SNP Links for Gene (Select 9570) - SNP

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Select item 14915690251.

rs1491569025 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:46944624 (GRCh38)
17:45021990 (GRCh37)
Canonical SPDI:: NC_000017.11:46944623:TC:
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.46944624_46944625del, NC_000017.10:g.45021990_45021991del, NG_031806.2:g.26505_26506del

Select item 14915315192.

rs1491531519 has merged into rs34316777 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 17:46963556 (GRCh38)
17:45040922 (GRCh37)
Canonical SPDI:: NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:46963543:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2624/1314 (1000Genomes)
HGVS:: NC_000017.11:g.46963556_46963560del, NC_000017.11:g.46963557_46963560del, NC_000017.11:g.46963558_46963560del, NC_000017.11:g.46963559_46963560del, NC_000017.11:g.46963560del, NC_000017.11:g.46963560dup, NC_000017.11:g.46963559_46963560dup, NC_000017.11:g.46963558_46963560dup, NC_000017.10:g.45040922_45040926del, NC_000017.10:g.45040923_45040926del, NC_000017.10:g.45040924_45040926del, NC_000017.10:g.45040925_45040926del, NC_000017.10:g.45040926del, NC_000017.10:g.45040926dup, NC_000017.10:g.45040925_45040926dup, NC_000017.10:g.45040924_45040926dup, NG_031806.2:g.45437_45441del, NG_031806.2:g.45438_45441del, NG_031806.2:g.45439_45441del, NG_031806.2:g.45440_45441del, NG_031806.2:g.45441del, NG_031806.2:g.45441dup, NG_031806.2:g.45440_45441dup, NG_031806.2:g.45439_45441dup

Select item 14915166973.

rs1491516697 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:46938580 (GRCh38)
17:45015946 (GRCh37)
Canonical SPDI:: NC_000017.11:46938578:TCT:T
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.46938580_46938581del, NC_000017.10:g.45015946_45015947del, NG_031806.2:g.20461_20462del

Select item 14914632064.

rs1491463206 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:46963560 (GRCh38)
17:45040927 (GRCh37)
Canonical SPDI:: NC_000017.11:46963560:T:TT
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.46963561dup, NC_000017.10:g.45040927dup, NG_031806.2:g.45442dup

Select item 14913713915.

rs1491371391 has merged into rs61284512 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:46946473 (GRCh38)
17:45023839 (GRCh37)
Canonical SPDI:: NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:46946461:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3548/1777 (1000Genomes)
HGVS:: NC_000017.11:g.46946473_46946479del, NC_000017.11:g.46946474_46946479del, NC_000017.11:g.46946475_46946479del, NC_000017.11:g.46946476_46946479del, NC_000017.11:g.46946477_46946479del, NC_000017.11:g.46946478_46946479del, NC_000017.11:g.46946479del, NC_000017.11:g.46946479dup, NC_000017.11:g.46946478_46946479dup, NC_000017.11:g.46946477_46946479dup, NC_000017.10:g.45023839_45023845del, NC_000017.10:g.45023840_45023845del, NC_000017.10:g.45023841_45023845del, NC_000017.10:g.45023842_45023845del, NC_000017.10:g.45023843_45023845del, NC_000017.10:g.45023844_45023845del, NC_000017.10:g.45023845del, NC_000017.10:g.45023845dup, NC_000017.10:g.45023844_45023845dup, NC_000017.10:g.45023843_45023845dup, NG_031806.2:g.28354_28360del, NG_031806.2:g.28355_28360del, NG_031806.2:g.28356_28360del, NG_031806.2:g.28357_28360del, NG_031806.2:g.28358_28360del, NG_031806.2:g.28359_28360del, NG_031806.2:g.28360del, NG_031806.2:g.28360dup, NG_031806.2:g.28359_28360dup, NG_031806.2:g.28358_28360dup

Select item 14913530816.

