486_123041487dup, NC_000012.11:g.123041485_123041487dup, NC_000012.11:g.123041484_123041487dup, NC_000012.11:g.123041483_123041487dup, NC_000012.11:g.123041482_123041487dup, NC_000012.11:g.123041481_123041487dup, NG_046952.1:g.34679_34692del, NG_046952.1:g.34680_34692del, NG_046952.1:g.34683_34692del, NG_046952.1:g.34685_34692del, NG_046952.1:g.34686_34692del, NG_046952.1:g.34687_34692del, NG_046952.1:g.34688_34692del, NG_046952.1:g.34689_34692del, NG_046952.1:g.34690_34692del, NG_046952.1:g.34691_34692del, NG_046952.1:g.34692del, NG_046952.1:g.34692dup, NG_046952.1:g.34691_34692dup, NG_046952.1:g.34690_34692dup, NG_046952.1:g.34689_34692dup, NG_046952.1:g.34688_34692dup, NG_046952.1:g.34687_34692dup, NG_046952.1:g.34686_34692dup

Select item 149113896610.

rs1491138966 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 12:122559477 (GRCh38)
12:123044024 (GRCh37)
Canonical SPDI:: NC_000012.12:122559476:TG:
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122559477_122559478del, NC_000012.11:g.123044024_123044025del, NG_046952.1:g.37229_37230del

Select item 149098095711.

rs1490980957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:122532359 (GRCh38)
12:123016906 (GRCh37)
Canonical SPDI:: NC_000012.12:122532358:C:A
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122532359C>A, NC_000012.11:g.123016906C>A, NG_046952.1:g.10111C>A

Select item 149096950412.

rs1490969504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122570510 (GRCh38)
12:123055057 (GRCh37)
Canonical SPDI:: NC_000012.12:122570509:C:T
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.122570510C>T, NC_000012.11:g.123055057C>T, NG_046952.1:g.48262C>T

Select item 149092618913.

rs1490926189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122586637 (GRCh38)
12:123071184 (GRCh37)
Canonical SPDI:: NC_000012.12:122586636:G:A
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122586637G>A, NC_000012.11:g.123071184G>A, NG_046952.1:g.64389G>A

Select item 149092198614.

rs1490921986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122527524 (GRCh38)
12:123012071 (GRCh37)
Canonical SPDI:: NC_000012.12:122527523:A:G
Gene:: KNTC1 (Varview), RSRC2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122527524A>G, NC_000012.11:g.123012071A>G, NG_046952.1:g.5276A>G

Select item 149091969115.

rs1490919691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:122614976 (GRCh38)
12:123099523 (GRCh37)
Canonical SPDI:: NC_000012.12:122614975:T:G
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122614976T>G, NC_000012.11:g.123099523T>G, NG_046952.1:g.92728T>G

Select item 149085692816.

rs1490856928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:122601324 (GRCh38)
12:123085871 (GRCh37)
Canonical SPDI:: NC_000012.12:122601323:A:T
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122601324A>T, NC_000012.11:g.123085871A>T, NG_046952.1:g.79076A>T

Select item 149084903517.

rs1490849035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:122616105 (GRCh38)
12:123100652 (GRCh37)
Canonical SPDI:: NC_000012.12:122616104:T:C
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122616105T>C, NC_000012.11:g.123100652T>C, NG_046952.1:g.93857T>C

Select item 149084103518.

rs1490841035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122526097 (GRCh38)
12:123010644 (GRCh37)
Canonical SPDI:: NC_000012.12:122526096:C:T
Gene:: KNTC1 (Varview), RSRC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.0004/2 (TOMMO)
HGVS:: NC_000012.12:g.122526097C>T, NC_000012.11:g.123010644C>T, NG_046952.1:g.3849C>T

Select item 149082582619.

rs1490825826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122562415 (GRCh38)
12:123046962 (GRCh37)
Canonical SPDI:: NC_000012.12:122562414:G:A
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.122562415G>A, NC_000012.11:g.123046962G>A, NG_046952.1:g.40167G>A

Select item 149079797320.

rs1490797973 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATGAGGAATA>- [Show Flanks]
Chromosome:: 12:122578208 (GRCh38)
12:123062755 (GRCh37)
Canonical SPDI:: NC_000012.12:122578206:AGATGAGGAATA:A
Gene:: KNTC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122578208_122578218del, NC_000012.11:g.123062755_123062765del, NG_046952.1:g.55960_55970del

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