SNP Links for Gene (Select 153745) - SNP

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Items: 1 to 20 of 1755

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Select item 14908255231.

rs1490825523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:157162417 (GRCh38)
5:156589428 (GRCh37)
Canonical SPDI:: NC_000005.10:157162416:T:A
Gene:: GARIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.157162417T>A, NC_000005.9:g.156589428T>A, NM_130899.3:c.*30A>T, NM_130899.2:c.*30A>T

Select item 14906785072.

rs1490678507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157166595 (GRCh38)
5:156593606 (GRCh37)
Canonical SPDI:: NC_000005.10:157166594:T:C
Gene:: GARIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157166595T>C, NC_000005.9:g.156593606T>C

Select item 14906474983.

rs1490647498 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:157163440 (GRCh38)
5:156590452 (GRCh37)
Canonical SPDI:: NC_000005.10:157163440:G:GG
Gene:: GARIN3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.00008/1 (GoESP)
HGVS:: NC_000005.10:g.157163441dup, NC_000005.9:g.156590452dup, NM_130899.3:c.824dup, NM_130899.2:c.824dup, NP_570969.2:p.Thr276fs

Select item 14897769684.

rs1489776968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157164521 (GRCh38)
5:156591532 (GRCh37)
Canonical SPDI:: NC_000005.10:157164520:T:C
Gene:: GARIN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.157164521T>C, NC_000005.9:g.156591532T>C

Select item 14883670985.

rs1488367098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:157164592 (GRCh38)
5:156591603 (GRCh37)
Canonical SPDI:: NC_000005.10:157164591:A:T
Gene:: GARIN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.157164592A>T, NC_000005.9:g.156591603A>T

Select item 14882495526.

rs1488249552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157163956 (GRCh38)
5:156590967 (GRCh37)
Canonical SPDI:: NC_000005.10:157163955:C:T
Gene:: GARIN3 (Varview)
Functional Consequence:: intron_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_000005.10:g.157163956C>T, NC_000005.9:g.156590967C>T

Select item 14875089507.

rs1487508950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157164394 (GRCh38)
5:156591405 (GRCh37)
Canonical SPDI:: NC_000005.10:157164393:C:T
Gene:: GARIN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000057/15 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000005.10:g.157164394C>T, NC_000005.9:g.156591405C>T

Select item 14874225528.

rs1487422552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:157167678 (GRCh38)
5:156594689 (GRCh37)
Canonical SPDI:: NC_000005.10:157167677:C:G
Gene:: GARIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157167678C>G, NC_000005.9:g.156594689C>G

Select item 14871091149.

rs1487109114 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 5:157166194 (GRCh38)
5:156593205 (GRCh37)
Canonical SPDI:: NC_000005.10:157166193:A:
Gene:: GARIN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.000009/2 (GnomAD_exomes)
-=0.001639/3 (Korea1K)
HGVS:: NC_000005.10:g.157166194del, NC_000005.9:g.156593205del, NM_130899.3:c.-26del, NM_130899.2:c.-26del

Select item 148699221010.

rs1486992210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:157166247 (GRCh38)
5:156593258 (GRCh37)
Canonical SPDI:: NC_000005.10:157166246:T:C
Gene:: GARIN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.157166247T>C, NC_000005.9:g.156593258T>C, NM_130899.3:c.-79A>G, NM_130899.2:c.-79A>G

Select item 148586932611.

rs1485869326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:157162243 (GRCh38)
5:156589254 (GRCh37)
Canonical SPDI:: NC_000005.10:157162242:G:T
Gene:: GARIN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.157162243G>T, NC_000005.9:g.156589254G>T, NM_130899.3:c.*204C>A

Select item 148510583212.

rs1485105832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157166839 (GRCh38)
5:156593850 (GRCh37)
Canonical SPDI:: NC_000005.10:157166838:C:T
Gene:: GARIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.157166839C>T, NC_000005.9:g.156593850C>T

Select item 148503857013.

rs1485038570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:157165190 (GRCh38)
5:156592201 (GRCh37)
Canonical SPDI:: NC_000005.10:157165189:C:A
Gene:: GARIN3 (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.157165190C>A, NC_000005.9:g.156592201C>A

Select item 148482210714.

rs1484822107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:157167940 (GRCh38)
5:156594951 (GRCh37)
Canonical SPDI:: NC_000005.10:157167939:A:T
Gene:: GARIN3 (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_000005.10:g.157167940A>T, NC_000005.9:g.156594951A>T

Select item 148456022715.

rs1484560227 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:157167896 (GRCh38)
5:156594907 (GRCh37)
Canonical SPDI:: NC_000005.10:157167895:A:C,NC_000005.10:157167895:A:G
Gene:: GARIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/12 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.157167896A>C, NC_000005.10:g.157167896A>G, NC_000005.9:g.156594907A>C, NC_000005.9:g.156594907A>G

Select item 148433854416.

rs1484338544 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 5:157167512 (GRCh38)
5:156594524 (GRCh37)
Canonical SPDI:: NC_000005.10:157167512:TTTTGTTTTGTTTTGTTTT:TTTTGTTTTGTTTTGTTTTGTTTT
Gene:: GARIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTTGTTTTGTTTTGTTTTGTTTT=0.00007/1 (ALFA)
HGVS:: NC_000005.10:g.157167517GTTTT[4], NC_000005.9:g.156594528GTTTT[4]

Select item 148293957817.

rs1482939578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:157163625 (GRCh38)
5:156590636 (GRCh37)
Canonical SPDI:: NC_000005.10:157163624:C:T
Gene:: GARIN3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.157163625C>T, NC_000005.9:g.156590636C>T, NM_130899.3:c.640G>A, NM_130899.2:c.640G>A, NP_570969.2:p.Glu214Lys

Select item 148283540218.

rs1482835402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157168046 (GRCh38)
5:156595057 (GRCh37)
Canonical SPDI:: NC_000005.10:157168045:A:G
Gene:: GARIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.157168046A>G, NC_000005.9:g.156595057A>G

Select item 148280744319.

rs1482807443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:157167007 (GRCh38)
5:156594018 (GRCh37)
Canonical SPDI:: NC_000005.10:157167006:A:G
Gene:: GARIN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.157167007A>G, NC_000005.9:g.156594018A>G

Select item 148264260920.

rs1482642609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:157164181 (GRCh38)
5:156591192 (GRCh37)
Canonical SPDI:: NC_000005.10:157164180:G:A,NC_000005.10:157164180:G:T
Gene:: GARIN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
T=0.018151/53 (KOREAN)
HGVS:: NC_000005.10:g.157164181G>A, NC_000005.10:g.157164181G>T, NC_000005.9:g.156591192G>A, NC_000005.9:g.156591192G>T

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