rs1491353081 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:46966928 (GRCh38)
17:45044294 (GRCh37)
Canonical SPDI:: NC_000017.11:46966927:AT:
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.46966928_46966929del, NC_000017.10:g.45044294_45044295del, NG_031806.2:g.48809_48810del, NR_148349.2:n.2216_2217del, NR_148349.1:n.2259_2260del, NR_148350.2:n.2075_2076del, NR_148350.1:n.2118_2119del, NR_148351.2:n.1566_1567del, NR_148351.1:n.1609_1610del, NM_001321133.2:c.*204_*205del, NM_001321133.1:c.*204_*205del, XM_017025378.2:c.*204_*205del, XM_017025378.1:c.*204_*205del, XM_017025386.2:c.*204_*205del, XM_017025386.1:c.*204_*205del, XM_017025387.2:c.*204_*205del, XM_017025387.1:c.*204_*205del

Select item 14913317207.

rs1491331720 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:46939597 (GRCh38)
17:45016963 (GRCh37)
Canonical SPDI:: NC_000017.11:46939595:ACA:A
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.46939597_46939598del, NC_000017.10:g.45016963_45016964del, NG_031806.2:g.21478_21479del, NM_004287.5:c.*837_*838del, NM_004287.4:c.*837_*838del, NM_004287.3:c.*837_*838del, NM_001363851.2:c.*837_*838del, NM_001363851.1:c.*837_*838del, NM_001353114.2:c.*837_*838del, NM_001353114.1:c.*837_*838del, NM_001321134.2:c.*837_*838del, NM_001321134.1:c.*837_*838del, NM_001330252.2:c.*837_*838del, NM_001330252.1:c.*837_*838del, NM_001353115.2:c.*837_*838del, NM_001353115.1:c.*837_*838del

Select item 14913269368.

rs1491326936 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 17:46966928 (GRCh38)
17:45044295 (GRCh37)
Canonical SPDI:: NC_000017.11:46966928:TCT:TCTCT
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0.000214/3 (ALFA)
TC=0.000178/25 (GnomAD)
TC=0.000223/59 (TOPMED)
TC=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.46966930_46966931dup, NC_000017.10:g.45044296_45044297dup, NG_031806.2:g.48811_48812dup, NR_148349.2:n.2218_2219dup, NR_148349.1:n.2261_2262dup, NR_148350.2:n.2077_2078dup, NR_148350.1:n.2120_2121dup, NR_148351.2:n.1568_1569dup, NR_148351.1:n.1611_1612dup, NM_001321133.2:c.*206_*207dup, NM_001321133.1:c.*206_*207dup, XM_017025378.2:c.*206_*207dup, XM_017025378.1:c.*206_*207dup, XM_017025386.2:c.*206_*207dup, XM_017025386.1:c.*206_*207dup, XM_017025387.2:c.*206_*207dup, XM_017025387.1:c.*206_*207dup

Select item 14912730729.

rs1491273072 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:46963561 (GRCh38)
17:45040927 (GRCh37)
Canonical SPDI:: NC_000017.11:46963559:ATA:A
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.46963561_46963562del, NC_000017.10:g.45040927_45040928del, NG_031806.2:g.45442_45443del

Select item 149124706610.

rs1491247066 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:46963543 (GRCh38)
17:45040909 (GRCh37)
Canonical SPDI:: NC_000017.11:46963542:CA:
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00194/23 (ALFA)
HGVS:: NC_000017.11:g.46963543_46963544del, NC_000017.10:g.45040909_45040910del, NG_031806.2:g.45424_45425del

Select item 149115975411.

rs1491159754 has merged into rs1315554319 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 17:46944625 (GRCh38)
17:45021991 (GRCh37)
Canonical SPDI:: NC_000017.11:46944624:CC:C,NC_000017.11:46944624:CC:CCC
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.46944626del, NC_000017.11:g.46944626dup, NC_000017.10:g.45021992del, NC_000017.10:g.45021992dup, NG_031806.2:g.26507del, NG_031806.2:g.26507dup

Select item 149113611112.

rs1491136111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTTTTTC [Show Flanks]
Chromosome:: 17:46944611 (GRCh38)
17:45021978 (GRCh37)
Canonical SPDI:: NC_000017.11:46944611:TTTTTTTTTTTTTC:TTTTTTTTTTTTTCTTTTTTTTTTTTTC
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTCTTTTTTTTTTTTTC=0./0 (ALFA)
TTTTTTTTTTTTTC=0.000004/1 (TOPMED)
TTTTTTTTTTTTTC=0.000057/2 (GnomAD)
HGVS:: NC_000017.11:g.46944612_46944625dup, NC_000017.10:g.45021978_45021991dup, NG_031806.2:g.26493_26506dup

Select item 149110203513.

rs1491102035 has merged into rs55760473 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 17:46944621 (GRCh38)
17:45021987 (GRCh37)
Canonical SPDI:: NC_000017.11:46944610:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:46944610:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:46944610:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:46944610:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:46944610:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.46944621_46944624del, NC_000017.11:g.46944622_46944624del, NC_000017.11:g.46944623_46944624del, NC_000017.11:g.46944624del, NC_000017.11:g.46944624dup, NC_000017.10:g.45021987_45021990del, NC_000017.10:g.45021988_45021990del, NC_000017.10:g.45021989_45021990del, NC_000017.10:g.45021990del, NC_000017.10:g.45021990dup, NG_031806.2:g.26502_26505del, NG_031806.2:g.26503_26505del, NG_031806.2:g.26504_26505del, NG_031806.2:g.26505del, NG_031806.2:g.26505dup

Select item 149106571214.

rs1491065712 has merged into rs199529204 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:46941750 (GRCh38)
17:45019116 (GRCh37)
Canonical SPDI:: NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:46941740:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1869/936 (1000Genomes)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000017.11:g.46941750_46941756del, NC_000017.11:g.46941754_46941756del, NC_000017.11:g.46941755_46941756del, NC_000017.11:g.46941756del, NC_000017.11:g.46941756dup, NC_000017.11:g.46941755_46941756dup, NC_000017.11:g.46941754_46941756dup, NC_000017.11:g.46941752_46941756dup, NC_000017.11:g.46941751_46941756dup, NC_000017.11:g.46941750_46941756dup, NC_000017.11:g.46941749_46941756dup, NC_000017.11:g.46941746_46941756dup, NC_000017.11:g.46941744_46941756dup, NC_000017.10:g.45019116_45019122del, NC_000017.10:g.45019120_45019122del, NC_000017.10:g.45019121_45019122del, NC_000017.10:g.45019122del, NC_000017.10:g.45019122dup, NC_000017.10:g.45019121_45019122dup, NC_000017.10:g.45019120_45019122dup, NC_000017.10:g.45019118_45019122dup, NC_000017.10:g.45019117_45019122dup, NC_000017.10:g.45019116_45019122dup, NC_000017.10:g.45019115_45019122dup, NC_000017.10:g.45019112_45019122dup, NC_000017.10:g.45019110_45019122dup, NG_031806.2:g.23631_23637del, NG_031806.2:g.23635_23637del, NG_031806.2:g.23636_23637del, NG_031806.2:g.23637del, NG_031806.2:g.23637dup, NG_031806.2:g.23636_23637dup, NG_031806.2:g.23635_23637dup, NG_031806.2:g.23633_23637dup, NG_031806.2:g.23632_23637dup, NG_031806.2:g.23631_23637dup, NG_031806.2:g.23630_23637dup, NG_031806.2:g.23627_23637dup, NG_031806.2:g.23625_23637dup, NM_004287.5:c.*2990_*2996del, NM_004287.5:c.*2994_*2996del, NM_004287.5:c.*2995_*2996del, NM_004287.5:c.*2996del, NM_004287.5:c.*2996dup, NM_004287.5:c.*2995_*2996dup, NM_004287.5:c.*2994_*2996dup, NM_004287.5:c.*2992_*2996dup, NM_004287.5:c.*2991_*2996dup, NM_004287.5:c.*2990_*2996dup, NM_004287.5:c.*2989_*2996dup, NM_004287.5:c.*2986_*2996dup, NM_004287.5:c.*2984_*2996dup, NM_004287.4:c.*2990_*2996del, NM_004287.4:c.