SNP Links for Gene (Select 388389) - SNP

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Select item 14908108511.

rs1490810851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:44902033 (GRCh38)
17:42979401 (GRCh37)
Canonical SPDI:: NC_000017.11:44902032:C:G
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.44902033C>G, NC_000017.10:g.42979401C>G, NG_032674.1:g.2593G>C, NG_032792.1:g.7322C>G

Select item 14906198492.

rs1490619849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44903650 (GRCh38)
17:42981018 (GRCh37)
Canonical SPDI:: NC_000017.11:44903649:T:C
Gene:: GFAP (Varview), CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_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_000017.11:g.44903650T>C, NC_000017.10:g.42981018T>C, NG_032674.1:g.976A>G, NG_008401.1:g.16897A>G, NM_002055.5:c.*3697A>G, NG_032792.1:g.8939T>C, NM_001258397.3:c.*1312T>C, NM_001258397.2:c.*1312T>C, NM_001258397.1:c.*1312T>C, NM_213607.3:c.*833T>C, NM_213607.2:c.*833T>C, NM_001258398.3:c.*1251T>C, NM_001258398.2:c.*1251T>C, NM_001258398.1:c.*1251T>C, NM_001258399.2:c.*1251T>C, NM_001258399.1:c.*1251T>C, NM_001258396.2:c.*833T>C, NM_001258396.1:c.*833T>C, NM_001258395.2:c.*833T>C, NM_001258395.1:c.*833T>C, NM_001258400.2:c.-180T>C

Select item 14899838853.

rs1489983885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44904055 (GRCh38)
17:42981423 (GRCh37)
Canonical SPDI:: NC_000017.11:44904054:A:G
Gene:: GFAP (Varview), CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.44904055A>G, NC_000017.10:g.42981423A>G, NG_032674.1:g.571T>C, NG_008401.1:g.16492T>C, NM_002055.5:c.*3292T>C, NG_032792.1:g.9344A>G, NM_001258397.3:c.*1717A>G, NM_213607.3:c.*1238A>G, NM_001258398.3:c.*1656A>G, NM_001258399.2:c.*1656A>G, NM_001258396.2:c.*1238A>G, NM_001258395.2:c.*1238A>G, NM_001258400.2:c.226A>G, NM_001258400.1:c.226A>G, NP_001245329.1:p.Thr76Ala

Select item 14898012484.

rs1489801248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:44904111 (GRCh38)
17:42981479 (GRCh37)
Canonical SPDI:: NC_000017.11:44904110:T:A,NC_000017.11:44904110:T:C
Gene:: GFAP (Varview), CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.44904111T>A, NC_000017.11:g.44904111T>C, NC_000017.10:g.42981479T>A, NC_000017.10:g.42981479T>C, NG_032674.1:g.515A>T, NG_032674.1:g.515A>G, NG_008401.1:g.16436A>T, NG_008401.1:g.16436A>G, NM_002055.5:c.*3236A>T, NM_002055.5:c.*3236A>G, NG_032792.1:g.9400T>A, NG_032792.1:g.9400T>C, NM_001258397.3:c.*1773T>A, NM_001258397.3:c.*1773T>C, NM_213607.3:c.*1294T>A, NM_213607.3:c.*1294T>C, NM_001258398.3:c.*1712T>A, NM_001258398.3:c.*1712T>C, NM_001258399.2:c.*1712T>A, NM_001258399.2:c.*1712T>C, NM_001258396.2:c.*1294T>A, NM_001258396.2:c.*1294T>C, NM_001258395.2:c.*1294T>A, NM_001258395.2:c.*1294T>C, NM_001258400.2:c.282T>A, NM_001258400.2:c.282T>C, NM_001258400.1:c.282T>A, NM_001258400.1:c.282T>C

Select item 14885726535.

rs1488572653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44902317 (GRCh38)
17:42979685 (GRCh37)
Canonical SPDI:: NC_000017.11:44902316:G:A
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: splice_acceptor_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44902317G>A, NC_000017.10:g.42979685G>A, NG_032674.1:g.2309C>T, NG_032792.1:g.7606G>A

Select item 14874497206.

rs1487449720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:44903067 (GRCh38)
17:42980436 (GRCh37)
Canonical SPDI:: NC_000017.11:44903067:TT:TTT
Gene:: GFAP (Varview), CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.44903069dup, NC_000017.10:g.42980437dup, NG_032674.1:g.1558dup, NG_032792.1:g.8358dup, NM_001258397.3:c.*731dup, NM_001258397.2:c.*731dup, NM_001258397.1:c.*731dup, NM_213607.3:c.*252dup, NM_213607.2:c.*252dup, NM_001258398.3:c.*670dup, NM_001258398.2:c.*670dup, NM_001258398.1:c.*670dup, NM_001258399.2:c.*670dup, NM_001258399.1:c.*670dup, NM_001258396.2:c.*252dup, NM_001258396.1:c.*252dup, NM_001258395.2:c.*252dup, NM_001258395.1:c.*252dup

