SNP Links for Gene (Select 91298) - SNP

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Select item 14915492011.

rs1491549201 has merged into rs1164161395 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:88038102 (GRCh38)
12:88431879 (GRCh37)
Canonical SPDI:: NC_000012.12:88038101:AAAAAAA:AAAAAA,NC_000012.12:88038101:AAAAAAA:AAAAAAAA
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.88038108del, NC_000012.12:g.88038108dup, NC_000012.11:g.88431885del, NC_000012.11:g.88431885dup

Select item 14914982002.

rs1491498200 has merged into rs66547896 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:88040806 (GRCh38)
12:88434583 (GRCh37)
Canonical SPDI:: NC_000012.12:88040796:TTTTTTTTTTT:TTTTTTTTT,NC_000012.12:88040796:TTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:88040796:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:88040796:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:88040796:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:88040796:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.008734/16 (Korea1K)
T=0.021667/13 (NorthernSweden)
T=0.025/1 (GENOME_DK)
T=0.04509/45 (GoNL)
T=0.052413/202 (ALSPAC)
T=0.055556/206 (TWINSUK)
T=0.132417/663 (1000Genomes)
T=0.135219/35791 (TOPMED)
HGVS:: NC_000012.12:g.88040806_88040807del, NC_000012.12:g.88040807del, NC_000012.12:g.88040807dup, NC_000012.12:g.88040806_88040807dup, NC_000012.12:g.88040801_88040807dup, NC_000012.12:g.88040807_88040808insTTTTTTTTTTTT, NC_000012.11:g.88434583_88434584del, NC_000012.11:g.88434584del, NC_000012.11:g.88434584dup, NC_000012.11:g.88434583_88434584dup, NC_000012.11:g.88434578_88434584dup, NC_000012.11:g.88434584_88434585insTTTTTTTTTTTT

Select item 14912909053.

rs1491290905 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:88040796 (GRCh38)
12:88434573 (GRCh37)
Canonical SPDI:: NC_000012.12:88040795:AT:
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.88040796_88040797del, NC_000012.11:g.88434573_88434574del

Select item 14907454804.

rs1490745480 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:88045579 (GRCh38)
12:88439356 (GRCh37)
Canonical SPDI:: NC_000012.12:88045578:T:C
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.88045579T>C, NC_000012.11:g.88439356T>C

Select item 14906875325.

rs1490687532 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:88046635 (GRCh38)
12:88440412 (GRCh37)
Canonical SPDI:: NC_000012.12:88046632:AGAG:AG
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.88046633AG[1], NC_000012.11:g.88440410AG[1]

Select item 14905817156.

rs1490581715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:88045083 (GRCh38)
12:88438860 (GRCh37)
Canonical SPDI:: NC_000012.12:88045082:C:G
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.88045083C>G, NC_000012.11:g.88438860C>G

Select item 14905564157.

rs1490556415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:88045161 (GRCh38)
12:88438938 (GRCh37)
Canonical SPDI:: NC_000012.12:88045160:G:A
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_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_000012.12:g.88045161G>A, NC_000012.11:g.88438938G>A

Select item 14902535168.

rs1490253516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:88046082 (GRCh38)
12:88439859 (GRCh37)
Canonical SPDI:: NC_000012.12:88046081:G:A
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.88046082G>A, NC_000012.11:g.88439859G>A

Select item 14901307929.

rs1490130792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:88038672 (GRCh38)
12:88432449 (GRCh37)
Canonical SPDI:: NC_000012.12:88038671:T:C
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_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.88038672T>C, NC_000012.11:g.88432449T>C

Select item 148996824710.

rs1489968247 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:88038136 (GRCh38)
12:88431914 (GRCh37)
Canonical SPDI:: NC_000012.12:88038136:A:AA
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.88038137dup, NC_000012.11:g.88431914dup

Select item 148992036411.

rs1489920364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:88037842 (GRCh38)
12:88431619 (GRCh37)
Canonical SPDI:: NC_000012.12:88037841:T:A,NC_000012.12:88037841:T:C,NC_000012.12:88037841:T:G
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.88037842T>A, NC_000012.12:g.88037842T>C, NC_000012.12:g.88037842T>G, NC_000012.11:g.88431619T>A, NC_000012.11:g.88431619T>C, NC_000012.11:g.88431619T>G

Select item 148991222612.

rs1489912226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:88037121 (GRCh38)
12:88430898 (GRCh37)
Canonical SPDI:: NC_000012.12:88037120:A:G
Gene:: C12orf29 (Varview), LOC107984542 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.88037121A>G, NC_000012.11:g.88430898A>G

Select item 148972601213.

rs1489726012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:88035615 (GRCh38)
12:88429392 (GRCh37)
Canonical SPDI:: NC_000012.12:88035614:A:G
Gene:: C12orf29 (Varview), LOC107984542 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_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_000012.12:g.88035615A>G, NC_000012.11:g.88429392A>G, NM_001009894.3:c.-34A>G, NM_001009894.2:c.-34A>G

Select item 148936103714.

rs1489361037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:88044212 (GRCh38)
12:88437989 (GRCh37)
Canonical SPDI:: NC_000012.12:88044211:C:T
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.88044212C>T, NC_000012.11:g.88437989C>T

Select item 148930968015.

rs1489309680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:88048549 (GRCh38)
12:88442326 (GRCh37)
Canonical SPDI:: NC_000012.12:88048548:T:C
Gene:: CEP290 (Varview), C12orf29 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.88048549T>C, NC_000012.11:g.88442326T>C, NG_008417.2:g.98668A>G, NM_001009894.3:c.*127T>C, NM_001009894.2:c.*127T>C

Select item 148878515816.

rs1488785158 [Homo sapiens]

Variant type:: DEL
Alleles:: TGGC>- [Show Flanks]
Chromosome:: 12:88046981 (GRCh38)
12:88440758 (GRCh37)
Canonical SPDI:: NC_000012.12:88046980:TGGC:
Gene:: C12orf29 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000012.12:g.88046981_88046984del, NC_000012.11:g.88440758_88440761del

Select item 148871153717.

rs1488711537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:88035432 (GRCh38)
12:88429209 (GRCh37)
Canonical SPDI:: NC_000012.12:88035431:C:T
Gene:: C12orf29 (Varview), LOC107984542 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.88035432C>T, NC_000012.11:g.88429209C>T, XR_007063395.1:n.65G>A, XR_007063394.1:n.65G>A

Select item 148766273018.

rs1487662730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:88036009 (GRCh38)
12:88429786 (GRCh37)
Canonical SPDI:: NC_000012.12:88036008:A:G
Gene:: C12orf29 (Varview), LOC107984542 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.88036009A>G, NC_000012.11:g.88429786A>G

Select item 148733576219.

rs1487335762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:88050622 (GRCh38)
12:88444399 (GRCh37)
Canonical SPDI:: NC_000012.12:88050621:T:C
Gene:: CEP290 (Varview), C12orf29 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.88050622T>C, NC_000012.11:g.88444399T>C, NG_008417.2:g.96595A>G

Select item 148700818720.

rs1487008187 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:88045728 (GRCh38)
12:88439505 (GRCh37)
Canonical SPDI:: NC_000012.12:88045727:T:G
Gene:: C12orf29 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.88045728T>G, NC_000012.11:g.88439505T>G, NM_001009894.3:c.568T>G, NM_001009894.2:c.568T>G, NP_001009894.2:p.Leu190Val

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