SNP Links for Gene (Select 58506) - SNP

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Select item 14908432171.

rs1490843217 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 19:49658521 (GRCh38)
19:50161778 (GRCh37)
Canonical SPDI:: NC_000019.10:49658517:GAGGAG:GAG
Gene:: SCAF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GAGGAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49658518GAG[1], NC_000019.9:g.50161775GAG[1], NG_031810.1:g.12353CTC[1], XM_005259122.6:c.*119GAG[1], XM_005259122.5:c.*119GAG[1], XM_005259122.4:c.*119GAG[1], XM_005259122.3:c.*119GAG[1], XM_005259122.2:c.*119GAG[1], XM_005259122.1:c.*119GAG[1], XM_011527194.4:c.*119GAG[1], XM_011527194.3:c.*119GAG[1], XM_011527194.2:c.*119GAG[1], XM_011527194.1:c.*119GAG[1], NM_021228.3:c.*119GAG[1], NM_021228.2:c.*119GAG[1], XM_017027083.3:c.*119GAG[1], XM_017027083.2:c.*119GAG[1], XM_017027083.1:c.*119GAG[1]

Select item 14905019302.

rs1490501930 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49659031 (GRCh38)
19:50162288 (GRCh37)
Canonical SPDI:: NC_000019.10:49659030:A:G
Gene:: SCAF1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000019.10:g.49659031A>G, NC_000019.9:g.50162288A>G, NG_031810.1:g.11845T>C

Select item 14903536773.

rs1490353677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49658043 (GRCh38)
19:50161300 (GRCh37)
Canonical SPDI:: NC_000019.10:49658042:C:T
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49658043C>T, NC_000019.9:g.50161300C>T, NG_031810.1:g.12833G>A

Select item 14898881044.

rs1489888104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:49651892 (GRCh38)
19:50155149 (GRCh37)
Canonical SPDI:: NC_000019.10:49651891:G:C,NC_000019.10:49651891:G:T
Gene:: SCAF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00016/1 (1000Genomes)
C=0.00022/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49651892G>C, NC_000019.10:g.49651892G>T, NC_000019.9:g.50155149G>C, NC_000019.9:g.50155149G>T, XM_005259122.6:c.1503G>C, XM_005259122.6:c.1503G>T, XM_005259122.5:c.1503G>C, XM_005259122.5:c.1503G>T, XM_005259122.4:c.1503G>C, XM_005259122.4:c.1503G>T, XM_005259122.3:c.1503G>C, XM_005259122.3:c.1503G>T, XM_005259122.2:c.1503G>C, XM_005259122.2:c.1503G>T, XM_005259122.1:c.1503G>C, XM_005259122.1:c.1503G>T, XM_011527194.4:c.1512G>C, XM_011527194.4:c.1512G>T, XM_011527194.3:c.1512G>C, XM_011527194.3:c.1512G>T, XM_011527194.2:c.1512G>C, XM_011527194.2:c.1512G>T, XM_011527194.1:c.1512G>C, XM_011527194.1:c.1512G>T, NM_021228.3:c.1503G>C, NM_021228.3:c.1503G>T, NM_021228.2:c.1503G>C, NM_021228.2:c.1503G>T, XM_017027083.3:c.1233G>C, XM_017027083.3:c.1233G>T, XM_017027083.2:c.1233G>C, XM_017027083.2:c.1233G>T, XM_017027083.1:c.1233G>C, XM_017027083.1:c.1233G>T

Select item 14898227705.

rs1489822770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:49652130 (GRCh38)
19:50155387 (GRCh37)
Canonical SPDI:: NC_000019.10:49652129:C:A,NC_000019.10:49652129:C:T
Gene:: SCAF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
T=0.000034/9 (TOPMED)
A=0.007974/10 (KOREAN)
HGVS:: NC_000019.10:g.49652130C>A, NC_000019.10:g.49652130C>T, NC_000019.9:g.50155387C>A, NC_000019.9:g.50155387C>T, XM_005259122.6:c.1741C>A, XM_005259122.6:c.1741C>T, XM_005259122.5:c.1741C>A, XM_005259122.5:c.1741C>T, XM_005259122.4:c.1741C>A, XM_005259122.4:c.1741C>T, XM_005259122.3:c.1741C>A, XM_005259122.3:c.1741C>T, XM_005259122.2:c.1741C>A, XM_005259122.2:c.1741C>T, XM_005259122.1:c.1741C>A, XM_005259122.1:c.1741C>T, XM_011527194.4:c.1750C>A, XM_011527194.4:c.1750C>T, XM_011527194.3:c.1750C>A, XM_011527194.3:c.1750C>T, XM_011527194.2:c.1750C>A, XM_011527194.2:c.1750C>T, XM_011527194.1:c.1750C>A, XM_011527194.1:c.1750C>T, NM_021228.3:c.1741C>A, NM_021228.3:c.1741C>T, NM_021228.2:c.1741C>A, NM_021228.2:c.1741C>T, XM_017027083.3:c.1471C>A, XM_017027083.3:c.1471C>T, XM_017027083.2:c.1471C>A, XM_017027083.2:c.1471C>T, XM_017027083.1:c.1471C>A, XM_017027083.1:c.1471C>T, XP_005259179.1:p.Arg581Ser, XP_005259179.1:p.Arg581Cys, XP_011525496.1:p.Arg584Ser, XP_011525496.1:p.Arg584Cys, NP_067051.2:p.Arg581Ser, NP_067051.2:p.Arg581Cys, XP_016882572.1:p.Arg491Ser, XP_016882572.1:p.Arg491Cys

Select item 14894575176.

rs1489457517 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:49656169 (GRCh38)
19:50159426 (GRCh37)
Canonical SPDI:: NC_000019.10:49656168:CCCCC:CCCC
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000044/5 (GnomAD)
HGVS:: NC_000019.10:g.49656173del, NC_000019.9:g.50159430del

Select item 14893853317.

rs1489385331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49654219 (GRCh38)
19:50157476 (GRCh37)
Canonical SPDI:: NC_000019.10:49654218:T:G
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49654219T>G, NC_000019.9:g.50157476T>G

Select item 14892858068.

rs1489285806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49646105 (GRCh38)
19:50149362 (GRCh37)
Canonical SPDI:: NC_000019.10:49646104:C:T
Gene:: SCAF1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49646105C>T, NC_000019.9:g.50149362C>T

Select item 14888884459.

rs1488888445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:49647828 (GRCh38)
19:50151085 (GRCh37)
Canonical SPDI:: NC_000019.10:49647827:T:A
Gene:: SCAF1 (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_000019.10:g.49647828T>A, NC_000019.9:g.50151085T>A

Select item 148879195010.

rs1488791950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49647396 (GRCh38)
19:50150653 (GRCh37)
Canonical SPDI:: NC_000019.10:49647395:A:G
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49647396A>G, NC_000019.9:g.50150653A>G

Select item 148851196111.

rs1488511961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49646382 (GRCh38)
19:50149639 (GRCh37)
Canonical SPDI:: NC_000019.10:49646381:G:A
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49646382G>A, NC_000019.9:g.50149639G>A

Select item 148843963512.

rs1488439635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:49653094 (GRCh38)
19:50156351 (GRCh37)
Canonical SPDI:: NC_000019.10:49653093:T:A
Gene:: SCAF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49653094T>A, NC_000019.9:g.50156351T>A, XM_005259122.6:c.2705T>A, XM_005259122.5:c.2705T>A, XM_005259122.4:c.2705T>A, XM_005259122.3:c.2705T>A, XM_005259122.2:c.2705T>A, XM_005259122.1:c.2705T>A, XM_011527194.4:c.2714T>A, XM_011527194.3:c.2714T>A, XM_011527194.2:c.2714T>A, XM_011527194.1:c.2714T>A, NM_021228.3:c.2705T>A, NM_021228.2:c.2705T>A, XM_017027083.3:c.2435T>A, XM_017027083.2:c.2435T>A, XM_017027083.1:c.2435T>A, XP_005259179.1:p.Val902Asp, XP_011525496.1:p.Val905Asp, NP_067051.2:p.Val902Asp, XP_016882572.1:p.Val812Asp

Select item 148827558913.

rs1488275589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49651860 (GRCh38)
19:50155117 (GRCh37)
Canonical SPDI:: NC_000019.10:49651859:C:T
Gene:: SCAF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.49651860C>T, NC_000019.9:g.50155117C>T, XM_005259122.6:c.1471C>T, XM_005259122.5:c.1471C>T, XM_005259122.4:c.1471C>T, XM_005259122.3:c.1471C>T, XM_005259122.2:c.1471C>T, XM_005259122.1:c.1471C>T, XM_011527194.4:c.1480C>T, XM_011527194.3:c.1480C>T, XM_011527194.2:c.1480C>T, XM_011527194.1:c.1480C>T, NM_021228.3:c.1471C>T, NM_021228.2:c.1471C>T, XM_017027083.3:c.1201C>T, XM_017027083.2:c.1201C>T, XM_017027083.1:c.1201C>T, XP_005259179.1:p.Arg491Trp, XP_011525496.1:p.Arg494Trp, NP_067051.2:p.Arg491Trp, XP_016882572.1:p.Arg401Trp

