SNP Links for Gene (Select 115106) - SNP

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Select item 14914656711.

rs1491465671 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:46111902 (GRCh38)
18:43691868 (GRCh37)
Canonical SPDI:: NC_000018.10:46111900:TAT:T
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
HGVS:: NC_000018.10:g.46111902_46111903del, NC_000018.9:g.43691868_43691869del, NG_041769.2:g.2332_2333del

Select item 14914599662.

rs1491459966 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:46109087 (GRCh38)
18:43689054 (GRCh37)
Canonical SPDI:: NC_000018.10:46109087::G
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.46109087_46109088insG, NC_000018.9:g.43689053_43689054insG, NG_041769.2:g.5146_5147insC

Select item 14914451963.

rs1491445196 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:46111901 (GRCh38)
18:43691868 (GRCh37)
Canonical SPDI:: NC_000018.10:46111901:A:AA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00003/4 (GnomAD)
HGVS:: NC_000018.10:g.46111902dup, NC_000018.9:g.43691868dup, NG_041769.2:g.2332dup

Select item 14914441104.

rs1491444110 [Homo sapiens]

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

Select item 14913930785.

rs1491393078 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:46112909 (GRCh38)
18:43692875 (GRCh37)
Canonical SPDI:: NC_000018.10:46112900:TATATATATA:TATATATA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.0006/1 (Korea1K)
HGVS:: NC_000018.10:g.46112901TA[4], NC_000018.9:g.43692867TA[4], NG_041769.2:g.1324TA[4]

Select item 14913439556.

rs1491343955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT,TATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATATTAT,TATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT,TATATATGGAATATATATATTCCATATTAT,TATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT [Show Flanks]
Chromosome:: 18:46112998 (GRCh38)
18:43692965 (GRCh37)
Canonical SPDI:: NC_000018.10:46112998:TAT:TATTAT,NC_000018.10:46112998:TAT:TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATATTAT,NC_000018.10:46112998:TAT:TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT,NC_000018.10:46112998:TAT:TATTATATATGGAATATATATATTCCATATTAT,NC_000018.10:46112998:TAT:TATTATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0.15014/1781 (ALFA)
HGVS:: NC_000018.10:g.46112999_46113001dup, NC_000018.10:g.46112999_46113001TATTATATATATAATATATATATTCCA[2]TAT[2], NC_000018.10:g.46112999_46113001TAT[2]ATATATA[2]TATTCCATATTATATATGGAATATATATATTCCATATTAT[1], NC_000018.10:g.46112999_46113001TAT[2]AT[2]GGAATATATATATTCCATATTAT[1], NC_000018.10:g.46112999_46113001TATTATATATGGAATATATATATTCCA[2]TAT[2], NC_000018.9:g.43692965_43692967dup, NC_000018.9:g.43692965_43692967TATTATATATATAATATATATATTCCA[2]TAT[2], NC_000018.9:g.43692965_43692967TAT[2]ATATATA[2]TATTCCATATTATATATGGAATATATATATTCCATATTAT[1], NC_000018.9:g.43692965_43692967TAT[2]AT[2]GGAATATATATATTCCATATTAT[1], NC_000018.9:g.43692965_43692967TATTATATATGGAATATATATATTCCA[2]TAT[2], NG_041769.2:g.1233_1235dup, NG_041769.2:g.1233_1235ATAATATGGAATATATATATTATATAT[2]ATA[2], NG_041769.2:g.1233_1235ATA[2]TGGAATATATATATTCCATATATAATATGGAATATATATATTATATATATAATA[1], NG_041769.2:g.1233_1235ATA[2]TGGAATATATATATTCCATATATAATA[1], NG_041769.2:g.1233_1235ATAATATGGAATATATATATTCCATAT[2]ATA[2]

Select item 14912988147.

rs1491298814 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 18:46112819 (GRCh38)
18:43692786 (GRCh37)
Canonical SPDI:: NC_000018.10:46112819:A:ACA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000018.10:g.46112820_46112821insCA, NC_000018.9:g.43692786_43692787insCA, NG_041769.2:g.1414_1415insGT

Select item 14912935618.

