SNP Links for Gene (Select 105373791) - SNP

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Select item 14915697501.

rs1491569750 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:188978756 (GRCh38)
2:189843482 (GRCh37)
Canonical SPDI:: NC_000002.12:188978755:CA:
Gene:: COL3A1 (Varview), MIR1245B (Varview), LOC105373791 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.0057/21 (TWINSUK)
-=0.0067/26 (ALSPAC)
HGVS:: NC_000002.12:g.188978756_188978757del, NC_000002.11:g.189843482_189843483del, NG_007404.1:g.9384_9385del, NW_025791764.1:g.83716_83717del

Select item 14914963102.

rs1491496310 [Homo sapiens]

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

Select item 14909838413.

rs1490983841 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:188986496 (GRCh38)
2:189851222 (GRCh37)
Canonical SPDI:: NC_000002.12:188986495:TTT:TT
Gene:: COL3A1 (Varview), LOC105373791 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.188986498del, NC_000002.11:g.189851224del, NG_007404.1:g.17126del, NW_025791764.1:g.91458del

Select item 14908657894.

rs1490865789 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:188967665 (GRCh38)
2:189832391 (GRCh37)
Canonical SPDI:: NC_000002.12:188967664:TT:T
Gene:: LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000002.12:g.188967666del, NC_000002.11:g.189832392del, NW_025791764.1:g.72626del

Select item 14905703435.

rs1490570343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188970296 (GRCh38)
2:189835022 (GRCh37)
Canonical SPDI:: NC_000002.12:188970295:G:A
Gene:: LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.188970296G>A, NC_000002.11:g.189835022G>A, NG_007404.1:g.924G>A, NW_025791764.1:g.75256G>A

Select item 14903681936.

rs1490368193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:188966213 (GRCh38)
2:189830939 (GRCh37)
Canonical SPDI:: NC_000002.12:188966212:A:C
Gene:: LOC105373791 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.188966213A>C, NC_000002.11:g.189830939A>C, NW_025791764.1:g.71173A>C

Select item 14903612837.

rs1490361283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188978038 (GRCh38)
2:189842764 (GRCh37)
Canonical SPDI:: NC_000002.12:188978037:A:G
Gene:: COL3A1 (Varview), MIR1245A (Varview), MIR1245B (Varview), LOC105373791 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000002.12:g.188978038A>G, NC_000002.11:g.189842764A>G, NG_007404.1:g.8666A>G, NW_025791764.1:g.82998A>G

Select item 14902602618.

rs1490260261 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:188968113 (GRCh38)
2:189832839 (GRCh37)
Canonical SPDI:: NC_000002.12:188968112:G:C,NC_000002.12:188968112:G:T
Gene:: LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.188968113G>C, NC_000002.12:g.188968113G>T, NC_000002.11:g.189832839G>C, NC_000002.11:g.189832839G>T, NW_025791764.1:g.73073G>C, NW_025791764.1:g.73073G>T

Select item 14902445919.

rs1490244591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188969207 (GRCh38)
2:189833933 (GRCh37)
Canonical SPDI:: NC_000002.12:188969206:G:A
Gene:: LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.188969207G>A, NC_000002.11:g.189833933G>A, NW_025791764.1:g.74167G>A

Select item 149003494610.

rs1490034946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:188977037 (GRCh38)
2:189841763 (GRCh37)
Canonical SPDI:: NC_000002.12:188977036:T:A,NC_000002.12:188977036:T:C
Gene:: COL3A1 (Varview), MIR1245A (Varview), LOC105373791 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.188977037T>A, NC_000002.12:g.188977037T>C, NC_000002.11:g.189841763T>A, NC_000002.11:g.189841763T>C, NG_007404.1:g.7665T>A, NG_007404.1:g.7665T>C, NW_025791764.1:g.81997T>A, NW_025791764.1:g.81997T>C

Select item 148997165111.

rs1489971651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:188978072 (GRCh38)
2:189842798 (GRCh37)
Canonical SPDI:: NC_000002.12:188978071:T:C
Gene:: COL3A1 (Varview), MIR1245A (Varview), MIR1245B (Varview), LOC105373791 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.188978072T>C, NC_000002.11:g.189842798T>C, NG_007404.1:g.8700T>C, NW_025791764.1:g.83032T>C

Select item 148987025012.

rs1489870250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188977551 (GRCh38)
2:189842277 (GRCh37)
Canonical SPDI:: NC_000002.12:188977550:A:G
Gene:: COL3A1 (Varview), MIR1245A (Varview), LOC105373791 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.188977551A>G, NC_000002.11:g.189842277A>G, NG_007404.1:g.8179A>G, NW_025791764.1:g.82511A>G

Select item 148983475213.

rs1489834752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:188985976 (GRCh38)
2:189850702 (GRCh37)
Canonical SPDI:: NC_000002.12:188985975:T:C
Gene:: COL3A1 (Varview), LOC105373791 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.188985976T>C, NC_000002.11:g.189850702T>C, NG_007404.1:g.16604T>C, NW_025791764.1:g.90936T>C

Select item 148950650014.

rs1489506500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188981455 (GRCh38)
2:189846181 (GRCh37)
Canonical SPDI:: NC_000002.12:188981454:G:A
Gene:: COL3A1 (Varview), LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.188981455G>A, NC_000002.11:g.189846181G>A, NG_007404.1:g.12083G>A, NW_025791764.1:g.86415G>A

Select item 148934786415.

rs1489347864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:188975557 (GRCh38)
2:189840283 (GRCh37)
Canonical SPDI:: NC_000002.12:188975556:T:C,NC_000002.12:188975556:T:G
Gene:: COL3A1 (Varview), LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.188975557T>C, NC_000002.12:g.188975557T>G, NC_000002.11:g.189840283T>C, NC_000002.11:g.189840283T>G, NG_007404.1:g.6185T>C, NG_007404.1:g.6185T>G, NW_025791764.1:g.80517T>C, NW_025791764.1:g.80517T>G

Select item 148925269916.

rs1489252699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:188979581 (GRCh38)
2:189844307 (GRCh37)
Canonical SPDI:: NC_000002.12:188979580:C:T
Gene:: COL3A1 (Varview), MIR1245B (Varview), LOC105373791 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.188979581C>T, NC_000002.11:g.189844307C>T, NG_007404.1:g.10209C>T, NW_025791764.1:g.84541C>T

Select item 148912516317.

rs1489125163 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:188983785 (GRCh38)
2:189848512 (GRCh37)
Canonical SPDI:: NC_000002.12:188983785:TT:TTT
Gene:: COL3A1 (Varview), LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.188983787dup, NC_000002.11:g.189848513dup, NG_007404.1:g.14415dup, NW_025791764.1:g.88747dup

Select item 148900480618.

rs1489004806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:188980176 (GRCh38)
2:189844902 (GRCh37)
Canonical SPDI:: NC_000002.12:188980175:G:A
Gene:: COL3A1 (Varview), LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.188980176G>A, NC_000002.11:g.189844902G>A, NG_007404.1:g.10804G>A, NW_025791764.1:g.85136G>A

Select item 148879314819.

rs1488793148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:188984406 (GRCh38)
2:189849132 (GRCh37)
Canonical SPDI:: NC_000002.12:188984405:A:G
Gene:: COL3A1 (Varview), LOC105373791 (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_000002.12:g.188984406A>G, NC_000002.11:g.189849132A>G, NG_007404.1:g.15034A>G, NW_025791764.1:g.89366A>G

Select item 148857562620.

rs1488575626 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:188982670 (GRCh38)
2:189847396 (GRCh37)
Canonical SPDI:: NC_000002.12:188982669:T:A
Gene:: COL3A1 (Varview), LOC105373791 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.188982670T>A, NC_000002.11:g.189847396T>A, NG_007404.1:g.13298T>A, NW_025791764.1:g.87630T>A

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