Select item 148803393014.

rs1488033930 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:49655342 (GRCh38)
19:50158599 (GRCh37)
Canonical SPDI:: NC_000019.10:49655336:TCTCTCT:TCTCT
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0.000066/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.49655338CT[2], NC_000019.9:g.50158595CT[2]

Select item 148800583915.

rs1488005839 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:49641234 (GRCh38)
19:50144491 (GRCh37)
Canonical SPDI:: NC_000019.10:49641231:CTCT:CT
Gene:: RRAS (Varview), SCAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49641232CT[1], NC_000019.9:g.50144489CT[1], NG_042222.1:g.3909AG[1]

Select item 148775862116.

rs1487758621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49643163 (GRCh38)
19:50146420 (GRCh37)
Canonical SPDI:: NC_000019.10:49643162:C:T
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49643163C>T, NC_000019.9:g.50146420C>T, NG_042222.1:g.1981G>A

Select item 148775246017.

rs1487752460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:49654702 (GRCh38)
19:50157959 (GRCh37)
Canonical SPDI:: NC_000019.10:49654701:T:G
Gene:: SCAF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.49654702T>G, NC_000019.9:g.50157959T>G, XM_005259122.6:c.3450T>G, XM_005259122.5:c.3450T>G, XM_005259122.4:c.3450T>G, XM_005259122.3:c.3450T>G, XM_005259122.2:c.3450T>G, XM_005259122.1:c.3450T>G, XM_011527194.4:c.3459T>G, XM_011527194.3:c.3459T>G, XM_011527194.2:c.3459T>G, XM_011527194.1:c.3459T>G, NM_021228.3:c.3450T>G, NM_021228.2:c.3450T>G, XM_017027083.3:c.3180T>G, XM_017027083.2:c.3180T>G, XM_017027083.1:c.3180T>G

Select item 148767661518.

rs1487676615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49657059 (GRCh38)
19:50160316 (GRCh37)
Canonical SPDI:: NC_000019.10:49657058:T:C
Gene:: SCAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.49657059T>C, NC_000019.9:g.50160316T>C

Select item 148755679519.

rs1487556795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:49654379 (GRCh38)
19:50157636 (GRCh37)
Canonical SPDI:: NC_000019.10:49654378:C:A,NC_000019.10:49654378:C:G
Gene:: SCAF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49654379C>A, NC_000019.10:g.49654379C>G, NC_000019.9:g.50157636C>A, NC_000019.9:g.50157636C>G, XM_005259122.6:c.3347C>A, XM_005259122.6:c.3347C>G, XM_005259122.5:c.3347C>A, XM_005259122.5:c.3347C>G, XM_005259122.4:c.3347C>A, XM_005259122.4:c.3347C>G, XM_005259122.3:c.3347C>A, XM_005259122.3:c.3347C>G, XM_005259122.2:c.3347C>A, XM_005259122.2:c.3347C>G, XM_005259122.1:c.3347C>A, XM_005259122.1:c.3347C>G, XM_011527194.4:c.3356C>A, XM_011527194.4:c.3356C>G, XM_011527194.3:c.3356C>A, XM_011527194.3:c.3356C>G, XM_011527194.2:c.3356C>A, XM_011527194.2:c.3356C>G, XM_011527194.1:c.3356C>A, XM_011527194.1:c.3356C>G, NM_021228.3:c.3347C>A, NM_021228.3:c.3347C>G, NM_021228.2:c.3347C>A, NM_021228.2:c.3347C>G, XM_017027083.3:c.3077C>A, XM_017027083.3:c.3077C>G, XM_017027083.2:c.3077C>A, XM_017027083.2:c.3077C>G, XM_017027083.1:c.3077C>A, XM_017027083.1:c.3077C>G, XP_005259179.1:p.Ala1116Asp, XP_005259179.1:p.Ala1116Gly, XP_011525496.1:p.Ala1119Asp, XP_011525496.1:p.Ala1119Gly, NP_067051.2:p.Ala1116Asp, NP_067051.2:p.Ala1116Gly, XP_016882572.1:p.Ala1026Asp, XP_016882572.1:p.Ala1026Gly

Select item 148754236220.

rs1487542362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49640529 (GRCh38)
19:50143786 (GRCh37)
Canonical SPDI:: NC_000019.10:49640528:G:A
Gene:: RRAS (Varview), SCAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.49640529G>A, NC_000019.9:g.50143786G>A, NG_042222.1:g.4615C>T

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