rs1491293561 has merged into rs36020437 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 18:46127722 (GRCh38)
18:43707688 (GRCh37)
Canonical SPDI:: NC_000018.10:46127707:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:46127707:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:46127707:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:46127707:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:46127707:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.46127722_46127724del, NC_000018.10:g.46127723_46127724del, NC_000018.10:g.46127724del, NC_000018.10:g.46127724dup, NC_000018.10:g.46127723_46127724dup, NC_000018.9:g.43707688_43707690del, NC_000018.9:g.43707689_43707690del, NC_000018.9:g.43707690del, NC_000018.9:g.43707690dup, NC_000018.9:g.43707689_43707690dup

Select item 14912930689.

rs1491293068 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:46116396 (GRCh38)
18:43696363 (GRCh37)
Canonical SPDI:: NC_000018.10:46116396:AAAAAA:AAAAAAA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.46116402dup, NC_000018.9:g.43696368dup

Select item 149126649610.

rs1491266496 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 18:46113044 (GRCh38)
18:43693010 (GRCh37)
Canonical SPDI:: NC_000018.10:46113035:ATATATATAT:ATATATAT,NC_000018.10:46113035:ATATATATAT:ATATATATATAT
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATAT=0./0 (ALFA)
-=0.00014/12 (GnomAD)
HGVS:: NC_000018.10:g.46113036AT[4], NC_000018.10:g.46113036AT[6], NC_000018.9:g.43693002AT[4], NC_000018.9:g.43693002AT[6], NG_041769.2:g.1189AT[4], NG_041769.2:g.1189AT[6]

Select item 149126615711.

rs1491266157 has merged into rs58584750 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 18:46109083 (GRCh38)
18:43689049 (GRCh37)
Canonical SPDI:: NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:46109070:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.03008/16 (NorthernSweden)
-=0.08822/340 (ALSPAC)
-=0.09844/365 (TWINSUK)
-=0.24161/1210 (1000Genomes)
HGVS:: NC_000018.10:g.46109083_46109088del, NC_000018.10:g.46109084_46109088del, NC_000018.10:g.46109085_46109088del, NC_000018.10:g.46109086_46109088del, NC_000018.10:g.46109087_46109088del, NC_000018.10:g.46109088del, NC_000018.10:g.46109088dup, NC_000018.10:g.46109087_46109088dup, NC_000018.9:g.43689049_43689054del, NC_000018.9:g.43689050_43689054del, NC_000018.9:g.43689051_43689054del, NC_000018.9:g.43689052_43689054del, NC_000018.9:g.43689053_43689054del, NC_000018.9:g.43689054del, NC_000018.9:g.43689054dup, NC_000018.9:g.43689053_43689054dup, NG_041769.2:g.5158_5163del, NG_041769.2:g.5159_5163del, NG_041769.2:g.5160_5163del, NG_041769.2:g.5161_5163del, NG_041769.2:g.5162_5163del, NG_041769.2:g.5163del, NG_041769.2:g.5163dup, NG_041769.2:g.5162_5163dup

Select item 149125139812.

rs1491251398 has merged into rs748312701 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATATATAT,ATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATTATATATAT,ATATTATATTATATATATAT [Show Flanks]
Chromosome:: 18:46113004 (GRCh38)
18:43692970 (GRCh37)
Canonical SPDI:: NC_000018.10:46112997:ATATATAT:ATATAT,NC_000018.10:46112997:ATATATAT:ATATATATAT,NC_000018.10:46112997:ATATATAT:ATATATATATAT,NC_000018.10:46112997:ATATATAT:ATATATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATATATAT,NC_000018.10:46112997:ATATATAT:ATATATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATTATATATAT,NC_000018.10:46112997:ATATATAT:ATATATATATTATATTATATATATAT
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000036/1 (TOMMO)
-=0.111111/4 (GENOME_DK)
HGVS:: NC_000018.10:g.46112998AT[3], NC_000018.10:g.46112998AT[5], NC_000018.10:g.46112998AT[6], NC_000018.10:g.46112998_46113005AT[5]GGAATATATATATTCCATATTATATATGGAATATATATATTCCATATATATAT[1], NC_000018.10:g.46112998_46113005AT[5]GGAATATATATATTCCATATTATATAT[2]AT[1], NC_000018.10:g.46112998_46113005AT[5]TATAT[2]AT[3], NC_000018.9:g.43692964AT[3], NC_000018.9:g.43692964AT[5], NC_000018.9:g.43692964AT[6], NC_000018.9:g.43692964_43692971AT[5]GGAATATATATATTCCATATTATATATGGAATATATATATTCCATATATATAT[1], NC_000018.9:g.43692964_43692971AT[5]GGAATATATATATTCCATATTATATAT[2]AT[1], NC_000018.9:g.43692964_43692971AT[5]TATAT[2]AT[3], NG_041769.2:g.1229AT[3], NG_041769.2:g.1229AT[5], NG_041769.2:g.1229AT[6], NG_041769.2:g.1229_1236AT[5]GGAATATATATATTCCATATATAATATGGAATATATATATTCCATATATATAT[1], NG_041769.2:g.1229_1236AT[4]AATATGGAATATATATATTCCATATAT[2]AT[2], NG_041769.2:g.1229_1236AT[5]AATAT[2]AT[3]

Select item 149123599313.

rs1491235993 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 18:46112901 (GRCh38)
18:43692868 (GRCh37)
Canonical SPDI:: NC_000018.10:46112901:A:ACA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.00003/3 (GnomAD)
HGVS:: NC_000018.10:g.46112902_46112903insCA, NC_000018.9:g.43692868_43692869insCA, NG_041769.2:g.1332_1333insGT

Select item 149121991514.

rs1491219915 has merged into rs35249053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 18:46115470 (GRCh38)
18:43695436 (GRCh37)
Canonical SPDI:: NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:46115458:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.46115470_46115478del, NC_000018.10:g.46115471_46115478del, NC_000018.10:g.46115472_46115478del, NC_000018.10:g.46115474_46115478del, NC_000018.10:g.46115475_46115478del, NC_000018.10:g.46115476_46115478del, NC_000018.10:g.46115477_46115478del, NC_000018.10:g.46115478del, NC_000018.10:g.46115478dup, NC_000018.10:g.46115477_46115478dup, NC_000018.9:g.43695436_43695444del, NC_000018.9:g.43695437_43695444del, NC_000018.9:g.43695438_43695444del, NC_000018.9:g.43695440_43695444del, NC_000018.9:g.43695441_43695444del, NC_000018.9:g.43695442_43695444del, NC_000018.9:g.43695443_43695444del, NC_000018.9:g.43695444del, NC_000018.9:g.43695444dup, NC_000018.9:g.43695443_43695444dup

Select item 149120504915.

rs1491205049 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:46127707 (GRCh38)
18:43707673 (GRCh37)
Canonical SPDI:: NC_000018.10:46127706:CA:
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000018.10:g.46127707_46127708del, NC_000018.9:g.43707673_43707674del

Select item 149119397816.

rs1491193978 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:46115458 (GRCh38)
18:43695424 (GRCh37)
Canonical SPDI:: NC_000018.10:46115457:CA:
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000018.10:g.46115458_46115459del, NC_000018.9:g.43695424_43695425del

Select item 149115533517.

rs1491155335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT [Show Flanks]
Chromosome:: 18:46113036 (GRCh38)
18:43693003 (GRCh37)
Canonical SPDI:: NC_000018.10:46113036:T:TGTGT
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000018.10:g.46113037_46113038insGTGT, NC_000018.9:g.43693003_43693004insGTGT, NG_041769.2:g.1197_1198insCACA

Select item 149112223718.

rs1491122237 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 18:46113076 (GRCh38)
18:43693043 (GRCh37)
Canonical SPDI:: NC_000018.10:46113076:TAT:TATTAT
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATTAT=0.00008/1 (ALFA)
HGVS:: NC_000018.10:g.46113077_46113079dup, NC_000018.9:g.43693043_43693045dup, NG_041769.2:g.1155_1157dup

Select item 149111561819.

rs1491115618 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,ATATAT [Show Flanks]
Chromosome:: 18:46112928 (GRCh38)
18:43692894 (GRCh37)
Canonical SPDI:: NC_000018.10:46112924:TATATAT:TAT,NC_000018.10:46112924:TATATAT:TATATATAT
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATAT=0.00102/12 (ALFA)
HGVS:: NC_000018.10:g.46112926AT[1], NC_000018.10:g.46112926AT[4], NC_000018.9:g.43692892AT[1], NC_000018.9:g.43692892AT[4], NG_041769.2:g.1304TA[1], NG_041769.2:g.1304TA[4]

Select item 149110900020.

rs1491109000 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:46109070 (GRCh38)
18:43689036 (GRCh37)
Canonical SPDI:: NC_000018.10:46109069:CA:
Gene:: HAUS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
-=0.0011/31 (TOMMO)
HGVS:: NC_000018.10:g.46109070_46109071del, NC_000018.9:g.43689036_43689037del, NG_041769.2:g.5163_5164del

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