SNP Links for Gene (Select 10233) - SNP

Links from Gene

Items: 1 to 20 of 2855

<< First< Prev

Page of 143

Next >Last >>

Select item 14915888621.

rs1491588862 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AG,ATATA,ATATAATAG [Show Flanks]
Chromosome:: 12:6909283 (GRCh38)
12:7018448 (GRCh37)
Canonical SPDI:: NC_000012.12:6909283::A,NC_000012.12:6909283::AG,NC_000012.12:6909283::ATATA,NC_000012.12:6909283::ATATAATAG
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0./0 (ALFA)
A=0.00008/1 (TOMMO)
HGVS:: NC_000012.12:g.6909283_6909284insA, NC_000012.12:g.6909283_6909284insAG, NC_000012.12:g.6909283_6909284insATATA, NC_000012.12:g.6909283_6909284insATATAATAG, NC_000012.11:g.7018447_7018448insA, NC_000012.11:g.7018447_7018448insAG, NC_000012.11:g.7018447_7018448insATATA, NC_000012.11:g.7018447_7018448insATATAATAG, NW_003871083.2:g.110867_110868insA, NW_003871083.2:g.110867_110868insAG, NW_003871083.2:g.110867_110868insATATA, NW_003871083.2:g.110867_110868insATATAATAG

Select item 14915853852.

rs1491585385 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 12:6909225 (GRCh38)
12:7018390 (GRCh37)
Canonical SPDI:: NC_000012.12:6909225:T:TGT
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000012.12:g.6909226_6909227insGT, NC_000012.11:g.7018390_7018391insGT, NW_003871083.2:g.110810_110811insGT

Select item 14914788443.

rs1491478844 has merged into rs1353468826 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 12:6909333 (GRCh38)
12:7018497 (GRCh37)
Canonical SPDI:: NC_000012.12:6909327:ATATATATA:ATATA,NC_000012.12:6909327:ATATATATA:ATATATA
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATA=0./0 (ALFA)
HGVS:: NC_000012.12:g.6909329TA[2], NC_000012.12:g.6909329TA[3], NC_000012.11:g.7018493TA[2], NC_000012.11:g.7018493TA[3], NW_003871083.2:g.110913TA[2], NW_003871083.2:g.110913TA[3]

Select item 14913746794.

rs1491374679 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATATAATATATAATATATATATATAATA [Show Flanks]
Chromosome:: 12:6909242 (GRCh38)
12:7018407 (GRCh37)
Canonical SPDI:: NC_000012.12:6909242::A,NC_000012.12:6909242::ATATAATATATAATATATATATATAATA
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.6909242_6909243insA, NC_000012.12:g.6909242_6909243insATATAATATATAATATATATATATAATA, NC_000012.11:g.7018406_7018407insA, NC_000012.11:g.7018406_7018407insATATAATATATAATATATATATATAATA, NW_003871083.2:g.110826_110827insA, NW_003871083.2:g.110826_110827insATATAATATATAATATATATATATAATA

Select item 14913187235.

rs1491318723 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 12:6909328 (GRCh38)
12:7018493 (GRCh37)
Canonical SPDI:: NC_000012.12:6909328:TAT:TATTAT
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATTAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.6909329_6909331dup, NC_000012.11:g.7018493_7018495dup, NW_003871083.2:g.110913_110915dup

Select item 14912613456.

rs1491261345 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:6909242 (GRCh38)
12:7018406 (GRCh37)
Canonical SPDI:: NC_000012.12:6909241:TT:
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.6909242_6909243del, NC_000012.11:g.7018406_7018407del, NW_003871083.2:g.110826_110827del

Select item 14911970097.

rs1491197009 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:6909225 (GRCh38)
12:7018389 (GRCh37)
Canonical SPDI:: NC_000012.12:6909224:TT:
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.6909225_6909226del, NC_000012.11:g.7018389_7018390del, NW_003871083.2:g.110809_110810del

Select item 14911351828.

rs1491135182 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:6909283 (GRCh38)
12:7018447 (GRCh37)
Canonical SPDI:: NC_000012.12:6909282:TT:
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00877/104 (ALFA)
HGVS:: NC_000012.12:g.6909283_6909284del, NC_000012.11:g.7018447_7018448del, NW_003871083.2:g.110867_110868del

Select item 14909963069.

rs1490996306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:6913751 (GRCh38)
12:7022915 (GRCh37)
Canonical SPDI:: NC_000012.12:6913750:A:C
Gene:: ENO2 (Varview), LRRC23 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6913751A>C, NC_000012.11:g.7022915A>C, NW_003871083.2:g.115335A>C

Select item 149092818410.

rs1490928184 [Homo sapiens]

