SNP Links for Gene (Select 153364) - SNP

Links from Gene

Items: 1 to 20 of 4204

<< First< Prev

Page of 211

Next >Last >>

Select item 14915571561.

rs1491557156 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 5:90467754 (GRCh38)
5:89763571 (GRCh37)
Canonical SPDI:: NC_000005.10:90467752:GCG:G
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
-=0.000379/51 (GnomAD)
-=0.000885/15 (TOMMO)
-=0.003821/7 (Korea1K)
HGVS:: NC_000005.10:g.90467754_90467755del, NC_000005.9:g.89763571_89763572del

Select item 14911773602.

rs1491177360 has merged into rs1013371884 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG [Show Flanks]
Chromosome:: 5:90467746 (GRCh38)
5:89763563 (GRCh37)
Canonical SPDI:: NC_000005.10:90467745:GGGGGGGG:GGGGGGG,NC_000005.10:90467745:GGGGGGGG:GGGGGGGGG,NC_000005.10:90467745:GGGGGGGG:GGGGGGGGGG
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.00021/2 (TOMMO)
HGVS:: NC_000005.10:g.90467753del, NC_000005.10:g.90467753dup, NC_000005.10:g.90467752_90467753dup, NC_000005.9:g.89763570del, NC_000005.9:g.89763570dup, NC_000005.9:g.89763569_89763570dup

Select item 14910312403.

rs1491031240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 5:90475478 (GRCh38)
5:89771296 (GRCh37)
Canonical SPDI:: NC_000005.10:90475478:T:TGTT
Gene:: POLR3G (Varview), MBLAC2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGTT=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.90475479_90475480insGTT, NC_000005.9:g.89771296_89771297insGTT

Select item 14908847664.

rs1490884766 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:90465925 (GRCh38)
5:89761742 (GRCh37)
Canonical SPDI:: NC_000005.10:90465924:TT:T
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000005.10:g.90465926del, NC_000005.9:g.89761743del

Select item 14908800855.

rs1490880085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:90468122 (GRCh38)
5:89763939 (GRCh37)
Canonical SPDI:: NC_000005.10:90468121:G:T
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.90468122G>T, NC_000005.9:g.89763939G>T

Select item 14904744396.

rs1490474439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:90468751 (GRCh38)
5:89764568 (GRCh37)
Canonical SPDI:: NC_000005.10:90468750:A:C
Gene:: MBLAC2 (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.90468751A>C, NC_000005.9:g.89764568A>C

Select item 14904596327.

rs1490459632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:90460814 (GRCh38)
5:89756631 (GRCh37)
Canonical SPDI:: NC_000005.10:90460813:C:A
Gene:: MBLAC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000005.10:g.90460814C>A, NC_000005.9:g.89756631C>A, NM_203406.2:c.*353G>T, NM_203406.1:c.*353G>T

Select item 14901423348.

rs1490142334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:90465932 (GRCh38)
5:89761749 (GRCh37)
Canonical SPDI:: NC_000005.10:90465931:T:A
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.90465932T>A, NC_000005.9:g.89761749T>A

Select item 14901152869.

rs1490115286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:90467033 (GRCh38)
5:89762850 (GRCh37)
Canonical SPDI:: NC_000005.10:90467032:A:T
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.90467033A>T, NC_000005.9:g.89762850A>T

Select item 149006823110.

rs1490068231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:90466974 (GRCh38)
5:89762791 (GRCh37)
Canonical SPDI:: NC_000005.10:90466973:C:T
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000076/20 (TOPMED)
HGVS:: NC_000005.10:g.90466974C>T, NC_000005.9:g.89762791C>T

Select item 149005964711.

rs1490059647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:90469091 (GRCh38)
5:89764908 (GRCh37)
Canonical SPDI:: NC_000005.10:90469090:G:A,NC_000005.10:90469090:G:C
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
A=0.00007/1 (TOMMO)
A=0.00022/1 (Estonian)
HGVS:: NC_000005.10:g.90469091G>A, NC_000005.10:g.90469091G>C, NC_000005.9:g.89764908G>A, NC_000005.9:g.89764908G>C

Select item 148998456612.

rs1489984566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:90468274 (GRCh38)
5:89764091 (GRCh37)
Canonical SPDI:: NC_000005.10:90468273:C:T
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.90468274C>T, NC_000005.9:g.89764091C>T

Select item 148990036913.

rs1489900369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:90470392 (GRCh38)
5:89766209 (GRCh37)
Canonical SPDI:: NC_000005.10:90470391:C:G
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.90470392C>G, NC_000005.9:g.89766209C>G

Select item 148975936614.

rs1489759366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:90459190 (GRCh38)
5:89755007 (GRCh37)
Canonical SPDI:: NC_000005.10:90459189:T:C
Gene:: MBLAC2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.90459190T>C, NC_000005.9:g.89755007T>C, NM_203406.2:c.*1977A>G, NM_203406.1:c.*1977A>G

Select item 148965125815.

rs1489651258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:90474485 (GRCh38)
5:89770302 (GRCh37)
Canonical SPDI:: NC_000005.10:90474484:C:A,NC_000005.10:90474484:C:T
Gene:: POLR3G (Varview), MBLAC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.90474485C>A, NC_000005.10:g.90474485C>T, NC_000005.9:g.89770302C>A, NC_000005.9:g.89770302C>T, NM_203406.2:c.-193G>T, NM_203406.2:c.-193G>A, NM_203406.1:c.-193G>T, NM_203406.1:c.-193G>A

Select item 148948903116.

rs1489489031 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 5:90470568 (GRCh38)
5:89766385 (GRCh37)
Canonical SPDI:: NC_000005.10:90470567:GG:G
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.90470569del, NC_000005.9:g.89766386del

Select item 148931040617.

rs1489310406 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACAC>- [Show Flanks]
Chromosome:: 5:90470756 (GRCh38)
5:89766573 (GRCh37)
Canonical SPDI:: NC_000005.10:90470754:CGCACAC:C
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
-=0.000421/44 (GnomAD)
HGVS:: NC_000005.10:g.90470756_90470761del, NC_000005.9:g.89766573_89766578del

Select item 148928191918.

rs1489281919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:90470511 (GRCh38)
5:89766328 (GRCh37)
Canonical SPDI:: NC_000005.10:90470510:C:G
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.90470511C>G, NC_000005.9:g.89766328C>G

Select item 148906691819.

rs1489066918 has merged into rs550509518 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:90457761 (GRCh38)
5:89753578 (GRCh37)
Canonical SPDI:: NC_000005.10:90457760:TTTTTT:TTTTT,NC_000005.10:90457760:TTTTTT:TTTTTTT
Gene:: MBLAC2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0.00027/5 (ALFA)
-=0./0 (ALSPAC)
-=0.00031/2 (1000Genomes)
-=0.00112/5 (Estonian)
-=0.00162/6 (TWINSUK)
-=0.002/2 (GoNL)
-=0.00833/5 (NorthernSweden)
HGVS:: NC_000005.10:g.90457766del, NC_000005.10:g.90457766dup, NC_000005.9:g.89753583del, NC_000005.9:g.89753583dup

Select item 148890331620.

rs1488903316 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACACACACAC>- [Show Flanks]
Chromosome:: 5:90470756 (GRCh38)
5:89766573 (GRCh37)
Canonical SPDI:: NC_000005.10:90470754:CGCACACACACAC:C
Gene:: MBLAC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.90470756_90470767del, NC_000005.9:g.89766573_89766584del

<< First< Prev

Page of 211

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 4204

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity