SNP Links for Gene (Select 55853) - SNP

Links from Gene

Items: 1 to 20 of 5944

<< First< Prev

Page of 298

Next >Last >>

Select item 14915498571.

rs1491549857 has merged into rs11396609 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 10:1036014 (GRCh38)
10:1081954 (GRCh37)
Canonical SPDI:: NC_000010.11:1036004:TTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:1036004:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:1036004:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:1036004:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:1036004:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:1036004:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1869/936 (1000Genomes)
T=0.24329/145 (NorthernSweden)
T=0.26861/996 (TWINSUK)
T=0.26933/1038 (ALSPAC)
HGVS:: NC_000010.11:g.1036014_1036016del, NC_000010.11:g.1036015_1036016del, NC_000010.11:g.1036016del, NC_000010.11:g.1036016dup, NC_000010.11:g.1036015_1036016dup, NC_000010.11:g.1036014_1036016dup, NC_000010.10:g.1081954_1081956del, NC_000010.10:g.1081955_1081956del, NC_000010.10:g.1081956del, NC_000010.10:g.1081956dup, NC_000010.10:g.1081955_1081956dup, NC_000010.10:g.1081954_1081956dup

Select item 14913522492.

rs1491352249 has merged into rs11384261 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:1022272 (GRCh38)
10:1068212 (GRCh37)
Canonical SPDI:: NC_000010.11:1022259:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:1022259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:1022259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:1022259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:1022259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:1022259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:1022259:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2237/903 (1000Genomes)
HGVS:: NC_000010.11:g.1022272_1022274del, NC_000010.11:g.1022273_1022274del, NC_000010.11:g.1022274del, NC_000010.11:g.1022274dup, NC_000010.11:g.1022273_1022274dup, NC_000010.11:g.1022272_1022274dup, NC_000010.11:g.1022265_1022274dup, NC_000010.10:g.1068212_1068214del, NC_000010.10:g.1068213_1068214del, NC_000010.10:g.1068214del, NC_000010.10:g.1068214dup, NC_000010.10:g.1068213_1068214dup, NC_000010.10:g.1068212_1068214dup, NC_000010.10:g.1068205_1068214dup

Select item 14913148683.

rs1491314868 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:1022274 (GRCh38)
10:1068215 (GRCh37)
Canonical SPDI:: NC_000010.11:1022274::G
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.1022274_1022275insG, NC_000010.10:g.1068214_1068215insG

Select item 14913099634.

rs1491309963 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:1032998 (GRCh38)
10:1078938 (GRCh37)
Canonical SPDI:: NC_000010.11:1032995:CTCT:CT
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.1032996CT[1], NC_000010.10:g.1078936CT[1]

Select item 14911417375.

rs1491141737 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTC [Show Flanks]
Chromosome:: 10:1032996 (GRCh38)
10:1078937 (GRCh37)
Canonical SPDI:: NC_000010.11:1032996:TCTGTC:TCTGTCTGTC
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTGTCTGTC=0.0025/11 (ALFA)
TCTG=0.0022/10 (Estonian)
HGVS:: NC_000010.11:g.1032999_1033002dup, NC_000010.10:g.1078939_1078942dup

Select item 14911231376.

rs1491123137 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:1037037 (GRCh38)
10:1082978 (GRCh37)
Canonical SPDI:: NC_000010.11:1037037:AA:AAA
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1037039dup, NC_000010.10:g.1082979dup

Select item 14910320277.

