SNP Links for Gene (Select 27293) - SNP

Links from Gene

Items: 1 to 20 of 5738

<< First< Prev

Page of 287

Next >Last >>

Select item 14915372981.

rs1491537298 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:27947653 (GRCh38)
1:28274164 (GRCh37)
Canonical SPDI:: NC_000001.11:27947651:TGT:T
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00007/6 (GnomAD)
HGVS:: NC_000001.11:g.27947653_27947654del, NC_000001.10:g.28274164_28274165del

Select item 14915144692.

rs1491514469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:27933547 (GRCh38)
1:28260059 (GRCh37)
Canonical SPDI:: NC_000001.11:27933547:A:ACA
Gene:: SMPDL3B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.27933548_27933549insCA, NC_000001.10:g.28260059_28260060insCA

Select item 14914796693.

rs1491479669 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA [Show Flanks]
Chromosome:: 1:27937021 (GRCh38)
1:28263533 (GRCh37)
Canonical SPDI:: NC_000001.11:27937021:AAA:AAACAAA
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.27937024_27937025insCAAA, NC_000001.10:g.28263535_28263536insCAAA

Select item 14911221434.

rs1491122143 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:27947652 (GRCh38)
1:28274164 (GRCh37)
Canonical SPDI:: NC_000001.11:27947652:G:GG
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27947653dup, NC_000001.10:g.28274164dup

Select item 14909458125.

rs1490945812 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:27936742 (GRCh38)
1:28263254 (GRCh37)
Canonical SPDI:: NC_000001.11:27936742::GT
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GT=0./0 (GnomAD)
HGVS:: NC_000001.11:g.27936742_27936743insGT, NC_000001.10:g.28263253_28263254insGT

Select item 14909327456.

rs1490932745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27934487 (GRCh38)
1:28260998 (GRCh37)
Canonical SPDI:: NC_000001.11:27934486:C:T
Gene:: SMPDL3B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000177/3 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.27934487C>T, NC_000001.10:g.28260998C>T

Select item 14909143817.

rs1490914381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27953199 (GRCh38)
1:28279710 (GRCh37)
Canonical SPDI:: NC_000001.11:27953198:C:T
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27953199C>T, NC_000001.10:g.28279710C>T

Select item 14906320168.

rs1490632016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27959070 (GRCh38)
1:28285581 (GRCh37)
Canonical SPDI:: NC_000001.11:27959069:A:G
Gene:: SMPDL3B (Varview), XKR8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.27959070A>G, NC_000001.10:g.28285581A>G, NM_014474.4:c.*232A>G, NM_014474.3:c.*232A>G, NM_014474.2:c.*232A>G, XM_011541259.3:c.*232A>G, XM_011541259.2:c.*232A>G, XM_011541259.1:c.*232A>G, NM_001304579.2:c.*232A>G, NM_001304579.1:c.*232A>G

Select item 14906083479.

rs1490608347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:27942630 (GRCh38)
1:28269141 (GRCh37)
Canonical SPDI:: NC_000001.11:27942629:G:C,NC_000001.11:27942629:G:T
Gene:: SMPDL3B (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_000001.11:g.27942630G>C, NC_000001.11:g.27942630G>T, NC_000001.10:g.28269141G>C, NC_000001.10:g.28269141G>T

Select item 149042379410.

rs1490423794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27954417 (GRCh38)
1:28280928 (GRCh37)
Canonical SPDI:: NC_000001.11:27954416:C:T
Gene:: SMPDL3B (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27954417C>T, NC_000001.10:g.28280928C>T, NM_014474.4:c.581C>T, NM_014474.3:c.581C>T, NM_014474.2:c.581C>T, XM_011541259.3:c.671C>T, XM_011541259.2:c.671C>T, XM_011541259.1:c.671C>T, NM_001009568.3:c.581C>T, NM_001009568.2:c.581C>T, NM_001009568.1:c.581C>T, NM_001304579.2:c.-38C>T, NM_001304579.1:c.-38C>T, NP_055289.2:p.Thr194Ile, XP_011539561.1:p.Thr224Ile, NP_001009568.1:p.Thr194Ile

Select item 149009006611.

rs1490090066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:27958207 (GRCh38)
1:28284718 (GRCh37)
Canonical SPDI:: NC_000001.11:27958206:C:A,NC_000001.11:27958206:C:T
Gene:: SMPDL3B (Varview), XKR8 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_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_000001.11:g.27958207C>A, NC_000001.11:g.27958207C>T, NC_000001.10:g.28284718C>A, NC_000001.10:g.28284718C>T

Select item 148996295312.

rs1489962953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:27939203 (GRCh38)
1:28265714 (GRCh37)
Canonical SPDI:: NC_000001.11:27939202:C:A,NC_000001.11:27939202:C:G
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27939203C>A, NC_000001.11:g.27939203C>G, NC_000001.10:g.28265714C>A, NC_000001.10:g.28265714C>G

Select item 148978920913.

rs1489789209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27952884 (GRCh38)
1:28279395 (GRCh37)
Canonical SPDI:: NC_000001.11:27952883:G:A
Gene:: SMPDL3B (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_000001.11:g.27952884G>A, NC_000001.10:g.28279395G>A

Select item 148978103914.

rs1489781039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27939293 (GRCh38)
1:28265804 (GRCh37)
Canonical SPDI:: NC_000001.11:27939292:C:T
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.27939293C>T, NC_000001.10:g.28265804C>T

Select item 148970547815.

rs1489705478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:27934956 (GRCh38)
1:28261467 (GRCh37)
Canonical SPDI:: NC_000001.11:27934955:A:C,NC_000001.11:27934955:A:G
Gene:: SMPDL3B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27934956A>C, NC_000001.11:g.27934956A>G, NC_000001.10:g.28261467A>C, NC_000001.10:g.28261467A>G, NM_014474.3:c.-228A>C, NM_014474.3:c.-228A>G, NM_001009568.2:c.-228A>C, NM_001009568.2:c.-228A>G, NM_001304579.1:c.-917A>C, NM_001304579.1:c.-917A>G

Select item 148965249616.

rs1489652496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27954045 (GRCh38)
1:28280556 (GRCh37)
Canonical SPDI:: NC_000001.11:27954044:G:A
Gene:: SMPDL3B (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_000001.11:g.27954045G>A, NC_000001.10:g.28280556G>A

Select item 148958221117.

rs1489582211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:27949166 (GRCh38)
1:28275677 (GRCh37)
Canonical SPDI:: NC_000001.11:27949165:A:C
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.27949166A>C, NC_000001.10:g.28275677A>C

Select item 148942663318.

rs1489426633 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGATTAAAT>- [Show Flanks]
Chromosome:: 1:27951958 (GRCh38)
1:28278469 (GRCh37)
Canonical SPDI:: NC_000001.11:27951955:ATGAGGATTAAAT:AT
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27951958_27951968del, NC_000001.10:g.28278469_28278479del

Select item 148938003719.

rs1489380037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27944322 (GRCh38)
1:28270833 (GRCh37)
Canonical SPDI:: NC_000001.11:27944321:C:T
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27944322C>T, NC_000001.10:g.28270833C>T

Select item 148919679420.

rs1489196794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27957428 (GRCh38)
1:28283939 (GRCh37)
Canonical SPDI:: NC_000001.11:27957427:C:T
Gene:: SMPDL3B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27957428C>T, NC_000001.10:g.28283939C>T

<< First< Prev

Page of 287

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 5738

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity