SNP Links for Gene (Select 2678) - SNP

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Select item 14915193571.

rs1491519357 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:24596914 (GRCh38)
22:24992881 (GRCh37)
Canonical SPDI:: NC_000022.11:24596913:CA:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.04232/502 (ALFA)
-=0.00313/52 (TOMMO)
-=0.00379/6 (Korea1K)
HGVS:: NC_000022.11:g.24596914_24596915del, NC_000022.10:g.24992881_24992882del, NG_008111.1:g.18164_18165del

Select item 14915172412.

rs1491517241 [Homo sapiens]

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

Select item 14915021833.

rs1491502183 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 22:24605185 (GRCh38)
22:25001153 (GRCh37)
Canonical SPDI:: NC_000022.11:24605185::AA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.00008/1 (ALFA)
HGVS:: NC_000022.11:g.24605185_24605186insAA, NC_000022.10:g.25001152_25001153insAA, NG_008111.1:g.26435_26436insAA

Select item 14914707434.

rs1491470743 has merged into rs1491245838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATATTATATATATATA [Show Flanks]
Chromosome:: 22:24605944 (GRCh38)
22:25001911 (GRCh37)
Canonical SPDI:: NC_000022.11:24605938:ATATATA:ATATA,NC_000022.11:24605938:ATATATA:ATATATATA,NC_000022.11:24605938:ATATATA:ATATATATATATTATATATATATA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATA=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000022.11:g.24605940TA[2], NC_000022.11:g.24605940TA[4], NC_000022.11:g.24605939_24605945AT[6]TA[6], NC_000022.10:g.25001907TA[2], NC_000022.10:g.25001907TA[4], NC_000022.10:g.25001906_25001912AT[6]TA[6], NG_008111.1:g.27190TA[2], NG_008111.1:g.27190TA[4], NG_008111.1:g.27189_27195AT[6]TA[6]

Select item 14914371755.

rs1491437175 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24605822 (GRCh38)
22:25001789 (GRCh37)
Canonical SPDI:: NC_000022.11:24605821:TT:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00016/11 (GnomAD)
HGVS:: NC_000022.11:g.24605822_24605823del, NC_000022.10:g.25001789_25001790del, NG_008111.1:g.27072_27073del

Select item 14914365176.

rs1491436517 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:24605938 (GRCh38)
22:25001905 (GRCh37)
Canonical SPDI:: NC_000022.11:24605937:AA:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.24605938_24605939del, NC_000022.10:g.25001905_25001906del, NG_008111.1:g.27188_27189del

Select item 14913895247.

rs1491389524 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATATAT [Show Flanks]
Chromosome:: 22:24605822 (GRCh38)
22:25001790 (GRCh37)
Canonical SPDI:: NC_000022.11:24605822:TATAT:TATATAATATAT
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATAATATAT=0./0 (ALFA)
HGVS:: NC_000022.11:g.24605823_24605827TA[3]AT[3], NC_000022.10:g.25001790_25001794TA[3]AT[3], NG_008111.1:g.27073_27077TA[3]AT[3]

Select item 14913555588.

rs1491355558 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATATTAATATTAATATATAAATATATAATATGTAA [Show Flanks]
Chromosome:: 22:24605058 (GRCh38)
22:25001026 (GRCh37)
Canonical SPDI:: NC_000022.11:24605058::A,NC_000022.11:24605058::ATATTAATATTAATATATAAATATATAATATGTAA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00001/1 (GnomAD)
A=0.0005/8 (TOMMO)
HGVS:: NC_000022.11:g.24605058_24605059insA, NC_000022.11:g.24605058_24605059insATATTAATATTAATATATAAATATATAATATGTAA, NC_000022.10:g.25001025_25001026insA, NC_000022.10:g.25001025_25001026insATATTAATATTAATATATAAATATATAATATGTAA, NG_008111.1:g.26308_26309insA, NG_008111.1:g.26308_26309insATATTAATATTAATATATAAATATATAATATGTAA

Select item 14913525189.

rs1491352518 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24605133 (GRCh38)
22:25001100 (GRCh37)
Canonical SPDI:: NC_000022.11:24605132:TT:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
-=0.00006/1 (TOMMO)
HGVS:: NC_000022.11:g.24605133_24605134del, NC_000022.10:g.25001100_25001101del, NG_008111.1:g.26383_26384del

Select item 149133976010.

rs1491339760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATAA [Show Flanks]
Chromosome:: 22:24605931 (GRCh38)
22:25001899 (GRCh37)
Canonical SPDI:: NC_000022.11:24605931:A:ACATATAA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACATATAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24605932_24605933insCATATAA, NC_000022.10:g.25001899_25001900insCATATAA, NG_008111.1:g.27182_27183insCATATAA

Select item 149133350911.

rs1491333509 [Homo sapiens]

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

Select item 149131008412.

rs1491310084 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24605756 (GRCh38)
22:25001723 (GRCh37)
Canonical SPDI:: NC_000022.11:24605755:TT:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00708/84 (ALFA)
HGVS:: NC_000022.11:g.24605756_24605757del, NC_000022.10:g.25001723_25001724del, NG_008111.1:g.27006_27007del

Select item 149129900313.

rs1491299003 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 22:24605756 (GRCh38)
22:25001724 (GRCh37)
Canonical SPDI:: NC_000022.11:24605756:TATATA:TATATATA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24605757TA[4], NC_000022.10:g.25001724TA[4], NG_008111.1:g.27007TA[4]

Select item 149126045114.

rs1491260451 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24605185 (GRCh38)
22:25001152 (GRCh37)
Canonical SPDI:: NC_000022.11:24605184:TT:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00371/44 (ALFA)
-=0.00008/2 (TOMMO)
-=0.00025/17 (GnomAD)
HGVS:: NC_000022.11:g.24605185_24605186del, NC_000022.10:g.25001152_25001153del, NG_008111.1:g.26435_26436del

Select item 149124583815.

rs1491245838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATATTATATATATATA [Show Flanks]
Chromosome:: 22:24605944 (GRCh38)
22:25001911 (GRCh37)
Canonical SPDI:: NC_000022.11:24605938:ATATATA:ATATA,NC_000022.11:24605938:ATATATA:ATATATATA,NC_000022.11:24605938:ATATATA:ATATATATATATTATATATATATA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATA=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000022.11:g.24605940TA[2], NC_000022.11:g.24605940TA[4], NC_000022.11:g.24605939_24605945AT[6]TA[6], NC_000022.10:g.25001907TA[2], NC_000022.10:g.25001907TA[4], NC_000022.10:g.25001906_25001912AT[6]TA[6], NG_008111.1:g.27190TA[2], NG_008111.1:g.27190TA[4], NG_008111.1:g.27189_27195AT[6]TA[6]

Select item 149124538516.

rs1491245385 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:24605937 (GRCh38)
22:25001904 (GRCh37)
Canonical SPDI:: NC_000022.11:24605930:TATATATA:TATATA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000022.11:g.24605931TA[3], NC_000022.10:g.25001898TA[3], NG_008111.1:g.27181TA[3]

Select item 149121573617.

rs1491215736 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 22:24605133 (GRCh38)
22:25001101 (GRCh37)
Canonical SPDI:: NC_000022.11:24605133::AA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.00261/31 (ALFA)
AA=0.00003/2 (GnomAD)
HGVS:: NC_000022.11:g.24605133_24605134insAA, NC_000022.10:g.25001100_25001101insAA, NG_008111.1:g.26383_26384insAA

Select item 149120150618.

rs1491201506 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:24605058 (GRCh38)
22:25001025 (GRCh37)
Canonical SPDI:: NC_000022.11:24605057:TT:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00219/26 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000022.11:g.24605058_24605059del, NC_000022.10:g.25001025_25001026del, NG_008111.1:g.26308_26309del

Select item 149117738019.

rs1491177380 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 22:24605787 (GRCh38)
22:25001755 (GRCh37)
Canonical SPDI:: NC_000022.11:24605787::AA
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000022.11:g.24605787_24605788insAA, NC_000022.10:g.25001754_25001755insAA, NG_008111.1:g.27037_27038insAA

Select item 149112918420.

rs1491129184 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 22:24605849 (GRCh38)
22:25001816 (GRCh37)
Canonical SPDI:: NC_000022.11:24605848:AA:
Gene:: GGT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.24605849_24605850del, NC_000022.10:g.25001816_25001817del, NG_008111.1:g.27099_27100del

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