SNP Links for Gene (Select 6678) - SNP

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Select item 14915002251.

rs1491500225 has merged into rs576997243 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:151660617 (GRCh38)
5:151040178 (GRCh37)
Canonical SPDI:: NC_000005.10:151660605:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:151660605:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:151660605:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151660605:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151660605:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151660605:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SPARC (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.00102/17 (TOMMO)
-=0.00171/1 (NorthernSweden)
T=0.01825/33 (Korea1K)
HGVS:: NC_000005.10:g.151660617_151660618del, NC_000005.10:g.151660618del, NC_000005.10:g.151660618dup, NC_000005.10:g.151660617_151660618dup, NC_000005.10:g.151660616_151660618dup, NC_000005.10:g.151660614_151660618dup, NC_000005.9:g.151040178_151040179del, NC_000005.9:g.151040179del, NC_000005.9:g.151040179dup, NC_000005.9:g.151040178_151040179dup, NC_000005.9:g.151040177_151040179dup, NC_000005.9:g.151040175_151040179dup, NG_042174.1:g.31448_31449del, NG_042174.1:g.31449del, NG_042174.1:g.31449dup, NG_042174.1:g.31448_31449dup, NG_042174.1:g.31447_31449dup, NG_042174.1:g.31445_31449dup

Select item 14914479102.

rs1491447910 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:151660606 (GRCh38)
5:151040168 (GRCh37)
Canonical SPDI:: NC_000005.10:151660606:T:TGT
Gene:: SPARC (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: TG=0.000092/10 (GnomAD)
HGVS:: NC_000005.10:g.151660607_151660608insGT, NC_000005.9:g.151040168_151040169insGT, NG_042174.1:g.31448_31449insCA

Select item 14914038153.

rs1491403815 has merged into rs1283784369 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 5:151673966 (GRCh38)
5:151053527 (GRCh37)
Canonical SPDI:: NC_000005.10:151673963:CTCT:CT,NC_000005.10:151673963:CTCT:CTCTCT
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000245/4 (ALFA)
-=0.000017/2 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.151673964CT[1], NC_000005.10:g.151673964CT[3], NC_000005.9:g.151053525CT[1], NC_000005.9:g.151053525CT[3], NG_042174.1:g.18088AG[1], NG_042174.1:g.18088AG[3]

Select item 14913845954.

rs1491384595 has merged into rs145047311 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTGTTT>-,GTTT,GTTTGTTTGTTT [Show Flanks]
Chromosome:: 5:151674020 (GRCh38)
5:151053581 (GRCh37)
Canonical SPDI:: NC_000005.10:151674009:TTGTTTGTTTGTTTGTTT:TTGTTTGTTT,NC_000005.10:151674009:TTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTT,NC_000005.10:151674009:TTGTTTGTTTGTTTGTTT:TTGTTTGTTTGTTTGTTTGTTT
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTTTGTTTGTTTGTTTGTTT=0./0 (ALFA)
-=0.085/51 (NorthernSweden)
-=0.08512/381 (Estonian)
-=0.17535/175 (GoNL)
-=0.31441/576 (Korea1K)
-=0.42404/7094 (TOMMO)
HGVS:: NC_000005.10:g.151674012GTTT[2], NC_000005.10:g.151674012GTTT[3], NC_000005.10:g.151674012GTTT[5], NC_000005.9:g.151053573GTTT[2], NC_000005.9:g.151053573GTTT[3], NC_000005.9:g.151053573GTTT[5], NG_042174.1:g.18030ACAA[2], NG_042174.1:g.18030ACAA[3], NG_042174.1:g.18030ACAA[5]

Select item 14913564845.

rs1491356484 has merged into rs1215347332 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 5:151668170 (GRCh38)
5:151047731 (GRCh37)
Canonical SPDI:: NC_000005.10:151668157:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:151668157:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:151668157:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151668157:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151668157:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.151668170_151668171del, NC_000005.10:g.151668171del, NC_000005.10:g.151668171dup, NC_000005.10:g.151668170_151668171dup, NC_000005.10:g.151668168_151668171dup, NC_000005.9:g.151047731_151047732del, NC_000005.9:g.151047732del, NC_000005.9:g.151047732dup, NC_000005.9:g.151047731_151047732dup, NC_000005.9:g.151047729_151047732dup, NG_042174.1:g.23896_23897del, NG_042174.1:g.23897del, NG_042174.1:g.23897dup, NG_042174.1:g.23896_23897dup, NG_042174.1:g.23894_23897dup

Select item 14911731056.

rs1491173105 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:151673964 (GRCh38)
5:151053526 (GRCh37)
Canonical SPDI:: NC_000005.10:151673964:T:TGT
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000009/1 (GnomAD)
TG=0.000177/3 (TOMMO)
TG=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.151673965_151673966insGT, NC_000005.9:g.151053526_151053527insGT, NG_042174.1:g.18090_18091insCA

Select item 14910451117.

rs1491045111 has merged into rs574308074 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 5:151688708 (GRCh38)
5:151068269 (GRCh37)
Canonical SPDI:: NC_000005.10:151688693:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151688693:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151688693:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:151688693:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:151688693:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SPARC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.02/12 (NorthernSweden)
HGVS:: NC_000005.10:g.151688708_151688709del, NC_000005.10:g.151688709del, NC_000005.10:g.151688709dup, NC_000005.10:g.151688708_151688709dup, NC_000005.10:g.151688707_151688709dup, NC_000005.9:g.151068269_151068270del, NC_000005.9:g.151068270del, NC_000005.9:g.151068270dup, NC_000005.9:g.151068269_151068270dup, NC_000005.9:g.151068268_151068270dup, NG_042174.1:g.3360_3361del, NG_042174.1:g.3361del, NG_042174.1:g.3361dup, NG_042174.1:g.3360_3361dup, NG_042174.1:g.3359_3361dup

