SNP Links for Gene (Select 130497) - SNP

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Select item 14910154701.

rs1491015470 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 2:19354392 (GRCh38)
2:19554154 (GRCh37)
Canonical SPDI:: NC_000002.12:19354392:A:AAA
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
AA=0.00019/14 (GnomAD)
HGVS:: NC_000002.12:g.19354393_19354394insAA, NC_000002.11:g.19554154_19554155insAA

Select item 14904222332.

rs1490422233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:19356760 (GRCh38)
2:19556521 (GRCh37)
Canonical SPDI:: NC_000002.12:19356759:C:T
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.19356760C>T, NC_000002.11:g.19556521C>T

Select item 14903715093.

rs1490371509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACTGCGCCAAGCTCGGGTC [Show Flanks]
Chromosome:: 2:19355783 (GRCh38)
2:19555545 (GRCh37)
Canonical SPDI:: NC_000002.12:19355783:TCTACTGCGCCAAGCTCGGGTC:TCTACTGCGCCAAGCTCGGGTCTACTGCGCCAAGCTCGGGTC
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTACTGCGCCAAGCTCGGGTCTACTGCGCCAAGCTCGGGTC=0./0 (ALFA)
TCTACTGCGCCAAGCTCGGG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19355786_19355805dup, NC_000002.11:g.19555547_19555566dup

Select item 14898822174.

rs1489882217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:19355338 (GRCh38)
2:19555099 (GRCh37)
Canonical SPDI:: NC_000002.12:19355337:C:A,NC_000002.12:19355337:C:T
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000002.12:g.19355338C>A, NC_000002.12:g.19355338C>T, NC_000002.11:g.19555099C>A, NC_000002.11:g.19555099C>T

Select item 14890569685.

rs1489056968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:19358533 (GRCh38)
2:19558294 (GRCh37)
Canonical SPDI:: NC_000002.12:19358532:G:A,NC_000002.12:19358532:G:C,NC_000002.12:19358532:G:T
Gene:: OSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.19358533G>A, NC_000002.12:g.19358533G>C, NC_000002.12:g.19358533G>T, NC_000002.11:g.19558294G>A, NC_000002.11:g.19558294G>C, NC_000002.11:g.19558294G>T, NM_145260.3:c.-225C>T, NM_145260.3:c.-225C>G, NM_145260.3:c.-225C>A, NM_145260.2:c.-225C>T, NM_145260.2:c.-225C>G, NM_145260.2:c.-225C>A, XR_007069636.1:n.91C>T, XR_007069636.1:n.91C>G, XR_007069636.1:n.91C>A, XR_007069638.1:n.91C>T, XR_007069638.1:n.91C>G, XR_007069638.1:n.91C>A, XR_007069637.1:n.91C>T, XR_007069637.1:n.91C>G, XR_007069637.1:n.91C>A

Select item 14890219146.

rs1489021914 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAG>- [Show Flanks]
Chromosome:: 2:19357752 (GRCh38)
2:19557513 (GRCh37)
Canonical SPDI:: NC_000002.12:19357749:AGTTAG:AG
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000076/20 (TOPMED)
HGVS:: NC_000002.12:g.19357752_19357755del, NC_000002.11:g.19557513_19557516del, XM_006711942.5:c.-595_-592del, XM_006711942.4:c.-595_-592del, XM_006711942.3:c.-595_-592del, XM_006711942.2:c.-595_-592del

Select item 14887662877.

rs1488766287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:19358072 (GRCh38)
2:19557833 (GRCh37)
Canonical SPDI:: NC_000002.12:19358071:G:T
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.19358072G>T, NC_000002.11:g.19557833G>T, XM_006711942.5:c.-914C>A, XM_006711942.4:c.-914C>A, XM_006711942.3:c.-914C>A, XM_006711942.2:c.-914C>A

Select item 14881970428.

rs1488197042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:19352011 (GRCh38)
2:19551772 (GRCh37)
Canonical SPDI:: NC_000002.12:19352010:T:A
Gene:: OSR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.19352011T>A, NC_000002.11:g.19551772T>A, XM_006711942.5:c.*264A>T, XM_006711942.4:c.*264A>T, XM_006711942.3:c.*264A>T, XM_006711942.2:c.*264A>T, XM_006711942.1:c.*264A>T, NM_145260.3:c.*264A>T, NM_145260.2:c.*264A>T, XR_007069636.1:n.1380A>T, XR_007069638.1:n.1380A>T, XR_007069637.1:n.1380A>T

Select item 14881252799.

rs1488125279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:19360112 (GRCh38)
2:19559873 (GRCh37)
Canonical SPDI:: NC_000002.12:19360111:G:A,NC_000002.12:19360111:G:C
Gene:: OSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.19360112G>A, NC_000002.12:g.19360112G>C, NC_000002.11:g.19559873G>A, NC_000002.11:g.19559873G>C

Select item 148778744510.

rs1487787445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:19357617 (GRCh38)
2:19557378 (GRCh37)
Canonical SPDI:: NC_000002.12:19357616:A:C
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.19357617A>C, NC_000002.11:g.19557378A>C, XM_006711942.5:c.-459T>G, XM_006711942.4:c.-459T>G, XM_006711942.3:c.-459T>G, XM_006711942.2:c.-459T>G

Select item 148761182111.

rs1487611821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:19359822 (GRCh38)
2:19559583 (GRCh37)
Canonical SPDI:: NC_000002.12:19359821:T:A
Gene:: OSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19359822T>A, NC_000002.11:g.19559583T>A

Select item 148698208612.

rs1486982086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:19358828 (GRCh38)
2:19558589 (GRCh37)
Canonical SPDI:: NC_000002.12:19358827:C:A,NC_000002.12:19358827:C:G
Gene:: OSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.19358828C>A, NC_000002.12:g.19358828C>G, NC_000002.11:g.19558589C>A, NC_000002.11:g.19558589C>G

Select item 148684731213.

rs1486847312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:19359720 (GRCh38)
2:19559481 (GRCh37)
Canonical SPDI:: NC_000002.12:19359719:G:C
Gene:: OSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.19359720G>C, NC_000002.11:g.19559481G>C

Select item 148679131014.

rs1486791310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:19358782 (GRCh38)
2:19558543 (GRCh37)
Canonical SPDI:: NC_000002.12:19358781:G:A,NC_000002.12:19358781:G:C
Gene:: OSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000002.12:g.19358782G>A, NC_000002.12:g.19358782G>C, NC_000002.11:g.19558543G>A, NC_000002.11:g.19558543G>C

Select item 148660801515.

rs1486608015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:19353523 (GRCh38)
2:19553284 (GRCh37)
Canonical SPDI:: NC_000002.12:19353522:C:T
Gene:: OSR1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.19353523C>T, NC_000002.11:g.19553284C>T, XM_006711942.5:c.283G>A, XM_006711942.4:c.283G>A, XM_006711942.3:c.283G>A, XM_006711942.2:c.283G>A, XM_006711942.1:c.283G>A, NM_145260.3:c.283G>A, NM_145260.2:c.283G>A, XR_007069636.1:n.598G>A, XR_007069638.1:n.598G>A, XR_007069637.1:n.598G>A, XP_006712005.1:p.Val95Ile, NP_660303.1:p.Val95Ile

Select item 148648360416.

rs1486483604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:19359046 (GRCh38)
2:19558807 (GRCh37)
Canonical SPDI:: NC_000002.12:19359045:C:T
Gene:: OSR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.19359046C>T, NC_000002.11:g.19558807C>T

Select item 148631185517.

rs1486311855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:19357083 (GRCh38)
2:19556844 (GRCh37)
Canonical SPDI:: NC_000002.12:19357082:A:G
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19357083A>G, NC_000002.11:g.19556844A>G

Select item 148626462718.

rs1486264627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:19356088 (GRCh38)
2:19555849 (GRCh37)
Canonical SPDI:: NC_000002.12:19356087:C:T
Gene:: OSR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.19356088C>T, NC_000002.11:g.19555849C>T

Select item 148622553019.

rs1486225530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:19351605 (GRCh38)
2:19551366 (GRCh37)
Canonical SPDI:: NC_000002.12:19351604:C:T
Gene:: OSR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.19351605C>T, NC_000002.11:g.19551366C>T, XM_006711942.5:c.*670G>A, XM_006711942.4:c.*670G>A, XM_006711942.3:c.*670G>A, XM_006711942.2:c.*670G>A, XM_006711942.1:c.*670G>A, NM_145260.3:c.*670G>A, NM_145260.2:c.*670G>A, XR_007069636.1:n.1786G>A, XR_007069638.1:n.1786G>A, XR_007069637.1:n.1786G>A

Select item 148617127720.

rs1486171277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:19351317 (GRCh38)
2:19551078 (GRCh37)
Canonical SPDI:: NC_000002.12:19351316:A:G
Gene:: OSR1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19351317A>G, NC_000002.11:g.19551078A>G, XR_007069636.1:n.2074T>C, XR_007069638.1:n.2074T>C, XR_007069637.1:n.2074T>C

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