SNP Links for Gene (Select 101928796) - SNP

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Select item 14915174741.

rs1491517474 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 21:45972928 (GRCh38)
21:47392842 (GRCh37)
Canonical SPDI:: NC_000021.9:45972927:AT:
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.002237/10 (ALFA)
-=0.000559/78 (GnomAD)
-=0.002232/10 (Estonian)
-=0.002803/5 (Korea1K)
-=0.003539/59 (TOMMO)
HGVS:: NC_000021.9:g.45972928_45972929del, NC_000021.8:g.47392842_47392843del

Select item 14913160602.

rs1491316060 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACAGG,ACAGGG [Show Flanks]
Chromosome:: 21:45972928 (GRCh38)
21:47392843 (GRCh37)
Canonical SPDI:: NC_000021.9:45972928::ACAGG,NC_000021.9:45972928::ACAGGG
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: ACAGG=0.00022/1 (Estonian)
ACAGG=0.00179/30 (TOMMO)
HGVS:: NC_000021.9:g.45972928_45972929insACAGG, NC_000021.9:g.45972928_45972929insACAGGG, NC_000021.8:g.47392842_47392843insACAGG, NC_000021.8:g.47392842_47392843insACAGGG

Select item 14911857203.

rs1491185720 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 21:45973660 (GRCh38)
21:47393574 (GRCh37)
Canonical SPDI:: NC_000021.9:45973659:TG:
Gene:: LOC101928796 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.002276/27 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000021.9:g.45973660_45973661del, NC_000021.8:g.47393574_47393575del

Select item 14907826054.

rs1490782605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45972345 (GRCh38)
21:47392259 (GRCh37)
Canonical SPDI:: NC_000021.9:45972344:C:T
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.45972345C>T, NC_000021.8:g.47392259C>T

Select item 14906232835.

rs1490623283 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45971894 (GRCh38)
21:47391808 (GRCh37)
Canonical SPDI:: NC_000021.9:45971893:C:T
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.45971894C>T, NC_000021.8:g.47391808C>T

Select item 14898054416.

rs1489805441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:45971496 (GRCh38)
21:47391410 (GRCh37)
Canonical SPDI:: NC_000021.9:45971495:G:A
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000021.9:g.45971496G>A, NC_000021.8:g.47391410G>A

Select item 14896697807.

rs1489669780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:45971300 (GRCh38)
21:47391214 (GRCh37)
Canonical SPDI:: NC_000021.9:45971299:G:A
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000021.9:g.45971300G>A, NC_000021.8:g.47391214G>A

Select item 14871178328.

rs1487117832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45975166 (GRCh38)
21:47395080 (GRCh37)
Canonical SPDI:: NC_000021.9:45975165:C:T
Gene:: LOC101928796 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000053/14 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000021.9:g.45975166C>T, NC_000021.8:g.47395080C>T

Select item 14852295809.

rs1485229580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:45973644 (GRCh38)
21:47393558 (GRCh37)
Canonical SPDI:: NC_000021.9:45973643:T:G
Gene:: LOC101928796 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.45973644T>G, NC_000021.8:g.47393558T>G

Select item 148511949310.

rs1485119493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:45971096 (GRCh38)
21:47391010 (GRCh37)
Canonical SPDI:: NC_000021.9:45971095:T:C
Gene:: LOC101928796 (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_000021.9:g.45971096T>C, NC_000021.8:g.47391010T>C

Select item 148508932211.

rs1485089322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45973205 (GRCh38)
21:47393119 (GRCh37)
Canonical SPDI:: NC_000021.9:45973204:C:T
Gene:: LOC101928796 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.45973205C>T, NC_000021.8:g.47393119C>T

Select item 148490400212.

rs1484904002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:45973384 (GRCh38)
21:47393298 (GRCh37)
Canonical SPDI:: NC_000021.9:45973383:C:A
Gene:: LOC101928796 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000049/13 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000021.9:g.45973384C>A, NC_000021.8:g.47393298C>A

Select item 148484427913.

rs1484844279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:45974057 (GRCh38)
21:47393971 (GRCh37)
Canonical SPDI:: NC_000021.9:45974056:G:A,NC_000021.9:45974056:G:C
Gene:: LOC101928796 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.45974057G>A, NC_000021.9:g.45974057G>C, NC_000021.8:g.47393971G>A, NC_000021.8:g.47393971G>C

Select item 148465090414.

rs1484650904 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 21:45974324 (GRCh38)
21:47394238 (GRCh37)
Canonical SPDI:: NC_000021.9:45974321:TTTT:TT
Gene:: LOC101928796 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.45974324_45974325del, NC_000021.8:g.47394238_47394239del, NR_109931.1:n.438_439del

Select item 148319933515.

rs1483199335 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 21:45973652 (GRCh38)
21:47393567 (GRCh37)
Canonical SPDI:: NC_000021.9:45973652:T:TCT
Gene:: LOC101928796 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.45973653_45973654insCT, NC_000021.8:g.47393567_47393568insCT

Select item 148311322016.

rs1483113220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:45975068 (GRCh38)
21:47394982 (GRCh37)
Canonical SPDI:: NC_000021.9:45975067:G:A
Gene:: LOC101928796 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.45975068G>A, NC_000021.8:g.47394982G>A

Select item 148293590017.

rs1482935900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:45972767 (GRCh38)
21:47392681 (GRCh37)
Canonical SPDI:: NC_000021.9:45972766:C:G,NC_000021.9:45972766:C:T
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.45972767C>G, NC_000021.9:g.45972767C>T, NC_000021.8:g.47392681C>G, NC_000021.8:g.47392681C>T

Select item 148259514718.

rs1482595147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:45972667 (GRCh38)
21:47392581 (GRCh37)
Canonical SPDI:: NC_000021.9:45972666:C:T
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.45972667C>T, NC_000021.8:g.47392581C>T

Select item 148231485619.

rs1482314856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:45974888 (GRCh38)
21:47394802 (GRCh37)
Canonical SPDI:: NC_000021.9:45974887:G:A,NC_000021.9:45974887:G:C
Gene:: LOC101928796 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000021.9:g.45974888G>A, NC_000021.9:g.45974888G>C, NC_000021.8:g.47394802G>A, NC_000021.8:g.47394802G>C, NR_109931.1:n.1002G>A, NR_109931.1:n.1002G>C

Select item 148063037420.

rs1480630374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:45971822 (GRCh38)
21:47391736 (GRCh37)
Canonical SPDI:: NC_000021.9:45971821:A:T
Gene:: LOC101928796 (Varview)
Functional Consequence:: upstream_transcript_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_000021.9:g.45971822A>T, NC_000021.8:g.47391736A>T

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