SNP Links for Gene (Select 79169) - SNP

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Select item 14907647311.

rs1490764731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:228103189 (GRCh38)
1:228290890 (GRCh37)
Canonical SPDI:: NC_000001.11:228103188:C:G
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228103189C>G, NC_000001.10:g.228290890C>G, NM_024319.4:c.39G>C, NM_024319.3:c.39G>C, NM_024319.2:c.39G>C, NR_130975.2:n.137G>C, NR_130975.1:n.274G>C, NP_077295.1:p.Gln13His

Select item 14901824632.

rs1490182463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228102569 (GRCh38)
1:228290270 (GRCh37)
Canonical SPDI:: NC_000001.11:228102568:G:A
Gene:: C1orf35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.228102569G>A, NC_000001.10:g.228290270G>A

Select item 14895908313.

rs1489590831 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:228101191 (GRCh38)
1:228288892 (GRCh37)
Canonical SPDI:: NC_000001.11:228101190:T:
Gene:: C1orf35 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.228101191del, NC_000001.10:g.228288892del, NM_024319.4:c.732del, NM_024319.3:c.732del, NM_024319.2:c.732del, NR_130975.2:n.1010del, NR_130975.1:n.1147del, NP_077295.1:p.His245fs

Select item 14894046504.

rs1489404650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:228102511 (GRCh38)
1:228290212 (GRCh37)
Canonical SPDI:: NC_000001.11:228102510:C:T
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228102511C>T, NC_000001.10:g.228290212C>T, NM_024319.4:c.341G>A, NM_024319.3:c.341G>A, NM_024319.2:c.341G>A, NR_130975.2:n.439G>A, NR_130975.1:n.576G>A, NP_077295.1:p.Gly114Asp

Select item 14892041385.

rs1489204138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228101481 (GRCh38)
1:228289182 (GRCh37)
Canonical SPDI:: NC_000001.11:228101480:G:A
Gene:: C1orf35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000049/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228101481G>A, NC_000001.10:g.228289182G>A

Select item 14870866866.

rs1487086686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228100787 (GRCh38)
1:228288488 (GRCh37)
Canonical SPDI:: NC_000001.11:228100786:G:A
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.228100787G>A, NC_000001.10:g.228288488G>A, NM_024319.4:c.*344C>T, NM_024319.3:c.*344C>T, NM_024319.2:c.*344C>T, NR_130975.2:n.1414C>T, NR_130975.1:n.1551C>T

Select item 14868989337.

rs1486898933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:228103385 (GRCh38)
1:228291086 (GRCh37)
Canonical SPDI:: NC_000001.11:228103384:C:T
Gene:: C1orf35 (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_000001.11:g.228103385C>T, NC_000001.10:g.228291086C>T, NM_024319.3:c.-158G>A, NR_130975.1:n.78G>A

Select item 14857631068.

rs1485763106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:228102824 (GRCh38)
1:228290525 (GRCh37)
Canonical SPDI:: NC_000001.11:228102823:G:A,NC_000001.11:228102823:G:C,NC_000001.11:228102823:G:T
Gene:: C1orf35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.228102824G>A, NC_000001.11:g.228102824G>C, NC_000001.11:g.228102824G>T, NC_000001.10:g.228290525G>A, NC_000001.10:g.228290525G>C, NC_000001.10:g.228290525G>T

Select item 14853598939.

rs1485359893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228105025 (GRCh38)
1:228292726 (GRCh37)
Canonical SPDI:: NC_000001.11:228105024:G:A
Gene:: C1orf35 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.228105025G>A, NC_000001.10:g.228292726G>A

Select item 148523394410.

rs1485233944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228104203 (GRCh38)
1:228291904 (GRCh37)
Canonical SPDI:: NC_000001.11:228104202:G:A
Gene:: C1orf35 (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)
HGVS:: NC_000001.11:g.228104203G>A, NC_000001.10:g.228291904G>A

Select item 148519362911.

rs1485193629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:228100890 (GRCh38)
1:228288591 (GRCh37)
Canonical SPDI:: NC_000001.11:228100889:G:C
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_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_000001.11:g.228100890G>C, NC_000001.10:g.228288591G>C, NM_024319.4:c.*241C>G, NM_024319.3:c.*241C>G, NM_024319.2:c.*241C>G, NR_130975.2:n.1311C>G, NR_130975.1:n.1448C>G

Select item 148447555212.

rs1484475552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228102376 (GRCh38)
1:228290077 (GRCh37)
Canonical SPDI:: NC_000001.11:228102375:G:A
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.228102376G>A, NC_000001.10:g.228290077G>A, NM_024319.4:c.381C>T, NM_024319.3:c.381C>T, NM_024319.2:c.381C>T, NR_130975.2:n.479C>T, NR_130975.1:n.616C>T

Select item 148441945813.

rs1484419458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:228100561 (GRCh38)
1:228288262 (GRCh37)
Canonical SPDI:: NC_000001.11:228100560:G:A,NC_000001.11:228100560:G:C
Gene:: C1orf35 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.228100561G>A, NC_000001.11:g.228100561G>C, NC_000001.10:g.228288262G>A, NC_000001.10:g.228288262G>C

Select item 148364970714.

rs1483649707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:228103735 (GRCh38)
1:228291436 (GRCh37)
Canonical SPDI:: NC_000001.11:228103734:G:A,NC_000001.11:228103734:G:T
Gene:: C1orf35 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.228103735G>A, NC_000001.11:g.228103735G>T, NC_000001.10:g.228291436G>A, NC_000001.10:g.228291436G>T

Select item 148310966615.

rs1483109666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:228104941 (GRCh38)
1:228292642 (GRCh37)
Canonical SPDI:: NC_000001.11:228104940:C:T
Gene:: C1orf35 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000001.11:g.228104941C>T, NC_000001.10:g.228292642C>T

Select item 148265363516.

rs1482653635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:228104601 (GRCh38)
1:228292302 (GRCh37)
Canonical SPDI:: NC_000001.11:228104600:C:T
Gene:: C1orf35 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.228104601C>T, NC_000001.10:g.228292302C>T

Select item 148235294617.

rs1482352946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:228101259 (GRCh38)
1:228288960 (GRCh37)
Canonical SPDI:: NC_000001.11:228101258:G:A,NC_000001.11:228101258:G:C
Gene:: C1orf35 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.228101259G>A, NC_000001.11:g.228101259G>C, NC_000001.10:g.228288960G>A, NC_000001.10:g.228288960G>C

Select item 148124272718.

rs1481242727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:228103250 (GRCh38)
1:228290951 (GRCh37)
Canonical SPDI:: NC_000001.11:228103249:G:C
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.228103250G>C, NC_000001.10:g.228290951G>C, NM_024319.4:c.-23C>G, NM_024319.3:c.-23C>G, NM_024319.2:c.-23C>G, NR_130975.2:n.76C>G, NR_130975.1:n.213C>G

Select item 148032013219.

rs1480320132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228103257 (GRCh38)
1:228290958 (GRCh37)
Canonical SPDI:: NC_000001.11:228103256:G:A
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.228103257G>A, NC_000001.10:g.228290958G>A, NM_024319.4:c.-30C>T, NM_024319.3:c.-30C>T, NM_024319.2:c.-30C>T, NR_130975.2:n.69C>T, NR_130975.1:n.206C>T

Select item 148007142320.

rs1480071423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:228103017 (GRCh38)
1:228290718 (GRCh37)
Canonical SPDI:: NC_000001.11:228103016:G:A
Gene:: C1orf35 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.228103017G>A, NC_000001.10:g.228290718G>A, NM_024319.4:c.127C>T, NM_024319.3:c.127C>T, NM_024319.2:c.127C>T, NR_130975.2:n.225C>T, NR_130975.1:n.362C>T, NP_077295.1:p.Gln43Ter

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