SNP Links for Gene (Select 401067) - SNP

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Items: 1 to 20 of 1408

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Select item 14905199161.

rs1490519916 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 3:51827338 (GRCh38)
3:51861354 (GRCh37)
Canonical SPDI:: NC_000003.12:51827334:AAGAAG:AAG
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51827335AAG[1], NC_000003.11:g.51861351AAG[1], NM_001085479.3:c.-327AAG[1], NM_001085479.2:c.-327AAG[1]

Select item 14904588582.

rs1490458858 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14902293593.

rs1490229359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:51828317 (GRCh38)
3:51862333 (GRCh37)
Canonical SPDI:: NC_000003.12:51828316:A:G
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000067/9 (GnomAD)
HGVS:: NC_000003.12:g.51828317A>G, NC_000003.11:g.51862333A>G

Select item 14899748904.

rs1489974890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:51826990 (GRCh38)
3:51861006 (GRCh37)
Canonical SPDI:: NC_000003.12:51826989:G:A
Gene:: IQCF3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.51826990G>A, NC_000003.11:g.51861006G>A, NM_001085479.3:c.-672G>A, NM_001085479.2:c.-672G>A, NM_001207023.2:c.-639G>A, NM_001207023.1:c.-639G>A

Select item 14891793985.

rs1489179398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:51828071 (GRCh38)
3:51862087 (GRCh37)
Canonical SPDI:: NC_000003.12:51828070:A:G
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51828071A>G, NC_000003.11:g.51862087A>G

Select item 14878818716.

rs1487881871 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51827825 (GRCh38)
3:51861841 (GRCh37)
Canonical SPDI:: NC_000003.12:51827824:T:C
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51827825T>C, NC_000003.11:g.51861841T>C

Select item 14867746877.

rs1486774687 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14866989488.

rs1486698948 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:51830429 (GRCh38)
3:51864445 (GRCh37)
Canonical SPDI:: NC_000003.12:51830428:AAAAA:AAAA
Gene:: IQCF3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000003.12:g.51830433del, NC_000003.11:g.51864449del, NM_001085479.3:c.97del, NM_001085479.2:c.97del, NM_001207023.2:c.97del, NM_001207023.1:c.97del, NM_001393887.1:c.97del, NP_001078948.1:p.Arg33fs, NP_001193952.1:p.Arg33fs, NP_001380816.1:p.Arg33fs

Select item 14859078409.

rs1485907840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:51829523 (GRCh38)
3:51863539 (GRCh37)
Canonical SPDI:: NC_000003.12:51829522:G:A,NC_000003.12:51829522:G:T
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.51829523G>A, NC_000003.12:g.51829523G>T, NC_000003.11:g.51863539G>A, NC_000003.11:g.51863539G>T

Select item 148570213110.

rs1485702131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51829818 (GRCh38)
3:51863834 (GRCh37)
Canonical SPDI:: NC_000003.12:51829817:C:T
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.51829818C>T, NC_000003.11:g.51863834C>T

Select item 148520399511.

rs1485203995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:51829663 (GRCh38)
3:51863679 (GRCh37)
Canonical SPDI:: NC_000003.12:51829662:A:C,NC_000003.12:51829662:A:T
Gene:: IQCF3 (Varview)
Functional Consequence:: splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51829663A>C, NC_000003.12:g.51829663A>T, NC_000003.11:g.51863679A>C, NC_000003.11:g.51863679A>T

Select item 148511274412.

rs1485112744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:51829507 (GRCh38)
3:51863523 (GRCh37)
Canonical SPDI:: NC_000003.12:51829506:A:T
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51829507A>T, NC_000003.11:g.51863523A>T

Select item 148481274213.

rs1484812742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51828035 (GRCh38)
3:51862051 (GRCh37)
Canonical SPDI:: NC_000003.12:51828034:C:T
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00073/12 (ALFA)
HGVS:: NC_000003.12:g.51828035C>T, NC_000003.11:g.51862051C>T

Select item 148475032714.

rs1484750327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51830501 (GRCh38)
3:51864517 (GRCh37)
Canonical SPDI:: NC_000003.12:51830500:T:C
Gene:: IQCF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.51830501T>C, NC_000003.11:g.51864517T>C, NM_001085479.3:c.165T>C, NM_001085479.2:c.165T>C, NM_001207023.2:c.165T>C, NM_001207023.1:c.165T>C, NM_001393887.1:c.165T>C

Select item 148472064915.

rs1484720649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:51829333 (GRCh38)
3:51863349 (GRCh37)
Canonical SPDI:: NC_000003.12:51829332:G:A,NC_000003.12:51829332:G:C
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_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_000003.12:g.51829333G>A, NC_000003.12:g.51829333G>C, NC_000003.11:g.51863349G>A, NC_000003.11:g.51863349G>C

Select item 148294071016.

rs1482940710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:51827324 (GRCh38)
3:51861340 (GRCh37)
Canonical SPDI:: NC_000003.12:51827323:C:T
Gene:: IQCF3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000003.12:g.51827324C>T, NC_000003.11:g.51861340C>T, NM_001085479.3:c.-338C>T, NM_001085479.2:c.-338C>T

Select item 148274357517.

rs1482743575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51828174 (GRCh38)
3:51862190 (GRCh37)
Canonical SPDI:: NC_000003.12:51828173:T:C
Gene:: IQCF3 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000003.12:g.51828174T>C, NC_000003.11:g.51862190T>C, NM_001085479.3:c.-296T>C, NM_001085479.2:c.-296T>C, NM_001207023.2:c.-296T>C, NM_001207023.1:c.-296T>C

Select item 148186294718.

rs1481862947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:51826741 (GRCh38)
3:51860757 (GRCh37)
Canonical SPDI:: NC_000003.12:51826740:C:A,NC_000003.12:51826740:C:T
Gene:: IQCF3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.51826741C>A, NC_000003.12:g.51826741C>T, NC_000003.11:g.51860757C>A, NC_000003.11:g.51860757C>T

Select item 148148274019.

rs1481482740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:51830698 (GRCh38)
3:51864714 (GRCh37)
Canonical SPDI:: NC_000003.12:51830697:T:C
Gene:: IQCF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.51830698T>C, NC_000003.11:g.51864714T>C, NM_001085479.3:c.362T>C, NM_001085479.2:c.362T>C, NM_001207023.2:c.362T>C, NM_001207023.1:c.362T>C, NM_001393887.1:c.362T>C, NP_001078948.1:p.Val121Ala, NP_001193952.1:p.Val121Ala, NP_001380816.1:p.Val121Ala

Select item 148112585920.

rs1481125859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:51827055 (GRCh38)
3:51861071 (GRCh37)
Canonical SPDI:: NC_000003.12:51827054:A:G
Gene:: IQCF3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.51827055A>G, NC_000003.11:g.51861071A>G, NM_001085479.3:c.-607A>G, NM_001085479.2:c.-607A>G, NM_001207023.2:c.-574A>G, NM_001207023.1:c.-574A>G

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