SNP Links for Gene (Select 29774) - SNP

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Select item 14914209221.

rs1491420922 has merged into rs71189240 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 22:24264823 (GRCh38)
22:24660791 (GRCh37)
Canonical SPDI:: NC_000022.11:24264813:TTTTTTTTTTT:TTTTTTTTT,NC_000022.11:24264813:TTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:24264813:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:24264813:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:24264813:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:24264813:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: POM121L9P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4545/2276 (1000Genomes)
HGVS:: NC_000022.11:g.24264823_24264824del, NC_000022.11:g.24264824del, NC_000022.11:g.24264824dup, NC_000022.11:g.24264823_24264824dup, NC_000022.11:g.24264822_24264824dup, NC_000022.11:g.24264817_24264824dup, NC_000022.10:g.24660791_24660792del, NC_000022.10:g.24660792del, NC_000022.10:g.24660792dup, NC_000022.10:g.24660791_24660792dup, NC_000022.10:g.24660790_24660792dup, NC_000022.10:g.24660785_24660792dup, NR_003714.1:n.4523_4524del, NR_003714.1:n.4524del, NR_003714.1:n.4524dup, NR_003714.1:n.4523_4524dup, NR_003714.1:n.4522_4524dup, NR_003714.1:n.4517_4524dup, NM_014549.1:c.*2852_*2853del, NM_014549.1:c.*2853del, NM_014549.1:c.*2853dup, NM_014549.1:c.*2852_*2853dup, NM_014549.1:c.*2851_*2853dup, NM_014549.1:c.*2846_*2853dup

Select item 14912637502.

rs1491263750 has merged into rs576829756 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 22:24265102 (GRCh38)
22:24661070 (GRCh37)
Canonical SPDI:: NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:24265092:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: POM121L9P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.11901/596 (1000Genomes)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000022.11:g.24265102_24265108del, NC_000022.11:g.24265103_24265108del, NC_000022.11:g.24265104_24265108del, NC_000022.11:g.24265105_24265108del, NC_000022.11:g.24265106_24265108del, NC_000022.11:g.24265107_24265108del, NC_000022.11:g.24265108del, NC_000022.11:g.24265108dup, NC_000022.11:g.24265107_24265108dup, NC_000022.10:g.24661070_24661076del, NC_000022.10:g.24661071_24661076del, NC_000022.10:g.24661072_24661076del, NC_000022.10:g.24661073_24661076del, NC_000022.10:g.24661074_24661076del, NC_000022.10:g.24661075_24661076del, NC_000022.10:g.24661076del, NC_000022.10:g.24661076dup, NC_000022.10:g.24661075_24661076dup, NR_003714.1:n.4802_4808del, NR_003714.1:n.4803_4808del, NR_003714.1:n.4804_4808del, NR_003714.1:n.4805_4808del, NR_003714.1:n.4806_4808del, NR_003714.1:n.4807_4808del, NR_003714.1:n.4808del, NR_003714.1:n.4808dup, NR_003714.1:n.4807_4808dup, NM_014549.1:c.*3131_*3137del, NM_014549.1:c.*3132_*3137del, NM_014549.1:c.*3133_*3137del, NM_014549.1:c.*3134_*3137del, NM_014549.1:c.*3135_*3137del, NM_014549.1:c.*3136_*3137del, NM_014549.1:c.*3137del, NM_014549.1:c.*3137dup, NM_014549.1:c.*3136_*3137dup

Select item 14911897013.

rs1491189701 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:24264814 (GRCh38)
22:24660783 (GRCh37)
Canonical SPDI:: NC_000022.11:24264814::A
Gene:: POM121L9P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00021/3 (ALFA)
A=0.00011/3 (GnomAD)
HGVS:: NC_000022.11:g.24264814_24264815insA, NC_000022.10:g.24660782_24660783insA, NR_003714.1:n.4514_4515insA, NM_014549.1:c.*2843_*2844insA

Select item 14907592584.

rs1490759258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24260877 (GRCh38)
22:24656845 (GRCh37)
Canonical SPDI:: NC_000022.11:24260876:A:G
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24260877A>G, NC_000022.10:g.24656845A>G, NG_009423.2:g.2989T>C

Select item 14906042545.

rs1490604254 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTG>- [Show Flanks]
Chromosome:: 22:24259336 (GRCh38)
22:24655304 (GRCh37)
Canonical SPDI:: NC_000022.11:24259335:TCTG:
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00064/11 (TOMMO)
HGVS:: NC_000022.11:g.24259336_24259339del, NC_000022.10:g.24655304_24655307del, NG_009423.2:g.4527_4530del

Select item 14902772096.

rs1490277209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:24260343 (GRCh38)
22:24656311 (GRCh37)
Canonical SPDI:: NC_000022.11:24260342:T:C,NC_000022.11:24260342:T:G
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24260343T>C, NC_000022.11:g.24260343T>G, NC_000022.10:g.24656311T>C, NC_000022.10:g.24656311T>G, NG_009423.2:g.3523A>G, NG_009423.2:g.3523A>C

Select item 14902435567.

rs1490243556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:24260548 (GRCh38)
22:24656516 (GRCh37)
Canonical SPDI:: NC_000022.11:24260547:C:A
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24260548C>A, NC_000022.10:g.24656516C>A, NG_009423.2:g.3318G>T

Select item 14901510058.

rs1490151005 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:24255172 (GRCh38)
22:24651140 (GRCh37)
Canonical SPDI:: NC_000022.11:24255171:T:C
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000022.11:g.24255172T>C, NC_000022.10:g.24651140T>C

Select item 14901252709.

rs1490125270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24255259 (GRCh38)
22:24651227 (GRCh37)
Canonical SPDI:: NC_000022.11:24255258:C:T
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_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_000022.11:g.24255259C>T, NC_000022.10:g.24651227C>T

Select item 149002637110.

rs1490026371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:24251210 (GRCh38)
22:24647178 (GRCh37)
Canonical SPDI:: NC_000022.11:24251209:T:A,NC_000022.11:24251209:T:C
Gene:: POM121L9P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000022.11:g.24251210T>A, NC_000022.11:g.24251210T>C, NC_000022.10:g.24647178T>A, NC_000022.10:g.24647178T>C

Select item 149001419311.

rs1490014193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24255575 (GRCh38)
22:24651543 (GRCh37)
Canonical SPDI:: NC_000022.11:24255574:A:G
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.24255575A>G, NC_000022.10:g.24651543A>G

Select item 148977864912.

rs1489778649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:24251827 (GRCh38)
22:24647795 (GRCh37)
Canonical SPDI:: NC_000022.11:24251826:C:G,NC_000022.11:24251826:C:T
Gene:: POM121L9P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00418/66 (ALFA)
G=0.00002/1 (GnomAD)
T=0.01421/237 (TOMMO)
T=0.01492/43 (KOREAN)
HGVS:: NC_000022.11:g.24251827C>G, NC_000022.11:g.24251827C>T, NC_000022.10:g.24647795C>G, NC_000022.10:g.24647795C>T, NR_003714.1:n.207C>G, NR_003714.1:n.207C>T

Select item 148951798413.

rs1489517984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:24257113 (GRCh38)
22:24653081 (GRCh37)
Canonical SPDI:: NC_000022.11:24257112:T:G
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_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_000022.11:g.24257113T>G, NC_000022.10:g.24653081T>G

Select item 148897737514.

rs1488977375 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 22:24257073 (GRCh38)
22:24653041 (GRCh37)
Canonical SPDI:: NC_000022.11:24257072:C:
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.24257073del, NC_000022.10:g.24653041del

Select item 148890342115.

rs1488903421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:24252599 (GRCh38)
22:24648567 (GRCh37)
Canonical SPDI:: NC_000022.11:24252598:A:G
Gene:: POM121L9P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000073/10 (GnomAD)
G=0.000132/35 (TOPMED)
G=0.000156/1 (1000Genomes)
G=0.000212/4 (TOMMO)
G=0.000266/15 (GnomAD_exomes)
G=0.000343/1 (KOREAN)
G=0.001639/3 (Korea1K)
HGVS:: NC_000022.11:g.24252599A>G, NC_000022.10:g.24648567A>G, NR_003714.1:n.979A>G, NM_014549.1:c.595A>G

Select item 148877177916.

rs1488771779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24251124 (GRCh38)
22:24647092 (GRCh37)
Canonical SPDI:: NC_000022.11:24251123:C:T
Gene:: POM121L9P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.24251124C>T, NC_000022.10:g.24647092C>T

Select item 148853900917.

rs1488539009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:24256462 (GRCh38)
22:24652430 (GRCh37)
Canonical SPDI:: NC_000022.11:24256461:G:C
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.24256462G>C, NC_000022.10:g.24652430G>C

Select item 148848152318.

rs1488481523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:24250340 (GRCh38)
22:24646308 (GRCh37)
Canonical SPDI:: NC_000022.11:24250339:G:A
Gene:: POM121L9P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000098/26 (TOPMED)
HGVS:: NC_000022.11:g.24250340G>A, NC_000022.10:g.24646308G>A

Select item 148788153719.

rs1487881537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:24257672 (GRCh38)
22:24653640 (GRCh37)
Canonical SPDI:: NC_000022.11:24257671:C:G,NC_000022.11:24257671:C:T
Gene:: POM121L9P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
G=0.000071/2 (TOMMO)
T=0.000742/104 (GnomAD)
T=0.001093/7 (1000Genomes)
HGVS:: NC_000022.11:g.24257672C>G, NC_000022.11:g.24257672C>T, NC_000022.10:g.24653640C>G, NC_000022.10:g.24653640C>T, NG_009423.2:g.6194G>C, NG_009423.2:g.6194G>A

Select item 148769960620.

rs1487699606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:24264670 (GRCh38)
22:24660638 (GRCh37)
Canonical SPDI:: NC_000022.11:24264669:C:T
Gene:: POM121L9P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.24264670C>T, NC_000022.10:g.24660638C>T, NR_003714.1:n.4370C>T, NM_014549.1:c.*2699C>T