SNP Links for Gene (Select 101928532) - SNP

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Select item 14913765271.

rs1491376527 has merged into rs1390383749 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 4:8746850 (GRCh38)
4:8748576 (GRCh37)
Canonical SPDI:: NC_000004.12:8746843:CACACACA:CACACA,NC_000004.12:8746843:CACACACA:CACACACACA
Gene:: LOC101928532 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
-=0.00046/8 (TOMMO)
HGVS:: NC_000004.12:g.8746844CA[3], NC_000004.12:g.8746844CA[5], NC_000004.11:g.8748570CA[3], NC_000004.11:g.8748570CA[5], NW_021159993.1:g.17897CA[3], NW_021159993.1:g.17897CA[5]

Select item 14912965572.

rs1491296557 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 4:8746844 (GRCh38)
4:8748571 (GRCh37)
Canonical SPDI:: NC_000004.12:8746844:A:ATA
Gene:: LOC101928532 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000004.12:g.8746845_8746846insTA, NC_000004.11:g.8748571_8748572insTA, NW_021159993.1:g.17898_17899insTA

Select item 14909656643.

rs1490965664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8747070 (GRCh38)
4:8748796 (GRCh37)
Canonical SPDI:: NC_000004.12:8747069:C:T
Gene:: LOC101928532 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.8747070C>T, NC_000004.11:g.8748796C>T, NW_021159993.1:g.18123C>T

Select item 14909589424.

rs1490958942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8748759 (GRCh38)
4:8750485 (GRCh37)
Canonical SPDI:: NC_000004.12:8748758:C:T
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.8748759C>T, NC_000004.11:g.8750485C>T, NW_021159993.1:g.19812C>T

Select item 14908736815.

rs1490873681 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14901157026.

rs1490115702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8746498 (GRCh38)
4:8748224 (GRCh37)
Canonical SPDI:: NC_000004.12:8746497:C:T
Gene:: LOC101928532 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.8746498C>T, NC_000004.11:g.8748224C>T, NW_021159993.1:g.17551C>T

Select item 14898164807.

rs1489816480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8749622 (GRCh38)
4:8751348 (GRCh37)
Canonical SPDI:: NC_000004.12:8749621:C:T
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.8749622C>T, NC_000004.11:g.8751348C>T, NW_021159993.1:g.20675C>T

Select item 14897137488.

rs1489713748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:8745277 (GRCh38)
4:8747003 (GRCh37)
Canonical SPDI:: NC_000004.12:8745276:A:C
Gene:: LOC101928532 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.8745277A>C, NC_000004.11:g.8747003A>C, NW_021159993.1:g.16330A>C

Select item 14897025419.

rs1489702541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8746036 (GRCh38)
4:8747762 (GRCh37)
Canonical SPDI:: NC_000004.12:8746035:G:A
Gene:: LOC101928532 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.8746036G>A, NC_000004.11:g.8747762G>A, NW_021159993.1:g.17089G>A, XR_241665.6:n.479C>T, XR_241665.5:n.485C>T, XR_241665.4:n.468C>T, XR_241665.3:n.460C>T, XR_241665.2:n.464C>T, XR_241665.1:n.264C>T, XR_925115.4:n.479C>T, XR_925115.3:n.487C>T, XR_925115.2:n.468C>T, XR_925115.1:n.460C>T, XR_007069124.1:n.589C>T, XR_007069125.1:n.589C>T

Select item 148791909810.

rs1487919098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8746551 (GRCh38)
4:8748277 (GRCh37)
Canonical SPDI:: NC_000004.12:8746550:C:T
Gene:: LOC101928532 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/1 (GnomAD)
HGVS:: NC_000004.12:g.8746551C>T, NC_000004.11:g.8748277C>T, NW_021159993.1:g.17604C>T

Select item 148783555911.

rs1487835559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8749586 (GRCh38)
4:8751312 (GRCh37)
Canonical SPDI:: NC_000004.12:8749585:G:A
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.8749586G>A, NC_000004.11:g.8751312G>A, NW_021159993.1:g.20639G>A

Select item 148770009912.

rs1487700099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8744972 (GRCh38)
4:8746698 (GRCh37)
Canonical SPDI:: NC_000004.12:8744971:T:C
Gene:: LOC101928532 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000004.12:g.8744972T>C, NC_000004.11:g.8746698T>C, NW_021159993.1:g.16025T>C

Select item 148759059713.

rs1487590597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:8745695 (GRCh38)
4:8747421 (GRCh37)
Canonical SPDI:: NC_000004.12:8745694:G:A,NC_000004.12:8745694:G:T
Gene:: LOC101928532 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.8745695G>A, NC_000004.12:g.8745695G>T, NC_000004.11:g.8747421G>A, NC_000004.11:g.8747421G>T, NW_021159993.1:g.16748G>A, NW_021159993.1:g.16748G>T, XR_241665.6:n.647C>T, XR_241665.6:n.647C>A, XR_241665.5:n.653C>T, XR_241665.5:n.653C>A, XR_241665.4:n.636C>T, XR_241665.4:n.636C>A, XR_241665.3:n.628C>T, XR_241665.3:n.628C>A, XR_241665.2:n.632C>T, XR_241665.2:n.632C>A, XR_241665.1:n.432C>T, XR_241665.1:n.432C>A, XR_925115.4:n.614C>T, XR_925115.4:n.614C>A, XR_925115.3:n.622C>T, XR_925115.3:n.622C>A, XR_925115.2:n.603C>T, XR_925115.2:n.603C>A, XR_925115.1:n.595C>T, XR_925115.1:n.595C>A, XR_007069124.1:n.757C>T, XR_007069124.1:n.757C>A, XR_007069125.1:n.724C>T, XR_007069125.1:n.724C>A

Select item 148736976314.

rs1487369763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8747825 (GRCh38)
4:8749551 (GRCh37)
Canonical SPDI:: NC_000004.12:8747824:T:C
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.8747825T>C, NC_000004.11:g.8749551T>C, NW_021159993.1:g.18878T>C, XR_007069124.1:n.8A>G, XR_007069125.1:n.8A>G

Select item 148605357115.

rs1486053571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8749370 (GRCh38)
4:8751096 (GRCh37)
Canonical SPDI:: NC_000004.12:8749369:G:A
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.8749370G>A, NC_000004.11:g.8751096G>A, NW_021159993.1:g.20423G>A

Select item 148512761616.

rs1485127616 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:8747169 (GRCh38)
4:8748895 (GRCh37)
Canonical SPDI:: NC_000004.12:8747168:AT:
Gene:: LOC101928532 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000121/17 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.8747169_8747170del, NC_000004.11:g.8748895_8748896del, NW_021159993.1:g.18222_18223del

Select item 148470961717.

rs1484709617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8748988 (GRCh38)
4:8750714 (GRCh37)
Canonical SPDI:: NC_000004.12:8748987:G:A
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8748988G>A, NC_000004.11:g.8750714G>A, NW_021159993.1:g.20041G>A

Select item 148400896818.

rs1484008968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:8745841 (GRCh38)
4:8747567 (GRCh37)
Canonical SPDI:: NC_000004.12:8745840:C:G
Gene:: LOC101928532 (Varview)
Functional Consequence:: intron_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_000004.12:g.8745841C>G, NC_000004.11:g.8747567C>G, NW_021159993.1:g.16894C>G

Select item 148396045119.

rs1483960451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8749438 (GRCh38)
4:8751164 (GRCh37)
Canonical SPDI:: NC_000004.12:8749437:C:T
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8749438C>T, NC_000004.11:g.8751164C>T, NW_021159993.1:g.20491C>T

Select item 148378586720.

rs1483785867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8747737 (GRCh38)
4:8749463 (GRCh37)
Canonical SPDI:: NC_000004.12:8747736:T:C
Gene:: LOC101928532 (Varview)
Functional Consequence:: upstream_transcript_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_000004.12:g.8747737T>C, NC_000004.11:g.8749463T>C, NW_021159993.1:g.18790T>C, XR_007069124.1:n.96A>G, XR_007069125.1:n.96A>G

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