SNP Links for Protein (Select 530390222) - SNP

Select item 14817528411.

rs1481752841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:34381100 (GRCh38)
9:34381098 (GRCh37)
Canonical SPDI:: NC_000009.12:34381099:T:C
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000009.12:g.34381100T>C, NC_000009.11:g.34381098T>C, XM_005251616.6:c.504A>G, XM_005251618.5:c.99A>G, XM_005251618.4:c.99A>G, XM_005251618.3:c.99A>G, XM_005251618.2:c.99A>G, XM_005251618.1:c.99A>G, NM_032596.4:c.504A>G, NM_032596.3:c.504A>G, XM_011518055.3:c.99A>G, XM_011518055.2:c.99A>G, XM_011518055.1:c.99A>G, NM_147169.3:c.99A>G, NM_147169.2:c.99A>G, NM_147168.2:c.99A>G, NM_147168.1:c.99A>G, NM_001252195.2:c.99A>G, NM_001252195.1:c.99A>G, XR_007061464.1:n.201T>C, NM_001410962.1:c.504A>G

Select item 14745687822.

rs1474568782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34380994 (GRCh38)
9:34380992 (GRCh37)
Canonical SPDI:: NC_000009.12:34380993:G:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000009.12:g.34380994G>A, NC_000009.11:g.34380992G>A, XM_005251616.6:c.610C>T, XM_005251618.5:c.205C>T, XM_005251618.4:c.205C>T, XM_005251618.3:c.205C>T, XM_005251618.2:c.205C>T, XM_005251618.1:c.205C>T, NM_032596.4:c.610C>T, NM_032596.3:c.610C>T, XM_011518055.3:c.205C>T, XM_011518055.2:c.205C>T, XM_011518055.1:c.205C>T, NM_147168.2:c.205C>T, NM_147168.1:c.205C>T, NM_001252195.2:c.205C>T, NM_001252195.1:c.205C>T, XR_007061464.1:n.95G>A, NM_001410962.1:c.610C>T, XP_005251673.1:p.Arg204Cys, XP_005251675.1:p.Arg69Cys, NP_115985.2:p.Arg204Cys, XP_011516357.1:p.Arg69Cys, NP_671697.1:p.Arg69Cys, NP_001239124.1:p.Arg69Cys

Select item 14733901143.

rs1473390114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34381390 (GRCh38)
9:34381388 (GRCh37)
Canonical SPDI:: NC_000009.12:34381389:G:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_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_000009.12:g.34381390G>A, NC_000009.11:g.34381388G>A, XM_005251616.6:c.451C>T, XM_005251618.5:c.46C>T, XM_005251618.4:c.46C>T, XM_005251618.3:c.46C>T, XM_005251618.2:c.46C>T, XM_005251618.1:c.46C>T, NM_032596.4:c.451C>T, NM_032596.3:c.451C>T, XM_011518055.3:c.46C>T, XM_011518055.2:c.46C>T, XM_011518055.1:c.46C>T, NM_147169.3:c.46C>T, NM_147169.2:c.46C>T, NM_147168.2:c.46C>T, NM_147168.1:c.46C>T, NM_001252195.2:c.46C>T, NM_001252195.1:c.46C>T, NM_001410962.1:c.451C>T, XP_005251673.1:p.Pro151Ser, XP_005251675.1:p.Pro16Ser, NP_115985.2:p.Pro151Ser, XP_011516357.1:p.Pro16Ser, NP_671698.1:p.Pro16Ser, NP_671697.1:p.Pro16Ser, NP_001239124.1:p.Pro16Ser

Select item 14719896264.

rs1471989626 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:34380993 (GRCh38)
9:34380992 (GRCh37)
Canonical SPDI:: NC_000009.12:34380993:GG:GGG
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.01587/186 (GoESP)
HGVS:: NC_000009.12:g.34380995dup, NC_000009.11:g.34380993dup, XM_005251616.6:c.610dup, XM_005251618.5:c.205dup, XM_005251618.4:c.205dup, XM_005251618.3:c.205dup, XM_005251618.2:c.205dup, XM_005251618.1:c.205dup, NM_032596.4:c.610dup, NM_032596.3:c.610dup, XM_011518055.3:c.205dup, XM_011518055.2:c.205dup, XM_011518055.1:c.205dup, NM_147168.2:c.205dup, NM_147168.1:c.205dup, NM_001252195.2:c.205dup, NM_001252195.1:c.205dup, XR_007061464.1:n.96dup, NM_001410962.1:c.610dup, XP_005251673.1:p.Arg204fs, XP_005251675.1:p.Arg69fs, NP_115985.2:p.Arg204fs, XP_011516357.1:p.Arg69fs, NP_671697.1:p.Arg69fs, NP_001239124.1:p.Arg69fs

Select item 14714434815.

rs1471443481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34381055 (GRCh38)
9:34381053 (GRCh37)
Canonical SPDI:: NC_000009.12:34381054:C:T
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,splice_donor_variant
HGVS:: NC_000009.12:g.34381055C>T, NC_000009.11:g.34381053C>T, XM_005251616.6:c.549G>A, XM_005251618.5:c.144G>A, XM_005251618.4:c.144G>A, XM_005251618.3:c.144G>A, XM_005251618.2:c.144G>A, XM_005251618.1:c.144G>A, NM_032596.4:c.549G>A, NM_032596.3:c.549G>A, XM_011518055.3:c.144G>A, XM_011518055.2:c.144G>A, XM_011518055.1:c.144G>A, NM_147168.2:c.144G>A, NM_147168.1:c.144G>A, NM_001252195.2:c.144G>A, NM_001252195.1:c.144G>A, XR_007061464.1:n.156C>T, NM_001410962.1:c.549G>A

Select item 14622633276.

rs1462263327 [Homo sapiens]

Variant type:: DEL
Alleles:: CACACTGC>- [Show Flanks]
Chromosome:: 9:34379692 (GRCh38)
9:34379690 (GRCh37)
Canonical SPDI:: NC_000009.12:34379691:CACACTGC:
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.34379692_34379699del, NC_000009.11:g.34379690_34379697del, XM_005251616.6:c.741_748del, XM_005251618.5:c.336_343del, XM_005251618.4:c.336_343del, XM_005251618.3:c.336_343del, XM_005251618.2:c.336_343del, XM_005251618.1:c.336_343del, NM_032596.4:c.736_743del, NM_032596.3:c.736_743del, XM_011518055.3:c.336_343del, XM_011518055.2:c.336_343del, XM_011518055.1:c.336_343del, NM_147169.3:c.177_184del, NM_147169.2:c.177_184del, NM_147168.2:c.331_338del, NM_147168.1:c.331_338del, NM_001252195.2:c.336_343del, NM_001252195.1:c.336_343del, NM_001410962.1:c.741_748del, XP_005251673.1:p.Met247fs, XP_005251675.1:p.Met112fs, NP_115985.2:p.Ala246fs, XP_011516357.1:p.Met112fs, NP_671698.1:p.Met59fs, NP_671697.1:p.Ala111fs, NP_001239124.1:p.Met112fs

Select item 14615142167.

rs1461514216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34381121 (GRCh38)
9:34381119 (GRCh37)
Canonical SPDI:: NC_000009.12:34381120:C:T
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000009.12:g.34381121C>T, NC_000009.11:g.34381119C>T, XM_005251616.6:c.483G>A, XM_005251618.5:c.78G>A, XM_005251618.4:c.78G>A, XM_005251618.3:c.78G>A, XM_005251618.2:c.78G>A, XM_005251618.1:c.78G>A, NM_032596.4:c.483G>A, NM_032596.3:c.483G>A, XM_011518055.3:c.78G>A, XM_011518055.2:c.78G>A, XM_011518055.1:c.78G>A, NM_147169.3:c.78G>A, NM_147169.2:c.78G>A, NM_147168.2:c.78G>A, NM_147168.1:c.78G>A, NM_001252195.2:c.78G>A, NM_001252195.1:c.78G>A, XR_007061464.1:n.222C>T, NM_001410962.1:c.483G>A

