SNP Links for Gene (Select 285800) - SNP

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Select item 14912738761.

rs1491273876 has merged into rs10679158 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 6:166306182 (GRCh38)
6:166719670 (GRCh37)
Canonical SPDI:: NC_000006.12:166306168:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000006.12:166306168:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000006.12:166306168:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000006.12:166306168:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000006.12:166306168:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:166306168:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000006.12:166306168:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
AG=0.4247/2127 (1000Genomes)
-=0.4333/260 (NorthernSweden)
AG=0.486/485 (GoNL)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000006.12:g.166306170GA[6], NC_000006.12:g.166306170GA[7], NC_000006.12:g.166306170GA[8], NC_000006.12:g.166306170GA[9], NC_000006.12:g.166306170GA[11], NC_000006.12:g.166306170GA[12], NC_000006.12:g.166306170GA[13], NC_000006.11:g.166719658GA[6], NC_000006.11:g.166719658GA[7], NC_000006.11:g.166719658GA[8], NC_000006.11:g.166719658GA[9], NC_000006.11:g.166719658GA[11], NC_000006.11:g.166719658GA[12], NC_000006.11:g.166719658GA[13], NM_175922.4:c.*1067CT[6], NM_175922.4:c.*1067CT[7], NM_175922.4:c.*1067CT[8], NM_175922.4:c.*1067CT[9], NM_175922.4:c.*1067CT[11], NM_175922.4:c.*1067CT[12], NM_175922.4:c.*1067CT[13], NM_175922.3:c.*1067CT[6], NM_175922.3:c.*1067CT[7], NM_175922.3:c.*1067CT[8], NM_175922.3:c.*1067CT[9], NM_175922.3:c.*1067CT[11], NM_175922.3:c.*1067CT[12], NM_175922.3:c.*1067CT[13]

Select item 14908024672.

rs1490802467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166309790 (GRCh38)
6:166723278 (GRCh37)
Canonical SPDI:: NC_000006.12:166309789:C:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.166309790C>T, NC_000006.11:g.166723278C>T, XR_001744464.2:n.245C>T, XR_001744464.1:n.144C>T, XR_007059864.1:n.294C>T

Select item 14889890633.

rs1488989063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166307384 (GRCh38)
6:166720872 (GRCh37)
Canonical SPDI:: NC_000006.12:166307383:C:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000006.12:g.166307384C>T, NC_000006.11:g.166720872C>T, NM_175922.4:c.759G>A, NM_175922.3:c.759G>A

Select item 14882162594.

rs1488216259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:166310227 (GRCh38)
6:166723715 (GRCh37)
Canonical SPDI:: NC_000006.12:166310226:A:G,NC_000006.12:166310226:A:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.166310227A>G, NC_000006.12:g.166310227A>T, NC_000006.11:g.166723715A>G, NC_000006.11:g.166723715A>T

Select item 14879033845.

rs1487903384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:166307787 (GRCh38)
6:166721275 (GRCh37)
Canonical SPDI:: NC_000006.12:166307786:G:A,NC_000006.12:166307786:G:C
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166307787G>A, NC_000006.12:g.166307787G>C, NC_000006.11:g.166721275G>A, NC_000006.11:g.166721275G>C, NM_175922.4:c.356C>T, NM_175922.4:c.356C>G, NM_175922.3:c.356C>T, NM_175922.3:c.356C>G, NP_787118.2:p.Ala119Val, NP_787118.2:p.Ala119Gly

Select item 14876175466.

rs1487617546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:166306920 (GRCh38)
6:166720408 (GRCh37)
Canonical SPDI:: NC_000006.12:166306919:A:G
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166306920A>G, NC_000006.11:g.166720408A>G, NM_175922.4:c.*335T>C, NM_175922.3:c.*335T>C

Select item 14872020277.

rs1487202027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:166309176 (GRCh38)
6:166722664 (GRCh37)
Canonical SPDI:: NC_000006.12:166309175:T:C
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.166309176T>C, NC_000006.11:g.166722664T>C

Select item 14867994988.

rs1486799498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:166307786 (GRCh38)
6:166721274 (GRCh37)
Canonical SPDI:: NC_000006.12:166307785:C:G,NC_000006.12:166307785:C:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.166307786C>G, NC_000006.12:g.166307786C>T, NC_000006.11:g.166721274C>G, NC_000006.11:g.166721274C>T, NM_175922.4:c.357G>C, NM_175922.4:c.357G>A, NM_175922.3:c.357G>C, NM_175922.3:c.357G>A