Select item 14909892358.

rs1490989235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:151687474 (GRCh38)
5:151067035 (GRCh37)
Canonical SPDI:: NC_000005.10:151687473:T:G
Gene:: SPARC (Varview), CLMAT3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.151687474T>G, NC_000005.9:g.151067035T>G, NG_042174.1:g.4581A>C, NR_109873.1:n.1537T>G

Select item 14909281959.

rs1490928195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151663009 (GRCh38)
5:151042570 (GRCh37)
Canonical SPDI:: NC_000005.10:151663008:C:T
Gene:: SPARC (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.151663009C>T, NC_000005.9:g.151042570C>T, NG_042174.1:g.29046G>A, NM_003118.4:c.*562G>A, NM_003118.3:c.*562G>A, NM_001309444.2:c.*446G>A, NM_001309444.1:c.*446G>A, NM_001309443.2:c.*562G>A, NM_001309443.1:c.*562G>A

Select item 149070776710.

rs1490707767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:151670124 (GRCh38)
5:151049685 (GRCh37)
Canonical SPDI:: NC_000005.10:151670123:T:C,NC_000005.10:151670123:T:G
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.151670124T>C, NC_000005.10:g.151670124T>G, NC_000005.9:g.151049685T>C, NC_000005.9:g.151049685T>G, NG_042174.1:g.21931A>G, NG_042174.1:g.21931A>C

Select item 149069286011.

rs1490692860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:151671227 (GRCh38)
5:151050788 (GRCh37)
Canonical SPDI:: NC_000005.10:151671226:T:C,NC_000005.10:151671226:T:G
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.151671227T>C, NC_000005.10:g.151671227T>G, NC_000005.9:g.151050788T>C, NC_000005.9:g.151050788T>G, NG_042174.1:g.20828A>G, NG_042174.1:g.20828A>C

Select item 149062508912.

rs1490625089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151672673 (GRCh38)
5:151052234 (GRCh37)
Canonical SPDI:: NC_000005.10:151672672:A:G
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151672673A>G, NC_000005.9:g.151052234A>G, NG_042174.1:g.19382T>C

Select item 149059882013.

rs1490598820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:151686955 (GRCh38)
5:151066516 (GRCh37)
Canonical SPDI:: NC_000005.10:151686954:A:T
Gene:: SPARC (Varview), CLMAT3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151686955A>T, NC_000005.9:g.151066516A>T, NG_042174.1:g.5100T>A, NM_003118.3:c.-104T>A, NM_001309444.1:c.-104T>A, NM_001309443.1:c.-104T>A, NR_109873.1:n.1018A>T

Select item 149059348714.

rs1490593487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151671005 (GRCh38)
5:151050566 (GRCh37)
Canonical SPDI:: NC_000005.10:151671004:A:G
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.151671005A>G, NC_000005.9:g.151050566A>G, NG_042174.1:g.21050T>C

Select item 149053268515.

rs1490532685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:151671811 (GRCh38)
5:151051372 (GRCh37)
Canonical SPDI:: NC_000005.10:151671810:T:C
Gene:: SPARC (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_000005.10:g.151671811T>C, NC_000005.9:g.151051372T>C, NG_042174.1:g.20244A>G

Select item 149048726616.

rs1490487266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:151688811 (GRCh38)
5:151068372 (GRCh37)
Canonical SPDI:: NC_000005.10:151688810:C:T
Gene:: SPARC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.151688811C>T, NC_000005.9:g.151068372C>T, NG_042174.1:g.3244G>A

Select item 149040352117.

rs1490403521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:151679473 (GRCh38)
5:151059034 (GRCh37)
Canonical SPDI:: NC_000005.10:151679472:T:C,NC_000005.10:151679472:T:G
Gene:: SPARC (Varview), CLMAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
C=0.000106/2 (TOMMO)
HGVS:: NC_000005.10:g.151679473T>C, NC_000005.10:g.151679473T>G, NC_000005.9:g.151059034T>C, NC_000005.9:g.151059034T>G, NG_042174.1:g.12582A>G, NG_042174.1:g.12582A>C

Select item 149021971318.

rs1490219713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151680883 (GRCh38)
5:151060444 (GRCh37)
Canonical SPDI:: NC_000005.10:151680882:A:G
Gene:: SPARC (Varview), CLMAT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151680883A>G, NC_000005.9:g.151060444A>G, NG_042174.1:g.11172T>C

Select item 149010959119.

rs1490109591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:151663482 (GRCh38)
5:151043043 (GRCh37)
Canonical SPDI:: NC_000005.10:151663481:A:G
Gene:: SPARC (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.151663482A>G, NC_000005.9:g.151043043A>G, NG_042174.1:g.28573T>C, NM_003118.4:c.*89T>C, NM_003118.3:c.*89T>C, NM_001309444.2:c.999T>C, NM_001309444.1:c.999T>C, NM_001309443.2:c.*89T>C, NM_001309443.1:c.*89T>C, NG_083870.1:g.346A>G

Select item 148994488220.

rs1489944882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:151663949 (GRCh38)
5:151043510 (GRCh37)
Canonical SPDI:: NC_000005.10:151663948:T:G
Gene:: SPARC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.151663949T>G, NC_000005.9:g.151043510T>G, NG_042174.1:g.28106A>C, NG_083870.1:g.813T>G

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