rs1491032027 has merged into rs34711854 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTTTTTTTCCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:1032379 (GRCh38)
10:1078319 (GRCh37)
Canonical SPDI:: NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTCCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:1032368:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0.1/4 (GENOME_DK)
-=0.3227/1616 (1000Genomes)
HGVS:: NC_000010.11:g.1032379_1032391del, NC_000010.11:g.1032380_1032391del, NC_000010.11:g.1032381_1032391del, NC_000010.11:g.1032382_1032391del, NC_000010.11:g.1032383_1032391del, NC_000010.11:g.1032385_1032391del, NC_000010.11:g.1032386_1032391del, NC_000010.11:g.1032388_1032391del, NC_000010.11:g.1032389_1032391del, NC_000010.11:g.1032390_1032391del, NC_000010.11:g.1032391del, NC_000010.11:g.1032391dup, NC_000010.11:g.1032390_1032391dup, NC_000010.11:g.1032389_1032391dup, NC_000010.11:g.1032388_1032391dup, NC_000010.11:g.1032387_1032391dup, NC_000010.11:g.1032386_1032391dup, NC_000010.11:g.1032369_1032391T[29]GTTTTTTTCCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.1032385_1032391dup, NC_000010.11:g.1032384_1032391dup, NC_000010.11:g.1032383_1032391dup, NC_000010.11:g.1032382_1032391dup, NC_000010.11:g.1032381_1032391dup, NC_000010.11:g.1032380_1032391dup, NC_000010.11:g.1032379_1032391dup, NC_000010.11:g.1032377_1032391dup, NC_000010.11:g.1032376_1032391dup, NC_000010.11:g.1032375_1032391dup, NC_000010.11:g.1032374_1032391dup, NC_000010.11:g.1032369_1032391dup, NC_000010.11:g.1032391_1032392insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.1032391_1032392insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.1032391_1032392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.1078319_1078331del, NC_000010.10:g.1078320_1078331del, NC_000010.10:g.1078321_1078331del, NC_000010.10:g.1078322_1078331del, NC_000010.10:g.1078323_1078331del, NC_000010.10:g.1078325_1078331del, NC_000010.10:g.1078326_1078331del, NC_000010.10:g.1078328_1078331del, NC_000010.10:g.1078329_1078331del, NC_000010.10:g.1078330_1078331del, NC_000010.10:g.1078331del, NC_000010.10:g.1078331dup, NC_000010.10:g.1078330_1078331dup, NC_000010.10:g.1078329_1078331dup, NC_000010.10:g.1078328_1078331dup, NC_000010.10:g.1078327_1078331dup, NC_000010.10:g.1078326_1078331dup, NC_000010.10:g.1078309_1078331T[29]GTTTTTTTCCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.1078325_1078331dup, NC_000010.10:g.1078324_1078331dup, NC_000010.10:g.1078323_1078331dup, NC_000010.10:g.1078322_1078331dup, NC_000010.10:g.1078321_1078331dup, NC_000010.10:g.1078320_1078331dup, NC_000010.10:g.1078319_1078331dup, NC_000010.10:g.1078317_1078331dup, NC_000010.10:g.1078316_1078331dup, NC_000010.10:g.1078315_1078331dup, NC_000010.10:g.1078314_1078331dup, NC_000010.10:g.1078309_1078331dup, NC_000010.10:g.1078331_1078332insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.1078331_1078332insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.1078331_1078332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909650438.

rs1490965043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:1023666 (GRCh38)
10:1069606 (GRCh37)
Canonical SPDI:: NC_000010.11:1023665:G:A,NC_000010.11:1023665:G:T
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.1023666G>A, NC_000010.11:g.1023666G>T, NC_000010.10:g.1069606G>A, NC_000010.10:g.1069606G>T

Select item 14907806009.

rs1490780600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:1043714 (GRCh38)
10:1089654 (GRCh37)
Canonical SPDI:: NC_000010.11:1043713:G:A
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1043714G>A, NC_000010.10:g.1089654G>A, NR_027709.1:n.818G>A, NR_027708.1:n.734G>A, NR_024628.1:n.601G>A, NR_024629.1:n.438G>A, NM_018470.1:c.257G>A

Select item 149044967610.

rs1490449676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:1022313 (GRCh38)
10:1068253 (GRCh37)
Canonical SPDI:: NC_000010.11:1022312:A:G
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.1022313A>G, NC_000010.10:g.1068253A>G

Select item 149017634911.

rs1490176349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:1028484 (GRCh38)
10:1074424 (GRCh37)
Canonical SPDI:: NC_000010.11:1028483:A:G
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1028484A>G, NC_000010.10:g.1074424A>G

Select item 149016072712.

rs1490160727 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGTAG>- [Show Flanks]
Chromosome:: 10:1030600 (GRCh38)
10:1076540 (GRCh37)
Canonical SPDI:: NC_000010.11:1030598:GAGGTAG:G
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1030600_1030605del, NC_000010.10:g.1076540_1076545del

Select item 149001031213.

rs1490010312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:1025026 (GRCh38)
10:1070966 (GRCh37)
Canonical SPDI:: NC_000010.11:1025025:A:C,NC_000010.11:1025025:A:G
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.03427/935 (GnomAD)
G=0.03631/535 (TOMMO)
G=0.0377/69 (Korea1K)
C=0.3/3 (SGDP_PRJ)
HGVS:: NC_000010.11:g.1025026A>C, NC_000010.11:g.1025026A>G, NC_000010.10:g.1070966A>C, NC_000010.10:g.1070966A>G

Select item 148999886414.

rs1489998864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:1029561 (GRCh38)
10:1075501 (GRCh37)
Canonical SPDI:: NC_000010.11:1029560:A:T
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0063/28 (ALFA)
T=0.006/27 (Estonian)
HGVS:: NC_000010.11:g.1029561A>T, NC_000010.10:g.1075501A>T

Select item 148975528715.

rs1489755287 has merged into rs143422113 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 10:1029557 (GRCh38)
10:1075497 (GRCh37)
Canonical SPDI:: NC_000010.11:1029548:TTTTTTTTTT:TTTTTTTT,NC_000010.11:1029548:TTTTTTTTTT:TTTTTTTTT,NC_000010.11:1029548:TTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:1029548:TTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:1029548:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.26607/1192 (Estonian)
T=0.28749/1108 (ALSPAC)
T=0.2881/1443 (1000Genomes)
T=0.28837/4833 (TOMMO)
T=0.29315/1087 (TWINSUK)
T=0.29833/179 (NorthernSweden)
T=0.3155/578 (Korea1K)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000010.11:g.1029557_1029558del, NC_000010.11:g.1029558del, NC_000010.11:g.1029558dup, NC_000010.11:g.1029557_1029558dup, NC_000010.11:g.1029550_1029558dup, NC_000010.10:g.1075497_1075498del, NC_000010.10:g.1075498del, NC_000010.10:g.1075498dup, NC_000010.10:g.1075497_1075498dup, NC_000010.10:g.1075490_1075498dup

Select item 148952430916.

rs1489524309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:1024692 (GRCh38)
10:1070632 (GRCh37)
Canonical SPDI:: NC_000010.11:1024691:C:G
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1024692C>G, NC_000010.10:g.1070632C>G, NM_033261.3:c.32G>C, NM_033261.2:c.32G>C, NP_150286.1:p.Arg11Thr

Select item 148947438017.

rs1489474380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:1020793 (GRCh38)
10:1066733 (GRCh37)
Canonical SPDI:: NC_000010.11:1020792:C:G
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1020793C>G, NC_000010.10:g.1066733C>G, NM_033261.3:c.340G>C, NM_033261.2:c.340G>C, NP_150286.1:p.Ala114Pro

Select item 148943880218.

rs1489438802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:1022732 (GRCh38)
10:1068672 (GRCh37)
Canonical SPDI:: NC_000010.11:1022731:C:G
Gene:: IDI2-AS1 (Varview), IDI2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.1022732C>G, NC_000010.10:g.1068672C>G, NM_033261.3:c.186G>C, NM_033261.2:c.186G>C, NR_027709.1:n.96C>G, NR_027708.1:n.96C>G, NR_024628.1:n.96C>G, NR_024629.1:n.96C>G, NM_018470.1:c.-86C>G, NP_150286.1:p.Lys62Asn

Select item 148935342319.

rs1489353423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1042322 (GRCh38)
10:1088262 (GRCh37)
Canonical SPDI:: NC_000010.11:1042321:C:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.1042322C>T, NC_000010.10:g.1088262C>T

Select item 148930301320.

rs1489303013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:1036180 (GRCh38)
10:1082120 (GRCh37)
Canonical SPDI:: NC_000010.11:1036179:T:G
Gene:: IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.1036180T>G, NC_000010.10:g.1082120T>G

<< First< Prev

Page of 298

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 5944

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity