SNP Links for Gene (Select 102467216) - SNP

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Items: 1 to 20 of 7720

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Select item 14913111061.

rs1491311106 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:112667471 (GRCh38)
5:112003168 (GRCh37)
Canonical SPDI:: NC_000005.10:112667470:CT:
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.112667471_112667472del, NC_000005.9:g.112003168_112003169del

Select item 14909618982.

rs1490961898 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAGT>- [Show Flanks]
Chromosome:: 5:112656314 (GRCh38)
5:111992011 (GRCh37)
Canonical SPDI:: NC_000005.10:112656310:AGTTAGT:AGT
Gene:: LOC102467216 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGT=0.000071/1 (ALFA)
-=0.000042/11 (TOPMED)
-=0.000071/10 (GnomAD)
HGVS:: NC_000005.10:g.112656314_112656317del, NC_000005.9:g.111992011_111992014del

Select item 14908849613.

rs1490884961 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:112665062 (GRCh38)
5:112000759 (GRCh37)
Canonical SPDI:: NC_000005.10:112665061:CCC:CC
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.112665064del, NC_000005.9:g.112000761del

Select item 14908015464.

rs1490801546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:112672992 (GRCh38)
5:112008689 (GRCh37)
Canonical SPDI:: NC_000005.10:112672991:A:G
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.112672992A>G, NC_000005.9:g.112008689A>G

Select item 14907639445.

rs1490763944 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGACGAAGG [Show Flanks]
Chromosome:: 5:112658555 (GRCh38)
5:111994253 (GRCh37)
Canonical SPDI:: NC_000005.10:112658555:AAGGAAGACGAAGG:AAGGAAGACGAAGGAAGACGAAGG
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAGACGAAGGAAGACGAAGG=0./0 (ALFA)
AAGGAAGACG=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.112658560_112658569dup, NC_000005.9:g.111994257_111994266dup

Select item 14906717826.

rs1490671782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112672119 (GRCh38)
5:112007816 (GRCh37)
Canonical SPDI:: NC_000005.10:112672118:T:C
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000005.10:g.112672119T>C, NC_000005.9:g.112007816T>C

Select item 14905489607.

rs1490548960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:112683606 (GRCh38)
5:112019303 (GRCh37)
Canonical SPDI:: NC_000005.10:112683605:G:A
Gene:: LOC102467216 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.112683606G>A, NC_000005.9:g.112019303G>A

Select item 14904364758.

rs1490436475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:112677957 (GRCh38)
5:112013654 (GRCh37)
Canonical SPDI:: NC_000005.10:112677956:G:A
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.112677957G>A, NC_000005.9:g.112013654G>A

Select item 14904176679.

rs1490417667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:112684836 (GRCh38)
5:112020533 (GRCh37)
Canonical SPDI:: NC_000005.10:112684835:C:T
Gene:: LOC102467216 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.112684836C>T, NC_000005.9:g.112020533C>T

Select item 149031305610.

rs1490313056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112672354 (GRCh38)
5:112008051 (GRCh37)
Canonical SPDI:: NC_000005.10:112672353:T:C
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.112672354T>C, NC_000005.9:g.112008051T>C

Select item 149020017711.

rs1490200177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:112670568 (GRCh38)
5:112006265 (GRCh37)
Canonical SPDI:: NC_000005.10:112670567:C:T
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.112670568C>T, NC_000005.9:g.112006265C>T

Select item 149005738112.

rs1490057381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:112684033 (GRCh38)
5:112019730 (GRCh37)
Canonical SPDI:: NC_000005.10:112684032:G:A
Gene:: LOC102467216 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.112684033G>A, NC_000005.9:g.112019730G>A

Select item 149004025113.

rs1490040251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:112673187 (GRCh38)
5:112008884 (GRCh37)
Canonical SPDI:: NC_000005.10:112673186:T:A,NC_000005.10:112673186:T:C
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.112673187T>A, NC_000005.10:g.112673187T>C, NC_000005.9:g.112008884T>A, NC_000005.9:g.112008884T>C

Select item 148996991514.

rs1489969915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:112679017 (GRCh38)
5:112014714 (GRCh37)
Canonical SPDI:: NC_000005.10:112679016:G:A,NC_000005.10:112679016:G:T
Gene:: LOC102467216 (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)
A=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.112679017G>A, NC_000005.10:g.112679017G>T, NC_000005.9:g.112014714G>A, NC_000005.9:g.112014714G>T

Select item 148990814915.

rs1489908149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112665915 (GRCh38)
5:112001612 (GRCh37)
Canonical SPDI:: NC_000005.10:112665914:T:C
Gene:: LOC102467216 (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.112665915T>C, NC_000005.9:g.112001612T>C

Select item 148958825916.

rs1489588259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112657588 (GRCh38)
5:111993285 (GRCh37)
Canonical SPDI:: NC_000005.10:112657587:T:C
Gene:: LOC102467216 (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)
C=0.000684/2 (KOREAN)
HGVS:: NC_000005.10:g.112657588T>C, NC_000005.9:g.111993285T>C

Select item 148957990317.

rs1489579903 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGTACCACT [Show Flanks]
Chromosome:: 5:112676077 (GRCh38)
5:112011775 (GRCh37)
Canonical SPDI:: NC_000005.10:112676077:CT:CTTTGTACCACT
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTGTACCACT=0.000253/3 (ALFA)
CTTTGTACCA=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.112676079_112676080insTTGTACCACT, NC_000005.9:g.112011776_112011777insTTGTACCACT

Select item 148945619218.

rs1489456192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:112670361 (GRCh38)
5:112006058 (GRCh37)
Canonical SPDI:: NC_000005.10:112670360:T:C
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.112670361T>C, NC_000005.9:g.112006058T>C

Select item 148937967719.

rs1489379677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:112682215 (GRCh38)
5:112017912 (GRCh37)
Canonical SPDI:: NC_000005.10:112682214:A:T
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000142/2 (TOMMO)
T=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.112682215A>T, NC_000005.9:g.112017912A>T

Select item 148936491720.

rs1489364917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:112656790 (GRCh38)
5:111992487 (GRCh37)
Canonical SPDI:: NC_000005.10:112656789:G:A
Gene:: LOC102467216 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.112656790G>A, NC_000005.9:g.111992487G>A

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