SNP Links for Gene (Select 11318) - SNP

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Select item 14910972341.

rs1491097234 has merged into rs1356314066 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:56993091 (GRCh38)
12:57386875 (GRCh37)
Canonical SPDI:: NC_000012.12:56993081:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:56993081:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:56993081:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:56993081:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.56993091_56993092del, NC_000012.12:g.56993092del, NC_000012.12:g.56993092dup, NC_000012.12:g.56993091_56993092dup, NC_000012.11:g.57386875_57386876del, NC_000012.11:g.57386876del, NC_000012.11:g.57386876dup, NC_000012.11:g.57386875_57386876dup

Select item 14908784232.

rs1490878423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56994105 (GRCh38)
12:57387889 (GRCh37)
Canonical SPDI:: NC_000012.12:56994104:T:C
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56994105T>C, NC_000012.11:g.57387889T>C

Select item 14897677203.

rs1489767720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:56998086 (GRCh38)
12:57391871 (GRCh37)
Canonical SPDI:: NC_000012.12:56998086:AAAAAA:AAAAAAA
Gene:: GPR182 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56998092dup, NC_000012.11:g.57391876dup, NM_007264.4:c.*1668dup, XM_011537827.4:c.*861dup, XM_011537827.3:c.*861dup, XM_011537824.4:c.*638dup, XM_011537824.3:c.*638dup, XM_011537824.2:c.*638dup, XM_011537824.1:c.*638dup

Select item 14896719294.

rs1489671929 [Homo sapiens]

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

Select item 14885732975.

rs1488573297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56993936 (GRCh38)
12:57387720 (GRCh37)
Canonical SPDI:: NC_000012.12:56993935:C:T
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.56993936C>T, NC_000012.11:g.57387720C>T

Select item 14883795516.

rs1488379551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56995810 (GRCh38)
12:57389594 (GRCh37)
Canonical SPDI:: NC_000012.12:56995809:A:G
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56995810A>G, NC_000012.11:g.57389594A>G, NM_007264.4:c.601A>G, NM_007264.3:c.601A>G, XM_011537827.4:c.601A>G, XM_011537827.3:c.601A>G, XM_011537827.2:c.601A>G, XM_011537827.1:c.601A>G, XM_011537824.4:c.601A>G, XM_011537824.3:c.601A>G, XM_011537824.2:c.601A>G, XM_011537824.1:c.601A>G, XM_011537825.4:c.601A>G, XM_011537825.3:c.601A>G, XM_011537825.2:c.601A>G, XM_011537825.1:c.601A>G, XM_047428198.1:c.601A>G, NP_009195.1:p.Met201Val, XP_011536129.1:p.Met201Val, XP_011536126.1:p.Met201Val, XP_011536127.1:p.Met201Val, XP_047284154.1:p.Met201Val

Select item 14877090817.

rs1487709081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56995152 (GRCh38)
12:57388936 (GRCh37)
Canonical SPDI:: NC_000012.12:56995151:C:T
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.56995152C>T, NC_000012.11:g.57388936C>T

Select item 14875840678.

rs1487584067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56994040 (GRCh38)
12:57387824 (GRCh37)
Canonical SPDI:: NC_000012.12:56994039:G:T
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.56994040G>T, NC_000012.11:g.57387824G>T

Select item 14872223399.

rs1487222339 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:56993095 (GRCh38)
12:57386880 (GRCh37)
Canonical SPDI:: NC_000012.12:56993095:A:AA
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000625/4 (1000Genomes)
HGVS:: NC_000012.12:g.56993096dup, NC_000012.11:g.57386880dup

Select item 148702766510.

rs1487027665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:56993418 (GRCh38)
12:57387202 (GRCh37)
Canonical SPDI:: NC_000012.12:56993417:T:G
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.56993418T>G, NC_000012.11:g.57387202T>G, XR_007063333.1:n.263A>C

Select item 148695981611.

rs1486959816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56996337 (GRCh38)
12:57390121 (GRCh37)
Canonical SPDI:: NC_000012.12:56996336:C:T
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.56996337C>T, NC_000012.11:g.57390121C>T, NM_007264.4:c.1128C>T, NM_007264.3:c.1128C>T, XM_011537827.4:c.1128C>T, XM_011537827.3:c.1128C>T, XM_011537827.2:c.1128C>T, XM_011537827.1:c.1128C>T, XM_011537824.4:c.1128C>T, XM_011537824.3:c.1128C>T, XM_011537824.2:c.1128C>T, XM_011537824.1:c.1128C>T, XM_011537825.4:c.1128C>T, XM_011537825.3:c.1128C>T, XM_011537825.2:c.1128C>T, XM_011537825.1:c.1128C>T, XM_047428198.1:c.1128C>T

Select item 148639509412.

rs1486395094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56995797 (GRCh38)
12:57389581 (GRCh37)
Canonical SPDI:: NC_000012.12:56995796:G:C
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56995797G>C, NC_000012.11:g.57389581G>C, NM_007264.4:c.588G>C, NM_007264.3:c.588G>C, XM_011537827.4:c.588G>C, XM_011537827.3:c.588G>C, XM_011537827.2:c.588G>C, XM_011537827.1:c.588G>C, XM_011537824.4:c.588G>C, XM_011537824.3:c.588G>C, XM_011537824.2:c.588G>C, XM_011537824.1:c.588G>C, XM_011537825.4:c.588G>C, XM_011537825.3:c.588G>C, XM_011537825.2:c.588G>C, XM_011537825.1:c.588G>C, XM_047428198.1:c.588G>C, NP_009195.1:p.Glu196Asp, XP_011536129.1:p.Glu196Asp, XP_011536126.1:p.Glu196Asp, XP_011536127.1:p.Glu196Asp, XP_047284154.1:p.Glu196Asp

Select item 148562884213.

rs1485628842 has merged into rs35481564 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:56992411 (GRCh38)
12:57386195 (GRCh37)
Canonical SPDI:: NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:56992399:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC124902945 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.56992411_56992423del, NC_000012.12:g.56992412_56992423del, NC_000012.12:g.56992415_56992423del, NC_000012.12:g.56992416_56992423del, NC_000012.12:g.56992417_56992423del, NC_000012.12:g.56992418_56992423del, NC_000012.12:g.56992421_56992423del, NC_000012.12:g.56992422_56992423del, NC_000012.12:g.56992423del, NC_000012.12:g.56992423dup, NC_000012.12:g.56992422_56992423dup, NC_000012.12:g.56992421_56992423dup, NC_000012.12:g.56992420_56992423dup, NC_000012.12:g.56992416_56992423dup, NC_000012.12:g.56992400_56992423dup, NC_000012.11:g.57386195_57386207del, NC_000012.11:g.57386196_57386207del, NC_000012.11:g.57386199_57386207del, NC_000012.11:g.57386200_57386207del, NC_000012.11:g.57386201_57386207del, NC_000012.11:g.57386202_57386207del, NC_000012.11:g.57386205_57386207del, NC_000012.11:g.57386206_57386207del, NC_000012.11:g.57386207del, NC_000012.11:g.57386207dup, NC_000012.11:g.57386206_57386207dup, NC_000012.11:g.57386205_57386207dup, NC_000012.11:g.57386204_57386207dup, NC_000012.11:g.57386200_57386207dup, NC_000012.11:g.57386184_57386207dup

Select item 148539446114.

rs1485394461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56998218 (GRCh38)
12:57392002 (GRCh37)
Canonical SPDI:: NC_000012.12:56998217:T:C
Gene:: GPR182 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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.56998218T>C, NC_000012.11:g.57392002T>C, NM_007264.4:c.*1794T>C, XM_011537827.4:c.*987T>C, XM_011537827.3:c.*987T>C, XM_011537824.4:c.*764T>C, XM_011537824.3:c.*764T>C, XM_011537824.2:c.*764T>C, XM_011537824.1:c.*764T>C, XM_011537825.4:c.*70T>C, XM_011537825.3:c.*70T>C, XM_011537825.2:c.*70T>C, XM_011537825.1:c.*70T>C

Select item 148528891115.

rs1485288911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:56994930 (GRCh38)
12:57388714 (GRCh37)
Canonical SPDI:: NC_000012.12:56994929:C:G,NC_000012.12:56994929:C:T
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.56994930C>G, NC_000012.12:g.56994930C>T, NC_000012.11:g.57388714C>G, NC_000012.11:g.57388714C>T

Select item 148528596216.

rs1485285962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56998467 (GRCh38)
12:57392251 (GRCh37)
Canonical SPDI:: NC_000012.12:56998466:C:T
Gene:: ZBTB39 (Varview), GPR182 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.56998467C>T, NC_000012.11:g.57392251C>T

Select item 148500421817.

rs1485004218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56995532 (GRCh38)
12:57389316 (GRCh37)
Canonical SPDI:: NC_000012.12:56995531:T:C
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56995532T>C, NC_000012.11:g.57389316T>C, NM_007264.4:c.323T>C, NM_007264.3:c.323T>C, XM_011537827.4:c.323T>C, XM_011537827.3:c.323T>C, XM_011537827.2:c.323T>C, XM_011537827.1:c.323T>C, XM_011537824.4:c.323T>C, XM_011537824.3:c.323T>C, XM_011537824.2:c.323T>C, XM_011537824.1:c.323T>C, XM_011537825.4:c.323T>C, XM_011537825.3:c.323T>C, XM_011537825.2:c.323T>C, XM_011537825.1:c.323T>C, XM_047428198.1:c.323T>C, NP_009195.1:p.Val108Ala, XP_011536129.1:p.Val108Ala, XP_011536126.1:p.Val108Ala, XP_011536127.1:p.Val108Ala, XP_047284154.1:p.Val108Ala

Select item 148477979118.

rs1484779791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56996076 (GRCh38)
12:57389860 (GRCh37)
Canonical SPDI:: NC_000012.12:56996075:C:T
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.56996076C>T, NC_000012.11:g.57389860C>T, NM_007264.4:c.867C>T, NM_007264.3:c.867C>T, XM_011537827.4:c.867C>T, XM_011537827.3:c.867C>T, XM_011537827.2:c.867C>T, XM_011537827.1:c.867C>T, XM_011537824.4:c.867C>T, XM_011537824.3:c.867C>T, XM_011537824.2:c.867C>T, XM_011537824.1:c.867C>T, XM_011537825.4:c.867C>T, XM_011537825.3:c.867C>T, XM_011537825.2:c.867C>T, XM_011537825.1:c.867C>T, XM_047428198.1:c.867C>T

Select item 148413610619.

rs1484136106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56998343 (GRCh38)
12:57392127 (GRCh37)
Canonical SPDI:: NC_000012.12:56998342:G:A
Gene:: ZBTB39 (Varview), GPR182 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.56998343G>A, NC_000012.11:g.57392127G>A, NM_007264.4:c.*1919G>A, XM_011537827.4:c.*1112G>A, XM_011537827.3:c.*1112G>A, XM_011537824.4:c.*889G>A, XM_011537824.3:c.*889G>A, XM_011537824.2:c.*889G>A, XM_011537824.1:c.*889G>A, XM_011537825.4:c.*195G>A, XM_011537825.3:c.*195G>A, XM_011537825.2:c.*195G>A, XM_011537825.1:c.*195G>A

Select item 148375250320.

rs1483752503 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGTGAGGGAGGAGC>- [Show Flanks]
Chromosome:: 12:56994354 (GRCh38)
12:57388138 (GRCh37)
Canonical SPDI:: NC_000012.12:56994350:AGCGGGTGAGGGAGGAGC:AGC
Gene:: GPR182 (Varview), LOC124902945 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56994354_56994368del, NC_000012.11:g.57388138_57388152del

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