*2994_*2996del, NM_004287.4:c.*2995_*2996del, NM_004287.4:c.*2996del, NM_004287.4:c.*2996dup, NM_004287.4:c.*2995_*2996dup, NM_004287.4:c.*2994_*2996dup, NM_004287.4:c.*2992_*2996dup, NM_004287.4:c.*2991_*2996dup, NM_004287.4:c.*2990_*2996dup, NM_004287.4:c.*2989_*2996dup, NM_004287.4:c.*2986_*2996dup, NM_004287.4:c.*2984_*2996dup, NM_054022.4:c.*1137_*1143del, NM_054022.4:c.*1141_*1143del, NM_054022.4:c.*1142_*1143del, NM_054022.4:c.*1143del, NM_054022.4:c.*1143dup, NM_054022.4:c.*1142_*1143dup, NM_054022.4:c.*1141_*1143dup, NM_054022.4:c.*1139_*1143dup, NM_054022.4:c.*1138_*1143dup, NM_054022.4:c.*1137_*1143dup, NM_054022.4:c.*1136_*1143dup, NM_054022.4:c.*1133_*1143dup, NM_054022.4:c.*1131_*1143dup, NM_054022.3:c.*1137_*1143del, NM_054022.3:c.*1141_*1143del, NM_054022.3:c.*1142_*1143del, NM_054022.3:c.*1143del, NM_054022.3:c.*1143dup, NM_054022.3:c.*1142_*1143dup, NM_054022.3:c.*1141_*1143dup, NM_054022.3:c.*1139_*1143dup, NM_054022.3:c.*1138_*1143dup, NM_054022.3:c.*1137_*1143dup, NM_054022.3:c.*1136_*1143dup, NM_054022.3:c.*1133_*1143dup, NM_054022.3:c.*1131_*1143dup, NM_001363851.2:c.*2990_*2996del, NM_001363851.2:c.*2994_*2996del, NM_001363851.2:c.*2995_*2996del, NM_001363851.2:c.*2996del, NM_001363851.2:c.*2996dup, NM_001363851.2:c.*2995_*2996dup, NM_001363851.2:c.*2994_*2996dup, NM_001363851.2:c.*2992_*2996dup, NM_001363851.2:c.*2991_*2996dup, NM_001363851.2:c.*2990_*2996dup, NM_001363851.2:c.*2989_*2996dup, NM_001363851.2:c.*2986_*2996dup, NM_001363851.2:c.*2984_*2996dup, NM_001363851.1:c.*2990_*2996del, NM_001363851.1:c.*2994_*2996del, NM_001363851.1:c.*2995_*2996del, NM_001363851.1:c.*2996del, NM_001363851.1:c.*2996dup, NM_001363851.1:c.*2995_*2996dup, NM_001363851.1:c.*2994_*2996dup, NM_001363851.1:c.*2992_*2996dup, NM_001363851.1:c.*2991_*2996dup, NM_001363851.1:c.*2990_*2996dup, NM_001363851.1:c.*2989_*2996dup, NM_001363851.1:c.*2986_*2996dup, NM_001363851.1:c.*2984_*2996dup, NM_001353114.2:c.*2990_*2996del, NM_001353114.2:c.*2994_*2996del, NM_001353114.2:c.*2995_*2996del, NM_001353114.2:c.*2996del, NM_001353114.2:c.*2996dup, NM_001353114.2:c.*2995_*2996dup, NM_001353114.2:c.*2994_*2996dup, NM_001353114.2:c.*2992_*2996dup, NM_001353114.2:c.*2991_*2996dup, NM_001353114.2:c.*2990_*2996dup, NM_001353114.2:c.*2989_*2996dup, NM_001353114.2:c.*2986_*2996dup, NM_001353114.2:c.*2984_*2996dup, NM_001353114.1:c.*2990_*2996del, NM_001353114.1:c.*2994_*2996del, NM_001353114.1:c.*2995_*2996del, NM_001353114.1:c.*2996del, NM_001353114.1:c.*2996dup, NM_001353114.1:c.*2995_*2996dup, NM_001353114.1:c.*2994_*2996dup, NM_001353114.1:c.*2992_*2996dup, NM_001353114.1:c.*2991_*2996dup, NM_001353114.1:c.*2990_*2996dup, NM_001353114.1:c.*2989_*2996dup, NM_001353114.1:c.*2986_*2996dup, NM_001353114.1:c.*2984_*2996dup, NM_001321134.2:c.*2990_*2996del, NM_001321134.2:c.*2994_*2996del, NM_001321134.2:c.*2995_*2996del, NM_001321134.2:c.*2996del, NM_001321134.2:c.*2996dup, NM_001321134.2:c.*2995_*2996dup, NM_001321134.2:c.*2994_*2996dup, NM_001321134.2:c.*2992_*2996dup, NM_001321134.2:c.