SNP Links for Gene (Select 11010) - SNP

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Select item 14915757061.

rs1491575706 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:75480295 (GRCh38)
12:75874076 (GRCh37)
Canonical SPDI:: NC_000012.12:75480295::C
Gene:: GLIPR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000071/1 (TOMMO)
C=0.001672/192 (GnomAD)
HGVS:: NC_000012.12:g.75480295_75480296insC, NC_000012.11:g.75874075_75874076insC

Select item 14915598212.

rs1491559821 [Homo sapiens]

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

Select item 14915298683.

rs1491529868 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:75497905 (GRCh38)
12:75891685 (GRCh37)
Canonical SPDI:: NC_000012.12:75497903:ATA:A
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.75497905_75497906del, NC_000012.11:g.75891685_75891686del, NM_007043.7:c.*1904_*1905del, NM_007043.6:c.*1904_*1905del, XM_047428133.1:c.*1904_*1905del

Select item 14915036644.

rs1491503664 has merged into rs55774067 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:75490591 (GRCh38)
12:75884371 (GRCh37)
Canonical SPDI:: NC_000012.12:75490583:AAAAAAAAA:AAAAAAA,NC_000012.12:75490583:AAAAAAAAA:AAAAAAAA,NC_000012.12:75490583:AAAAAAAAA:AAAAAAAAAA,NC_000012.12:75490583:AAAAAAAAA:AAAAAAAAAAA
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.75490591_75490592del, NC_000012.12:g.75490592del, NC_000012.12:g.75490592dup, NC_000012.12:g.75490591_75490592dup, NC_000012.11:g.75884371_75884372del, NC_000012.11:g.75884372del, NC_000012.11:g.75884372dup, NC_000012.11:g.75884371_75884372dup

Select item 14914733125.

rs1491473312 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 12:75490566 (GRCh38)
12:75884346 (GRCh37)
Canonical SPDI:: NC_000012.12:75490564:CGC:C
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.02394/284 (ALFA)
-=0.00653/11 (Korea1K)
-=0.0096/114 (TOMMO)
-=0.01715/73 (GnomAD_exomes)
-=0.03986/46 (ExAC)
-=0.09021/1446 (GnomAD)
HGVS:: NC_000012.12:g.75490566_75490567del, NC_000012.11:g.75884346_75884347del

Select item 14914583276.

rs1491458327 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:75497896 (GRCh38)
12:75891677 (GRCh37)
Canonical SPDI:: NC_000012.12:75497896::T
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000052/3 (GnomAD)
HGVS:: NC_000012.12:g.75497896_75497897insT, NC_000012.11:g.75891676_75891677insT, NM_007043.7:c.*1912_*1913insA, NM_007043.6:c.*1912_*1913insA, XM_047428133.1:c.*1912_*1913insA

Select item 14914218797.

rs1491421879 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTA [Show Flanks]
Chromosome:: 12:75497904 (GRCh38)
12:75891685 (GRCh37)
Canonical SPDI:: NC_000012.12:75497904:TAACTA:TAACTAACTA
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAACTAACTA=0./0 (ALFA)
TAAC=0.000004/1 (TOPMED)
TAAC=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.75497907_75497910dup, NC_000012.11:g.75891687_75891690dup, NM_007043.7:c.*1901_*1904dup, NM_007043.6:c.*1901_*1904dup, XM_047428133.1:c.*1901_*1904dup

Select item 14913406478.

rs1491340647 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 12:75490584 (GRCh38)
12:75884365 (GRCh37)
Canonical SPDI:: NC_000012.12:75490584:A:ACA
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.75490585_75490586insCA, NC_000012.11:g.75884365_75884366insCA

Select item 14912940449.

rs1491294044 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:75496009 (GRCh38)
12:75889789 (GRCh37)
Canonical SPDI:: NC_000012.12:75496007:TGT:T
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000422/5 (ALFA)
-=0.000809/88 (GnomAD)
-=0.004283/70 (TOMMO)
-=0.011327/42 (TWINSUK)
-=0.022574/87 (ALSPAC)
HGVS:: NC_000012.12:g.75496009_75496010del, NC_000012.11:g.75889789_75889790del, NM_007043.7:c.*3800_*3801del, XM_047428133.1:c.*3800_*3801del

Select item 149118938610.

rs1491189386 has merged into rs10656645 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCC [Show Flanks]
Chromosome:: 12:75490562 (GRCh38)
12:75884342 (GRCh37)
Canonical SPDI:: NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000012.12:75490552:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000012.12:g.75490562_75490565del, NC_000012.12:g.75490563_75490565del, NC_000012.12:g.75490564_75490565del, NC_000012.12:g.75490565del, NC_000012.12:g.75490565dup, NC_000012.12:g.75490564_75490565dup, NC_000012.12:g.75490563_75490565dup, NC_000012.12:g.75490562_75490565dup, NC_000012.12:g.75490561_75490565dup, NC_000012.12:g.75490557_75490565dup, NC_000012.11:g.75884342_75884345del, NC_000012.11:g.75884343_75884345del, NC_000012.11:g.75884344_75884345del, NC_000012.11:g.75884345del, NC_000012.11:g.75884345dup, NC_000012.11:g.75884344_75884345dup, NC_000012.11:g.75884343_75884345dup, NC_000012.11:g.75884342_75884345dup, NC_000012.11:g.75884341_75884345dup, NC_000012.11:g.75884337_75884345dup

Select item 149117113911.

rs1491171139 has merged into rs55774067 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 12:75490591 (GRCh38)
12:75884371 (GRCh37)
Canonical SPDI:: NC_000012.12:75490583:AAAAAAAAA:AAAAAAA,NC_000012.12:75490583:AAAAAAAAA:AAAAAAAA,NC_000012.12:75490583:AAAAAAAAA:AAAAAAAAAA,NC_000012.12:75490583:AAAAAAAAA:AAAAAAAAAAA
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.75490591_75490592del, NC_000012.12:g.75490592del, NC_000012.12:g.75490592dup, NC_000012.12:g.75490591_75490592dup, NC_000012.11:g.75884371_75884372del, NC_000012.11:g.75884372del, NC_000012.11:g.75884372dup, NC_000012.11:g.75884371_75884372dup

Select item 149111868012.

rs1491118680 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:75499697 (GRCh38)
12:75893477 (GRCh37)
Canonical SPDI:: NC_000012.12:75499696:CC:
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.75499697_75499698del, NC_000012.11:g.75893477_75893478del, NM_007043.7:c.*111_*112del, NM_007043.6:c.*111_*112del, NM_006851.3:c.*719_*720del, NM_006851.2:c.*719_*720del, XM_047428133.1:c.*111_*112del

Select item 149108824613.

rs1491088246 has merged into rs71078739 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CCCCC,CCCCCCC [Show Flanks]
Chromosome:: 12:75490235 (GRCh38)
12:75884015 (GRCh37)
Canonical SPDI:: NC_000012.12:75490233:CCCC:C,NC_000012.12:75490233:CCCC:CC,NC_000012.12:75490233:CCCC:CCCCCC,NC_000012.12:75490233:CCCC:CCCCCCCC
Gene:: GLIPR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
CC=0.00055/1 (Korea1K)
CC=0.00117/20 (TOMMO)
HGVS:: NC_000012.12:g.75490235_75490237del, NC_000012.12:g.75490236_75490237del, NC_000012.12:g.75490236_75490237dup, NC_000012.12:g.75490234_75490237dup, NC_000012.11:g.75884015_75884017del, NC_000012.11:g.75884016_75884017del, NC_000012.11:g.75884016_75884017dup, NC_000012.11:g.75884014_75884017dup

Select item 149106183714.

rs1491061837 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 12:75480318 (GRCh38)
12:75874099 (GRCh37)
Canonical SPDI:: NC_000012.12:75480318::TT
Gene:: GLIPR1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: TT=0.000046/5 (GnomAD)
TT=0.002735/5 (Korea1K)
TT=0.00276/46 (TOMMO)
HGVS:: NC_000012.12:g.75480318_75480319insTT, NC_000012.11:g.75874098_75874099insTT

Select item 149104998315.

rs1491049983 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:75491176 (GRCh38)
12:75884956 (GRCh37)
Canonical SPDI:: NC_000012.12:75491174:AGA:A
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000057/7 (GnomAD)
-=0.000076/20 (TOPMED)
HGVS:: NC_000012.12:g.75491176_75491177del, NC_000012.11:g.75884956_75884957del, NM_007043.7:c.*8633_*8634del, XM_047428133.1:c.*8633_*8634del

Select item 149104492116.

rs1491044921 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:75498682 (GRCh38)
12:75892462 (GRCh37)
Canonical SPDI:: NC_000012.12:75498681:CT:
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.75498682_75498683del, NC_000012.11:g.75892462_75892463del, NM_007043.7:c.*1126_*1127del, NM_007043.6:c.*1126_*1127del, XM_047428133.1:c.*1126_*1127del

Select item 149103136317.

rs1491031363 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:75490593 (GRCh38)
12:75884373 (GRCh37)
Canonical SPDI:: NC_000012.12:75490591:ACA:A
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000061/8 (GnomAD)
HGVS:: NC_000012.12:g.75490593_75490594del, NC_000012.11:g.75884373_75884374del

Select item 149084666818.

rs1490846668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:75500570 (GRCh38)
12:75894350 (GRCh37)
Canonical SPDI:: NC_000012.12:75500569:T:G
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.75500570T>G, NC_000012.11:g.75894350T>G, NM_006851.3:c.*1592T>G, NM_006851.2:c.*1592T>G

Select item 149079532719.

rs1490795327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:75490947 (GRCh38)
12:75884727 (GRCh37)
Canonical SPDI:: NC_000012.12:75490946:C:T
Gene:: GLIPR1 (Varview), KRR1 (Varview), GLIPR1-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_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.75490947C>T, NC_000012.11:g.75884727C>T, NM_007043.7:c.*8862G>A, XM_047428133.1:c.*8862G>A

Select item 149061151620.

rs1490611516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:75499161 (GRCh38)
12:75892941 (GRCh37)
Canonical SPDI:: NC_000012.12:75499160:A:G,NC_000012.12:75499160:A:T
Gene:: GLIPR1 (Varview), KRR1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.75499161A>G, NC_000012.12:g.75499161A>T, NC_000012.11:g.75892941A>G, NC_000012.11:g.75892941A>T, NM_007043.7:c.*648T>C, NM_007043.7:c.*648T>A, NM_007043.6:c.*648T>C, NM_007043.6:c.*648T>A, NM_006851.3:c.*183A>G, NM_006851.3:c.*183A>T, NM_006851.2:c.*183A>G, NM_006851.2:c.*183A>T, XM_047428133.1:c.*648T>C, XM_047428133.1:c.*648T>A

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