Select item 14865836909.

rs1486583690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:166309155 (GRCh38)
6:166722643 (GRCh37)
Canonical SPDI:: NC_000006.12:166309154:G:A,NC_000006.12:166309154:G:C
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.166309155G>A, NC_000006.12:g.166309155G>C, NC_000006.11:g.166722643G>A, NC_000006.11:g.166722643G>C

Select item 148655186810.

rs1486551868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:166310089 (GRCh38)
6:166723577 (GRCh37)
Canonical SPDI:: NC_000006.12:166310088:G:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.166310089G>T, NC_000006.11:g.166723577G>T

Select item 148595058111.

rs1485950581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:166307001 (GRCh38)
6:166720489 (GRCh37)
Canonical SPDI:: NC_000006.12:166307000:G:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.166307001G>T, NC_000006.11:g.166720489G>T, NM_175922.4:c.*254C>A, NM_175922.3:c.*254C>A

Select item 148562105612.

rs1485621056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:166306656 (GRCh38)
6:166720144 (GRCh37)
Canonical SPDI:: NC_000006.12:166306655:A:G
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.166306656A>G, NC_000006.11:g.166720144A>G, NM_175922.4:c.*599T>C, NM_175922.3:c.*599T>C

Select item 148486857813.

rs1484868578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:166306282 (GRCh38)
6:166719770 (GRCh37)
Canonical SPDI:: NC_000006.12:166306281:G:C
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.166306282G>C, NC_000006.11:g.166719770G>C, NM_175922.4:c.*973C>G, NM_175922.3:c.*973C>G

Select item 148459363514.

rs1484593635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:166305566 (GRCh38)
6:166719054 (GRCh37)
Canonical SPDI:: NC_000006.12:166305565:A:G
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.166305566A>G, NC_000006.11:g.166719054A>G, NM_175922.4:c.*1689T>C

Select item 148399121615.

rs1483991216 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:166305313 (GRCh38)
6:166718801 (GRCh37)
Canonical SPDI:: NC_000006.12:166305309:TCTCT:TCT
Gene:: PRR18 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000106/28 (TOPMED)
-=0.000128/18 (GnomAD)
HGVS:: NC_000006.12:g.166305311CT[1], NC_000006.11:g.166718799CT[1], NM_175922.4:c.*1942GA[1]

Select item 148354363016.

rs1483543630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:166307265 (GRCh38)
6:166720753 (GRCh37)
Canonical SPDI:: NC_000006.12:166307264:C:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_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)
T=0.000019/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.166307265C>T, NC_000006.11:g.166720753C>T, NM_175922.4:c.878G>A, NM_175922.3:c.878G>A, NP_787118.2:p.Ser293Asn

Select item 148351414617.

rs1483514146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:166307594 (GRCh38)
6:166721082 (GRCh37)
Canonical SPDI:: NC_000006.12:166307593:G:C,NC_000006.12:166307593:G:T
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.166307594G>C, NC_000006.12:g.166307594G>T, NC_000006.11:g.166721082G>C, NC_000006.11:g.166721082G>T, NM_175922.4:c.549C>G, NM_175922.4:c.549C>A, NM_175922.3:c.549C>G, NM_175922.3:c.549C>A, XR_001744464.2:n.47G>C, XR_001744464.2:n.47G>T

Select item 148348404218.

rs1483484042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:166308204 (GRCh38)
6:166721692 (GRCh37)
Canonical SPDI:: NC_000006.12:166308203:G:A
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.166308204G>A, NC_000006.11:g.166721692G>A, NM_175922.4:c.-62C>T, NM_175922.3:c.-62C>T

Select item 148286880419.

rs1482868804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:166306990 (GRCh38)
6:166720478 (GRCh37)
Canonical SPDI:: NC_000006.12:166306989:G:A
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.166306990G>A, NC_000006.11:g.166720478G>A, NM_175922.4:c.*265C>T, NM_175922.3:c.*265C>T

Select item 148269217120.

rs1482692171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:166307551 (GRCh38)
6:166721039 (GRCh37)
Canonical SPDI:: NC_000006.12:166307550:G:C
Gene:: PRR18 (Varview), LOC107986669 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000006.12:g.166307551G>C, NC_000006.11:g.166721039G>C, NM_175922.4:c.592C>G, NM_175922.3:c.592C>G, XR_001744464.2:n.4G>C, NP_787118.2:p.Pro198Ala

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