*2991_*2996dup, NM_001321134.2:c.*2990_*2996dup, NM_001321134.2:c.*2989_*2996dup, NM_001321134.2:c.*2986_*2996dup, NM_001321134.2:c.*2984_*2996dup, NM_001321134.1:c.*2990_*2996del, NM_001321134.1:c.*2994_*2996del, NM_001321134.1:c.*2995_*2996del, NM_001321134.1:c.*2996del, NM_001321134.1:c.*2996dup, NM_001321134.1:c.*2995_*2996dup, NM_001321134.1:c.*2994_*2996dup, NM_001321134.1:c.*2992_*2996dup, NM_001321134.1:c.*2991_*2996dup, NM_001321134.1:c.*2990_*2996dup, NM_001321134.1:c.*2989_*2996dup, NM_001321134.1:c.*2986_*2996dup, NM_001321134.1:c.*2984_*2996dup, NM_001330252.2:c.*2990_*2996del, NM_001330252.2:c.*2994_*2996del, NM_001330252.2:c.*2995_*2996del, NM_001330252.2:c.*2996del, NM_001330252.2:c.*2996dup, NM_001330252.2:c.*2995_*2996dup, NM_001330252.2:c.*2994_*2996dup, NM_001330252.2:c.*2992_*2996dup, NM_001330252.2:c.*2991_*2996dup, NM_001330252.2:c.*2990_*2996dup, NM_001330252.2:c.*2989_*2996dup, NM_001330252.2:c.*2986_*2996dup, NM_001330252.2:c.*2984_*2996dup, NM_001330252.1:c.*2990_*2996del, NM_001330252.1:c.*2994_*2996del, NM_001330252.1:c.*2995_*2996del, NM_001330252.1:c.*2996del, NM_001330252.1:c.*2996dup, NM_001330252.1:c.*2995_*2996dup, NM_001330252.1:c.*2994_*2996dup, NM_001330252.1:c.*2992_*2996dup, NM_001330252.1:c.*2991_*2996dup, NM_001330252.1:c.*2990_*2996dup, NM_001330252.1:c.*2989_*2996dup, NM_001330252.1:c.*2986_*2996dup, NM_001330252.1:c.*2984_*2996dup, NM_001353115.2:c.*2990_*2996del, NM_001353115.2:c.*2994_*2996del, NM_001353115.2:c.*2995_*2996del, NM_001353115.2:c.*2996del, NM_001353115.2:c.*2996dup, NM_001353115.2:c.*2995_*2996dup, NM_001353115.2:c.*2994_*2996dup, NM_001353115.2:c.*2992_*2996dup, NM_001353115.2:c.*2991_*2996dup, NM_001353115.2:c.*2990_*2996dup, NM_001353115.2:c.*2989_*2996dup, NM_001353115.2:c.*2986_*2996dup, NM_001353115.2:c.*2984_*2996dup, NM_001353115.1:c.*2990_*2996del, NM_001353115.1:c.*2994_*2996del, NM_001353115.1:c.*2995_*2996del, NM_001353115.1:c.*2996del, NM_001353115.1:c.*2996dup, NM_001353115.1:c.*2995_*2996dup, NM_001353115.1:c.*2994_*2996dup, NM_001353115.1:c.*2992_*2996dup, NM_001353115.1:c.*2991_*2996dup, NM_001353115.1:c.*2990_*2996dup, NM_001353115.1:c.*2989_*2996dup, NM_001353115.1:c.*2986_*2996dup, NM_001353115.1:c.*2984_*2996dup, NM_001353116.2:c.*1137_*1143del, NM_001353116.2:c.*1141_*1143del, NM_001353116.2:c.*1142_*1143del, NM_001353116.2:c.*1143del, NM_001353116.2:c.*1143dup, NM_001353116.2:c.*1142_*1143dup, NM_001353116.2:c.*1141_*1143dup, NM_001353116.2:c.*1139_*1143dup, NM_001353116.2:c.*1138_*1143dup, NM_001353116.2:c.*1137_*1143dup, NM_001353116.2:c.*1136_*1143dup, NM_001353116.2:c.*1133_*1143dup, NM_001353116.2:c.*1131_*1143dup, NM_001353116.1:c.*1137_*1143del, NM_001353116.1:c.*1141_*1143del, NM_001353116.1:c.*1142_*1143del, NM_001353116.1:c.*1143del, NM_001353116.1:c.*1143dup, NM_001353116.1:c.*1142_*1143dup, NM_001353116.1:c.*1141_*1143dup, NM_001353116.1:c.*1139_*1143dup, NM_001353116.1:c.*1138_*1143dup, NM_001353116.1:c.*1137_*1143dup, NM_001353116.1:c.*1136_*1143dup, NM_001353116.1:c.*1133_*1143dup, NM_001353116.1:c.*1131_*1143dup

Select item 149101498415.

rs1491014984 has merged into rs373010361 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 17:46974746 (GRCh38)
17:45052112 (GRCh37)
Canonical SPDI:: NC_000017.11:46974733:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:46974733:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:46974733:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:46974733:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:46974733:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:46974733:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:46974733:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.105/176 (Korea1K)
HGVS:: NC_000017.11:g.46974746_46974749del, NC_000017.11:g.46974747_46974749del, NC_000017.11:g.46974748_46974749del, NC_000017.11:g.46974749del, NC_000017.11:g.46974749dup, NC_000017.11:g.46974748_46974749dup, NC_000017.11:g.46974743_46974749dup, NC_000017.10:g.45052112_45052115del, NC_000017.10:g.45052113_45052115del, NC_000017.10:g.45052114_45052115del, NC_000017.10:g.45052115del, NC_000017.10:g.45052115dup, NC_000017.10:g.45052114_45052115dup, NC_000017.10:g.45052109_45052115dup

Select item 149099438716.

rs1490994387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:46934855 (GRCh38)
17:45012221 (GRCh37)
Canonical SPDI:: NC_000017.11:46934854:G:A
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.46934855G>A, NC_000017.10:g.45012221G>A, NG_031806.2:g.16736G>A

Select item 149095925917.

rs1490959259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:46967439 (GRCh38)
17:45044805 (GRCh37)
Canonical SPDI:: NC_000017.11:46967438:T:C
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.46967439T>C, NC_000017.10:g.45044805T>C, NG_031806.2:g.49320T>C

Select item 149093991918.

rs1490939919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:46929117 (GRCh38)
17:45006483 (GRCh37)
Canonical SPDI:: NC_000017.11:46929116:T:C
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.46929117T>C, NC_000017.10:g.45006483T>C, NG_031806.2:g.10998T>C

Select item 149088266319.

rs1490882663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:46932689 (GRCh38)
17:45010055 (GRCh37)
Canonical SPDI:: NC_000017.11:46932688:G:A
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.46932689G>A, NC_000017.10:g.45010055G>A, NG_031806.2:g.14570G>A

Select item 149069549820.

rs1490695498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:46950444 (GRCh38)
17:45027810 (GRCh37)
Canonical SPDI:: NC_000017.11:46950443:G:C
Gene:: GOSR2 (Varview), LRRC37A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.46950444G>C, NC_000017.10:g.45027810G>C, NG_031806.2:g.32325G>C, XM_011525501.4:c.*1491G>C, XM_011525501.3:c.*1491G>C, XM_011525501.2:c.*1491G>C, XM_011525501.1:c.*1491G>C, XR_934616.4:n.2210G>C, XR_934616.3:n.2237G>C, XR_934616.2:n.2262G>C, XR_934616.1:n.2256G>C, XM_017025389.2:c.*1530G>C, XM_047437114.1:c.*1530G>C, XM_047437115.1:c.*1530G>C, XM_047437112.1:c.*1530G>C, XM_047437113.1:c.*1530G>C, XR_007065552.1:n.2394G>C, XM_047437117.1:c.*1530G>C, XM_047437118.1:c.*1530G>C

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