Select item 14517543678.

rs1451754367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34380962 (GRCh38)
9:34380960 (GRCh37)
Canonical SPDI:: NC_000009.12:34380961:G:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000009.12:g.34380962G>A, NC_000009.11:g.34380960G>A, XM_005251616.6:c.642C>T, XM_005251618.5:c.237C>T, XM_005251618.4:c.237C>T, XM_005251618.3:c.237C>T, XM_005251618.2:c.237C>T, XM_005251618.1:c.237C>T, NM_032596.4:c.642C>T, NM_032596.3:c.642C>T, XM_011518055.3:c.237C>T, XM_011518055.2:c.237C>T, XM_011518055.1:c.237C>T, NM_147168.2:c.237C>T, NM_147168.1:c.237C>T, NM_001252195.2:c.237C>T, NM_001252195.1:c.237C>T, XR_007061464.1:n.63G>A, NM_001410962.1:c.642C>T

Select item 14494172019.

rs1449417201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:34381419 (GRCh38)
9:34381417 (GRCh37)
Canonical SPDI:: NC_000009.12:34381418:C:A,NC_000009.12:34381418:C:G
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.34381419C>A, NC_000009.12:g.34381419C>G, NC_000009.11:g.34381417C>A, NC_000009.11:g.34381417C>G, XM_005251616.6:c.422G>T, XM_005251616.6:c.422G>C, XM_005251618.5:c.17G>T, XM_005251618.5:c.17G>C, XM_005251618.4:c.17G>T, XM_005251618.4:c.17G>C, XM_005251618.3:c.17G>T, XM_005251618.3:c.17G>C, XM_005251618.2:c.17G>T, XM_005251618.2:c.17G>C, XM_005251618.1:c.17G>T, XM_005251618.1:c.17G>C, NM_032596.4:c.422G>T, NM_032596.4:c.422G>C, NM_032596.3:c.422G>T, NM_032596.3:c.422G>C, XM_011518055.3:c.17G>T, XM_011518055.3:c.17G>C, XM_011518055.2:c.17G>T, XM_011518055.2:c.17G>C, XM_011518055.1:c.17G>T, XM_011518055.1:c.17G>C, NM_147169.3:c.17G>T, NM_147169.3:c.17G>C, NM_147169.2:c.17G>T, NM_147169.2:c.17G>C, NM_147168.2:c.17G>T, NM_147168.2:c.17G>C, NM_147168.1:c.17G>T, NM_147168.1:c.17G>C, NM_001252195.2:c.17G>T, NM_001252195.2:c.17G>C, NM_001252195.1:c.17G>T, NM_001252195.1:c.17G>C, NM_001410962.1:c.422G>T, NM_001410962.1:c.422G>C, XP_005251673.1:p.Arg141Leu, XP_005251673.1:p.Arg141Pro, XP_005251675.1:p.Arg6Leu, XP_005251675.1:p.Arg6Pro, NP_115985.2:p.Arg141Leu, NP_115985.2:p.Arg141Pro, XP_011516357.1:p.Arg6Leu, XP_011516357.1:p.Arg6Pro, NP_671698.1:p.Arg6Leu, NP_671698.1:p.Arg6Pro, NP_671697.1:p.Arg6Leu, NP_671697.1:p.Arg6Pro, NP_001239124.1:p.Arg6Leu, NP_001239124.1:p.Arg6Pro

Select item 144799427910.

rs1447994279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:34380950 (GRCh38)
9:34380948 (GRCh37)
Canonical SPDI:: NC_000009.12:34380949:C:T
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.34380950C>T, NC_000009.11:g.34380948C>T, XM_005251616.6:c.654G>A, XM_005251618.5:c.249G>A, XM_005251618.4:c.249G>A, XM_005251618.3:c.249G>A, XM_005251618.2:c.249G>A, XM_005251618.1:c.249G>A, NM_032596.4:c.654G>A, NM_032596.3:c.654G>A, XM_011518055.3:c.249G>A, XM_011518055.2:c.249G>A, XM_011518055.1:c.249G>A, NM_147168.2:c.249G>A, NM_147168.1:c.249G>A, NM_001252195.2:c.249G>A, NM_001252195.1:c.249G>A, XR_007061464.1:n.51C>T, NM_001410962.1:c.654G>A

Select item 143764337211.

rs1437643372 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:34381401 (GRCh38)
9:34381400 (GRCh37)
Canonical SPDI:: NC_000009.12:34381401:A:AA
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.34381402dup, NC_000009.11:g.34381400dup, XM_005251616.6:c.439dup, XM_005251618.5:c.34dup, XM_005251618.4:c.34dup, XM_005251618.3:c.34dup, XM_005251618.2:c.34dup, XM_005251618.1:c.34dup, NM_032596.4:c.439dup, NM_032596.3:c.439dup, XM_011518055.3:c.34dup, XM_011518055.2:c.34dup, XM_011518055.1:c.34dup, NM_147169.3:c.34dup, NM_147169.2:c.34dup, NM_147168.2:c.34dup, NM_147168.1:c.34dup, NM_001252195.2:c.34dup, NM_001252195.1:c.34dup, NM_001410962.1:c.439dup, XP_005251673.1:p.Cys147fs, XP_005251675.1:p.Cys12fs, NP_115985.2:p.Cys147fs, XP_011516357.1:p.Cys12fs, NP_671698.1:p.Cys12fs, NP_671697.1:p.Cys12fs, NP_001239124.1:p.Cys12fs

Select item 143760282412.

rs1437602824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:34380897 (GRCh38)
9:34380895 (GRCh37)
Canonical SPDI:: NC_000009.12:34380896:C:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.34380897C>A, NC_000009.11:g.34380895C>A, XM_005251616.6:c.707G>T, XM_005251618.5:c.302G>T, XM_005251618.4:c.302G>T, XM_005251618.3:c.302G>T, XM_005251618.2:c.302G>T, XM_005251618.1:c.302G>T, XM_011518055.3:c.302G>T, XM_011518055.2:c.302G>T, XM_011518055.1:c.302G>T, NM_001252195.2:c.302G>T, NM_001252195.1:c.302G>T, NM_001410962.1:c.707G>T, XP_005251673.1:p.Arg236Ile, XP_005251675.1:p.Arg101Ile, XP_011516357.1:p.Arg101Ile, NP_001239124.1:p.Arg101Ile

Select item 143590229813.

rs1435902298 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAAACTCAG>- [Show Flanks]
Chromosome:: 9:34379108 (GRCh38)
9:34379106 (GRCh37)
Canonical SPDI:: NC_000009.12:34379102:CTCAGACACAAACTCAG:CTCAG
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,inframe_deletion,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000009.12:g.34379108_34379119del, NC_000009.11:g.34379106_34379117del, XM_005251616.6:c.862_873del, XM_005251618.5:c.457_468del, XM_005251618.4:c.457_468del, XM_005251618.3:c.457_468del, XM_005251618.2:c.457_468del, XM_005251618.1:c.457_468del, NM_032596.4:c.*68_*79del, NM_032596.3:c.*68_*79del, XM_011518055.3:c.457_468del, XM_011518055.2:c.457_468del, XM_011518055.1:c.457_468del, NM_147169.3:c.298_309del, NM_147169.2:c.298_309del, NM_147168.2:c.*68_*79del, NM_147168.1:c.*68_*79del, NM_001252195.2:c.457_468del, NM_001252195.1:c.457_468del, NM_001410962.1:c.862_873del, XP_005251673.1:p.Phe288_Glu291del, XP_005251675.1:p.Phe153_Glu156del, XP_011516357.1:p.Phe153_Glu156del, NP_671698.1:p.Phe100_Glu103del, NP_001239124.1:p.Phe153_Glu156del

Select item 143282261914.

rs1432822619 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:34379131 (GRCh38)
9:34379129 (GRCh37)
Canonical SPDI:: NC_000009.12:34379129:ATA:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000009.12:g.34379131_34379132del, NC_000009.11:g.34379129_34379130del, XM_005251616.6:c.845_846del, XM_005251618.5:c.440_441del, XM_005251618.4:c.440_441del, XM_005251618.3:c.440_441del, XM_005251618.2:c.440_441del, XM_005251618.1:c.440_441del, NM_032596.4:c.*51_*52del, NM_032596.3:c.*51_*52del, XM_011518055.3:c.440_441del, XM_011518055.2:c.440_441del, XM_011518055.1:c.440_441del, NM_147169.3:c.281_282del, NM_147169.2:c.281_282del, NM_147168.2:c.*51_*52del, NM_147168.1:c.*51_*52del, NM_001252195.2:c.440_441del, NM_001252195.1:c.440_441del, NM_001410962.1:c.845_846del, XP_005251673.1:p.Tyr282fs, XP_005251675.1:p.Tyr147fs, XP_011516357.1:p.Tyr147fs, NP_671698.1:p.Tyr94fs, NP_001239124.1:p.Tyr147fs

Select item 143257880615.

rs1432578806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34380968 (GRCh38)
9:34380966 (GRCh37)
Canonical SPDI:: NC_000009.12:34380967:G:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
HGVS:: NC_000009.12:g.34380968G>A, NC_000009.11:g.34380966G>A, XM_005251616.6:c.636C>T, XM_005251618.5:c.231C>T, XM_005251618.4:c.231C>T, XM_005251618.3:c.231C>T, XM_005251618.2:c.231C>T, XM_005251618.1:c.231C>T, NM_032596.4:c.636C>T, NM_032596.3:c.636C>T, XM_011518055.3:c.231C>T, XM_011518055.2:c.231C>T, XM_011518055.1:c.231C>T, NM_147168.2:c.231C>T, NM_147168.1:c.231C>T, NM_001252195.2:c.231C>T, NM_001252195.1:c.231C>T, XR_007061464.1:n.69G>A, NM_001410962.1:c.636C>T

Select item 143241087116.

rs1432410871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:34379091 (GRCh38)
9:34379089 (GRCh37)
Canonical SPDI:: NC_000009.12:34379090:G:T
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34379091G>T, NC_000009.11:g.34379089G>T, XM_005251616.6:c.885C>A, XM_005251618.5:c.480C>A, XM_005251618.4:c.480C>A, XM_005251618.3:c.480C>A, XM_005251618.2:c.480C>A, XM_005251618.1:c.480C>A, NM_032596.4:c.*91C>A, NM_032596.3:c.*91C>A, XM_011518055.3:c.480C>A, XM_011518055.2:c.480C>A, XM_011518055.1:c.480C>A, NM_147169.3:c.321C>A, NM_147169.2:c.321C>A, NM_147168.2:c.*91C>A, NM_147168.1:c.*91C>A, NM_001252195.2:c.480C>A, NM_001252195.1:c.480C>A, NM_001410962.1:c.885C>A, XP_005251673.1:p.Asp295Glu, XP_005251675.1:p.Asp160Glu, XP_011516357.1:p.Asp160Glu, NP_671698.1:p.Asp107Glu, NP_001239124.1:p.Asp160Glu

Select item 143034106417.

rs1430341064 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34381112 (GRCh38)
9:34381110 (GRCh37)
Canonical SPDI:: NC_000009.12:34381111:G:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000009.12:g.34381112G>A, NC_000009.11:g.34381110G>A, XM_005251616.6:c.492C>T, XM_005251618.5:c.87C>T, XM_005251618.4:c.87C>T, XM_005251618.3:c.87C>T, XM_005251618.2:c.87C>T, XM_005251618.1:c.87C>T, NM_032596.4:c.492C>T, NM_032596.3:c.492C>T, XM_011518055.3:c.87C>T, XM_011518055.2:c.87C>T, XM_011518055.1:c.87C>T, NM_147169.3:c.87C>T, NM_147169.2:c.87C>T, NM_147168.2:c.87C>T, NM_147168.1:c.87C>T, NM_001252195.2:c.87C>T, NM_001252195.1:c.87C>T, XR_007061464.1:n.213G>A, NM_001410962.1:c.492C>T

Select item 142936761318.

rs1429367613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34379677 (GRCh38)
9:34379675 (GRCh37)
Canonical SPDI:: NC_000009.12:34379676:G:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.34379677G>A, NC_000009.11:g.34379675G>A, XM_005251616.6:c.763C>T, XM_005251618.5:c.358C>T, XM_005251618.4:c.358C>T, XM_005251618.3:c.358C>T, XM_005251618.2:c.358C>T, XM_005251618.1:c.358C>T, NM_032596.4:c.758C>T, NM_032596.3:c.758C>T, XM_011518055.3:c.358C>T, XM_011518055.2:c.358C>T, XM_011518055.1:c.358C>T, NM_147169.3:c.199C>T, NM_147169.2:c.199C>T, NM_147168.2:c.353C>T, NM_147168.1:c.353C>T, NM_001252195.2:c.358C>T, NM_001252195.1:c.358C>T, NM_001410962.1:c.763C>T, XP_005251673.1:p.Pro255Ser, XP_005251675.1:p.Pro120Ser, NP_115985.2:p.Pro253Leu, XP_011516357.1:p.Pro120Ser, NP_671698.1:p.Pro67Ser, NP_671697.1:p.Pro118Leu, NP_001239124.1:p.Pro120Ser

Select item 142730449319.

rs1427304493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:34379080 (GRCh38)
9:34379078 (GRCh37)
Canonical SPDI:: NC_000009.12:34379079:C:G
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,missense_variant
HGVS:: NC_000009.12:g.34379080C>G, NC_000009.11:g.34379078C>G, XM_005251616.6:c.896G>C, XM_005251618.5:c.491G>C, XM_005251618.4:c.491G>C, XM_005251618.3:c.491G>C, XM_005251618.2:c.491G>C, XM_005251618.1:c.491G>C, NM_032596.4:c.*102G>C, NM_032596.3:c.*102G>C, XM_011518055.3:c.491G>C, XM_011518055.2:c.491G>C, XM_011518055.1:c.491G>C, NM_147169.3:c.332G>C, NM_147169.2:c.332G>C, NM_147168.2:c.*102G>C, NM_147168.1:c.*102G>C, NM_001252195.2:c.491G>C, NM_001252195.1:c.491G>C, NM_001410962.1:c.896G>C, XP_005251673.1:p.Trp299Ser, XP_005251675.1:p.Trp164Ser, XP_011516357.1:p.Trp164Ser, NP_671698.1:p.Trp111Ser, NP_001239124.1:p.Trp164Ser

Select item 142614778020.

rs1426147780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:34380986 (GRCh38)
9:34380984 (GRCh37)
Canonical SPDI:: NC_000009.12:34380985:G:A
Gene:: C9orf24 (Varview), LOC124902144 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
HGVS:: NC_000009.12:g.34380986G>A, NC_000009.11:g.34380984G>A, XM_005251616.6:c.618C>T, XM_005251618.5:c.213C>T, XM_005251618.4:c.213C>T, XM_005251618.3:c.213C>T, XM_005251618.2:c.213C>T, XM_005251618.1:c.213C>T, NM_032596.4:c.618C>T, NM_032596.3:c.618C>T, XM_011518055.3:c.213C>T, XM_011518055.2:c.213C>T, XM_011518055.1:c.213C>T, NM_147168.2:c.213C>T, NM_147168.1:c.213C>T, NM_001252195.2:c.213C>T, NM_001252195.1:c.213C>T, XR_007061464.1:n.87G>A, NM_001410962.1:c.618C>T

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 206

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 206

Page of 11

Page of 11

Display Settings:

Supplemental Content

Find related data

Recent activity