Variant type:: DEL
Alleles:: GGGAGCCGCAGCCGCCGCCGCCA>- [Show Flanks]
Chromosome:: 12:6914555 (GRCh38)
12:7023719 (GRCh37)
Canonical SPDI:: NC_000012.12:6914554:GGGAGCCGCAGCCGCCGCCGCCA:
Gene:: ENO2 (Varview), LRRC23 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.6914555_6914577del, NC_000012.11:g.7023719_7023741del, NW_003871083.2:g.116139_116161del, NM_001975.2:c.-117_-95del

Select item 149061902311.

rs1490619023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6908372 (GRCh38)
12:7017536 (GRCh37)
Canonical SPDI:: NC_000012.12:6908371:G:A
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6908372G>A, NC_000012.11:g.7017536G>A, NW_003871083.2:g.109956G>A

Select item 149056428412.

rs1490564284 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:6908903 (GRCh38)
12:7018067 (GRCh37)
Canonical SPDI:: NC_000012.12:6908900:AAAA:AA
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000084/1 (ALFA)
-=0.000038/5 (GnomAD)
HGVS:: NC_000012.12:g.6908903_6908904del, NC_000012.11:g.7018067_7018068del, NW_003871083.2:g.110487_110488del

Select item 149050506813.

rs1490505068 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTTTTTTTTTTTTT>- [Show Flanks]
Chromosome:: 12:6913555 (GRCh38)
12:7022719 (GRCh37)
Canonical SPDI:: NC_000012.12:6913551:TTTGTTTTTTTTTTTTTTT:TTT
Gene:: ENO2 (Varview), LRRC23 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000012.12:g.6913555_6913570del, NC_000012.11:g.7022719_7022734del, NW_003871083.2:g.115139_115154del

Select item 149018818014.

rs1490188180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6912804 (GRCh38)
12:7021968 (GRCh37)
Canonical SPDI:: NC_000012.12:6912803:T:C
Gene:: ENO2 (Varview), LRRC23 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6912804T>C, NC_000012.11:g.7021968T>C, NW_003871083.2:g.114388T>C, NM_201650.3:c.833T>C, NM_201650.2:c.833T>C, NM_001135217.2:c.833T>C, NM_001135217.1:c.833T>C, NM_181613.2:c.833T>C, NM_181613.1:c.833T>C, NP_964013.1:p.Leu278Pro, NP_001128689.1:p.Leu278Pro

Select item 149000151415.

rs1490001514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6913357 (GRCh38)
12:7022521 (GRCh37)
Canonical SPDI:: NC_000012.12:6913356:G:A
Gene:: ENO2 (Varview), LRRC23 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.6913357G>A, NC_000012.11:g.7022521G>A, NW_003871083.2:g.114941G>A

Select item 148862629616.

rs1488626296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6911810 (GRCh38)
12:7020974 (GRCh37)
Canonical SPDI:: NC_000012.12:6911809:A:G
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/12 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000012.12:g.6911810A>G, NC_000012.11:g.7020974A>G, NW_003871083.2:g.113394A>G

Select item 148859701317.

rs1488597013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6905661 (GRCh38)
12:7014825 (GRCh37)
Canonical SPDI:: NC_000012.12:6905660:T:C
Gene:: LRRC23 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6905661T>C, NC_000012.11:g.7014825T>C, NW_003871083.2:g.107245T>C, NM_006992.4:c.28T>C, NM_006992.3:c.28T>C, NM_201650.3:c.28T>C, NM_201650.2:c.28T>C, NM_001135217.2:c.28T>C, NM_001135217.1:c.28T>C, NM_181613.2:c.28T>C, NM_181613.1:c.28T>C, NP_008923.1:p.Ser10Pro, NP_964013.1:p.Ser10Pro, NP_001128689.1:p.Ser10Pro

Select item 148849443918.

rs1488494439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6906721 (GRCh38)
12:7015885 (GRCh37)
Canonical SPDI:: NC_000012.12:6906720:A:G
Gene:: LRRC23 (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.6906721A>G, NC_000012.11:g.7015885A>G, NW_003871083.2:g.108305A>G

Select item 148824904419.

rs1488249044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6912406 (GRCh38)
12:7021570 (GRCh37)
Canonical SPDI:: NC_000012.12:6912405:A:G
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.6912406A>G, NC_000012.11:g.7021570A>G, NW_003871083.2:g.113990A>G

Select item 148751555920.

rs1487515559 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:6906154 (GRCh38)
12:7015319 (GRCh37)
Canonical SPDI:: NC_000012.12:6906154:GGGGGG:GGGGGGG
Gene:: LRRC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.6906160dup, NC_000012.11:g.7015324dup, NW_003871083.2:g.107744dup

<< First< Prev

Page of 143

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2855

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity