SNP Links for Gene (Select 1047) - SNP

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Select item 14915115741.

rs1491511574 has merged into rs1553944628 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: 4:140396891 (GRCh38)
4:141318045 (GRCh37)
Canonical SPDI:: NC_000004.12:140396889:TGT:T,NC_000004.12:140396889:TGT:TGTGT,NC_000004.12:140396889:TGT:TGTGTGT
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.140396891_140396892del, NC_000004.12:g.140396891_140396892dup, NC_000004.12:g.140396891GT[3], NC_000004.11:g.141318045_141318046del, NC_000004.11:g.141318045_141318046dup, NC_000004.11:g.141318045GT[3]

Select item 14914710552.

rs1491471055 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 4:140396908 (GRCh38)
4:141318063 (GRCh37)
Canonical SPDI:: NC_000004.12:140396908:A:ACA
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000004.12:g.140396909_140396910insCA, NC_000004.11:g.141318063_141318064insCA

Select item 14914099543.

rs1491409954 has merged into rs397878452 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 4:140420559 (GRCh38)
4:141341713 (GRCh37)
Canonical SPDI:: NC_000004.12:140420554:AAAAAAAAAAA:AAAA,NC_000004.12:140420554:AAAAAAAAAAA:AAAAAAAAA,NC_000004.12:140420554:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:140420554:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:140420554:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:140420554:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.140420559_140420565del, NC_000004.12:g.140420564_140420565del, NC_000004.12:g.140420565del, NC_000004.12:g.140420565dup, NC_000004.12:g.140420564_140420565dup, NC_000004.12:g.140420563_140420565dup, NC_000004.11:g.141341713_141341719del, NC_000004.11:g.141341718_141341719del, NC_000004.11:g.141341719del, NC_000004.11:g.141341719dup, NC_000004.11:g.141341718_141341719dup, NC_000004.11:g.141341717_141341719dup

Select item 14913968404.

rs1491396840 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:140396927 (GRCh38)
4:141318082 (GRCh37)
Canonical SPDI:: NC_000004.12:140396927:T:TGT
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.140396928_140396929insGT, NC_000004.11:g.141318082_141318083insGT

Select item 14913117415.

rs1491311741 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:140420554 (GRCh38)
4:141341708 (GRCh37)
Canonical SPDI:: NC_000004.12:140420553:TA:
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140420554_140420555del, NC_000004.11:g.141341708_141341709del

Select item 14912979876.

rs1491297987 has merged into rs1168394243 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT [Show Flanks]
Chromosome:: 4:140396907 (GRCh38)
4:141318061 (GRCh37)
Canonical SPDI:: NC_000004.12:140396905:TGT:T,NC_000004.12:140396905:TGT:TGTGT,NC_000004.12:140396905:TGT:TGTGTGT
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TG=0.01168/20 (Korea1K)
HGVS:: NC_000004.12:g.140396907_140396908del, NC_000004.12:g.140396907_140396908dup, NC_000004.12:g.140396907GT[3], NC_000004.11:g.141318061_141318062del, NC_000004.11:g.141318061_141318062dup, NC_000004.11:g.141318061GT[3]

Select item 14912775997.

rs1491277599 has merged into rs10640037 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATA>-,TATATA,TATATATA,TATATATATATA,TATATATATATACACATATATATATATGTATATATATATATATATA,TATATATATATACACATATATGTATATATATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATGTATATATATATATATATA,TATATATATATATGTATATATATATATATGTATATATATATATATATA,TATATATATATGTATATATATATATATGTATATATATATATATATA [Show Flanks]
Chromosome:: 4:140396914 (GRCh38)
4:141318068 (GRCh37)
Canonical SPDI:: NC_000004.12:140396907:TATATATATATATATA:TATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATACACATATATATATATGTATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATACACATATATGTATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATATGTATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATATGTATATATATATATATGTATATATATATATATATA,NC_000004.12:140396907:TATATATATATATATA:TATATATATATATATATGTATATATATATATATGTATATATATATATATATA
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000004.12:g.140396908TA[3], NC_000004.12:g.140396908TA[6], NC_000004.12:g.140396908TA[7], NC_000004.12:g.140396908TA[9], NC_000004.12:g.140396908_140396923TA[9]CA[2]TA[5]TGTATATATATATATATATA[1], NC_000004.12:g.140396908_140396923TA[9]CA[2]TA[2]TGTATATATATATATATATA[1], NC_000004.12:g.140396908TA[10], NC_000004.12:g.140396908TA[11], NC_000004.12:g.140396908TA[12], NC_000004.12:g.140396908_140396923TA[9]TGTATATATATATATATATA[1], NC_000004.12:g.140396908_140396923TA[9]TGTATATATATATATA[2]TA[2], NC_000004.12:g.140396908_140396923TA[8]TGTATATATATATATA[2]TA[2], NC_000004.11:g.141318062TA[3], NC_000004.11:g.141318062TA[6], NC_000004.11:g.141318062TA[7], NC_000004.11:g.141318062TA[9], NC_000004.11:g.141318062_141318077TA[9]CA[2]TA[5]TGTATATATATATATATATA[1], NC_000004.11:g.141318062_141318077TA[9]CA[2]TA[2]TGTATATATATATATATATA[1], NC_000004.11:g.141318062TA[10], NC_000004.11:g.141318062TA[11], NC_000004.11:g.141318062TA[12], NC_000004.11:g.141318062_141318077TA[9]TGTATATATATATATATATA[1], NC_000004.11:g.141318062_141318077TA[9]TGTATATATATATATA[2]TA[2], NC_000004.11:g.141318062_141318077TA[8]TGTATATATATATATA[2]TA[2]

Select item 14912066638.

rs1491206663 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G,TA [Show Flanks]
Chromosome:: 4:140405190 (GRCh38)
4:141326345 (GRCh37)
Canonical SPDI:: NC_000004.12:140405190::C,NC_000004.12:140405190::G,NC_000004.12:140405190::TA
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.140405190_140405191insC, NC_000004.12:g.140405190_140405191insG, NC_000004.12:g.140405190_140405191insTA, NC_000004.11:g.141326344_141326345insC, NC_000004.11:g.141326344_141326345insG, NC_000004.11:g.141326344_141326345insTA

Select item 14911615749.

rs1491161574 has merged into rs1274989691 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATA>-,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA [Show Flanks]
Chromosome:: 4:140396928 (GRCh38)
4:141318082 (GRCh37)
Canonical SPDI:: NC_000004.12:140396926:ATATATATATATA:A,NC_000004.12:140396926:ATATATATATATA:ATATATATATA,NC_000004.12:140396926:ATATATATATATA:ATATATATATATATA,NC_000004.12:140396926:ATATATATATATA:ATATATATATATATATA,NC_000004.12:140396926:ATATATATATATA:ATATATATATATATATATA
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
HGVS:: NC_000004.12:g.140396928_140396939del, NC_000004.12:g.140396928TA[5], NC_000004.12:g.140396928TA[7], NC_000004.12:g.140396928TA[8], NC_000004.12:g.140396928TA[9], NC_000004.11:g.141318082_141318093del, NC_000004.11:g.141318082TA[5], NC_000004.11:g.141318082TA[7], NC_000004.11:g.141318082TA[8], NC_000004.11:g.141318082TA[9]

Select item 149113632910.

rs1491136329 has merged into rs33994946 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:140407597 (GRCh38)
4:141328751 (GRCh37)
Canonical SPDI:: NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:140407586:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.172807/666 (ALSPAC)
-=0.40635/2035 (1000Genomes)
HGVS:: NC_000004.12:g.140407597_140407603del, NC_000004.12:g.140407600_140407603del, NC_000004.12:g.140407601_140407603del, NC_000004.12:g.140407602_140407603del, NC_000004.12:g.140407603del, NC_000004.12:g.140407603dup, NC_000004.12:g.140407602_140407603dup, NC_000004.12:g.140407601_140407603dup, NC_000004.12:g.140407600_140407603dup, NC_000004.12:g.140407599_140407603dup, NC_000004.11:g.141328751_141328757del, NC_000004.11:g.141328754_141328757del, NC_000004.11:g.141328755_141328757del, NC_000004.11:g.141328756_141328757del, NC_000004.11:g.141328757del, NC_000004.11:g.141328757dup, NC_000004.11:g.141328756_141328757dup, NC_000004.11:g.141328755_141328757dup, NC_000004.11:g.141328754_141328757dup, NC_000004.11:g.141328753_141328757dup

Select item 149110673611.

rs1491106736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:140405191 (GRCh38)
4:141326345 (GRCh37)
Canonical SPDI:: NC_000004.12:140405189:TAT:T
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00004/4 (GnomAD)
HGVS:: NC_000004.12:g.140405191_140405192del, NC_000004.11:g.141326345_141326346del

Select item 149107637912.

rs1491076379 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:140405176 (GRCh38)
4:141326330 (GRCh37)
Canonical SPDI:: NC_000004.12:140405173:TTTTT:TT,NC_000004.12:140405173:TTTTT:TTTT,NC_000004.12:140405173:TTTTT:TTTTTT,NC_000004.12:140405173:TTTTT:TTTTTTTTTTT,NC_000004.12:140405173:TTTTT:TTTTTTTTTTTT,NC_000004.12:140405173:TTTTT:TTTTTTTTTTTTTTT,NC_000004.12:140405173:TTTTT:TTTTTTTTTTTTTTTT
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
TTTTTT=0.00007/1 (TOMMO)
HGVS:: NC_000004.12:g.140405176_140405178del, NC_000004.12:g.140405178del, NC_000004.12:g.140405178dup, NC_000004.12:g.140405178_140405179insTTTTTT, NC_000004.12:g.140405178_140405179insTTTTTTT, NC_000004.12:g.140405178_140405179insTTTTTTTTTT, NC_000004.12:g.140405178_140405179insTTTTTTTTTTT, NC_000004.11:g.141326330_141326332del, NC_000004.11:g.141326332del, NC_000004.11:g.141326332dup, NC_000004.11:g.141326332_141326333insTTTTTT, NC_000004.11:g.141326332_141326333insTTTTTTT, NC_000004.11:g.141326332_141326333insTTTTTTTTTT, NC_000004.11:g.141326332_141326333insTTTTTTTTTTT

Select item 149103508913.

rs1491035089 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 4:140425621 (GRCh38)
4:141346775 (GRCh37)
Canonical SPDI:: NC_000004.12:140425620:CC:
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140425621_140425622del, NC_000004.11:g.141346775_141346776del

Select item 149082655014.

rs1490826550 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:140413881 (GRCh38)
4:141335035 (GRCh37)
Canonical SPDI:: NC_000004.12:140413880:T:G
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.140413881T>G, NC_000004.11:g.141335035T>G

Select item 149070849815.

rs1490708498 [Homo sapiens]

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

Select item 149066315316.

rs1490663153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140415075 (GRCh38)
4:141336229 (GRCh37)
Canonical SPDI:: NC_000004.12:140415074:C:T
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.140415075C>T, NC_000004.11:g.141336229C>T

Select item 149063583617.

rs1490635836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:140401111 (GRCh38)
4:141322265 (GRCh37)
Canonical SPDI:: NC_000004.12:140401110:C:G,NC_000004.12:140401110:C:T
Gene:: CLGN (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_000004.12:g.140401111C>G, NC_000004.12:g.140401111C>T, NC_000004.11:g.141322265C>G, NC_000004.11:g.141322265C>T

Select item 149060994718.

rs1490609947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:140399904 (GRCh38)
4:141321058 (GRCh37)
Canonical SPDI:: NC_000004.12:140399903:G:C
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.140399904G>C, NC_000004.11:g.141321058G>C

Select item 149056502619.

rs1490565026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140396744 (GRCh38)
4:141317898 (GRCh37)
Canonical SPDI:: NC_000004.12:140396743:G:A
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140396744G>A, NC_000004.11:g.141317898G>A

Select item 149055185520.

rs1490551855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:140415986 (GRCh38)
4:141337140 (GRCh37)
Canonical SPDI:: NC_000004.12:140415985:A:T
Gene:: CLGN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.140415986A>T, NC_000004.11:g.141337140A>T

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