Select item 14869601487.

rs1486960148 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:44899591 (GRCh38)
17:42976959 (GRCh37)
Canonical SPDI:: NC_000017.11:44899590:C:
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44899591del, NC_000017.10:g.42976959del, NG_032674.1:g.5035del, NG_032792.1:g.4880del, NM_004247.3:c.-227del, NM_001258354.1:c.-227del, NM_001142605.1:c.-223del

Select item 14868551988.

rs1486855198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:44899091 (GRCh38)
17:42976460 (GRCh37)
Canonical SPDI:: NC_000017.11:44899091:A:AA
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.44899092dup, NC_000017.10:g.42976460dup, NG_032674.1:g.5534dup, NM_001258353.2:c.-122dup, NM_001258353.1:c.-122dup, NG_032792.1:g.4381dup

Select item 14866685049.

rs1486668504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44903379 (GRCh38)
17:42980747 (GRCh37)
Canonical SPDI:: NC_000017.11:44903378:G:A
Gene:: GFAP (Varview), CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.44903379G>A, NC_000017.10:g.42980747G>A, NG_032674.1:g.1247C>T, NG_032792.1:g.8668G>A, NM_001258397.3:c.*1041G>A, NM_001258397.2:c.*1041G>A, NM_001258397.1:c.*1041G>A, NM_213607.3:c.*562G>A, NM_213607.2:c.*562G>A, NM_001258398.3:c.*980G>A, NM_001258398.2:c.*980G>A, NM_001258398.1:c.*980G>A, NM_001258399.2:c.*980G>A, NM_001258399.1:c.*980G>A, NM_001258396.2:c.*562G>A, NM_001258396.1:c.*562G>A, NM_001258395.2:c.*562G>A, NM_001258395.1:c.*562G>A, NM_002055.5:c.*3968C>T

Select item 148663018110.

rs1486630181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44901539 (GRCh38)
17:42978907 (GRCh37)
Canonical SPDI:: NC_000017.11:44901538:C:T
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.44901539C>T, NC_000017.10:g.42978907C>T, NG_032674.1:g.3087G>A, NG_032792.1:g.6828C>T, NM_001258397.3:c.163C>T, NM_001258397.2:c.163C>T, NM_001258397.1:c.163C>T, NM_213607.3:c.163C>T, NM_213607.2:c.163C>T, NM_001258398.3:c.163C>T, NM_001258398.2:c.163C>T, NM_001258398.1:c.163C>T, NM_001258399.2:c.163C>T, NM_001258399.1:c.163C>T, NM_001258396.2:c.163C>T, NM_001258396.1:c.163C>T, NM_001258395.2:c.163C>T, NM_001258395.1:c.163C>T, NP_001245326.1:p.His55Tyr, NP_998772.1:p.His55Tyr, NP_001245327.1:p.His55Tyr, NP_001245328.1:p.His55Tyr, NP_001245325.1:p.His55Tyr, NP_001245324.1:p.His55Tyr

Select item 148598378911.

rs1485983789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44903278 (GRCh38)
17:42980646 (GRCh37)
Canonical SPDI:: NC_000017.11:44903277:A:G
Gene:: GFAP (Varview), CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.44903278A>G, NC_000017.10:g.42980646A>G, NG_032674.1:g.1348T>C, NG_032792.1:g.8567A>G, NM_001258397.3:c.*940A>G, NM_001258397.2:c.*940A>G, NM_001258397.1:c.*940A>G, NM_213607.3:c.*461A>G, NM_213607.2:c.*461A>G, NM_001258398.3:c.*879A>G, NM_001258398.2:c.*879A>G, NM_001258398.1:c.*879A>G, NM_001258399.2:c.*879A>G, NM_001258399.1:c.*879A>G, NM_001258396.2:c.*461A>G, NM_001258396.1:c.*461A>G, NM_001258395.2:c.*461A>G, NM_001258395.1:c.*461A>G, NM_002055.5:c.*4069T>C

Select item 148532244712.

rs1485322447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44899960 (GRCh38)
17:42977328 (GRCh37)
Canonical SPDI:: NC_000017.11:44899959:G:A
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.44899960G>A, NC_000017.10:g.42977328G>A, NG_032674.1:g.4666C>T, NG_032792.1:g.5249G>A

Select item 148486660613.

rs1484866606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44902444 (GRCh38)
17:42979812 (GRCh37)
Canonical SPDI:: NC_000017.11:44902443:G:A
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (Korea1K)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000389/7 (TOMMO)
A=0.000685/2 (KOREAN)
HGVS:: NC_000017.11:g.44902444G>A, NC_000017.10:g.42979812G>A, NG_032674.1:g.2182C>T, NG_032792.1:g.7733G>A, NM_001258397.3:c.*106G>A, NM_001258397.2:c.*106G>A, NM_001258397.1:c.*106G>A, NM_213607.3:c.356G>A, NM_213607.2:c.356G>A, NM_001258398.3:c.*45G>A, NM_001258398.2:c.*45G>A, NM_001258398.1:c.*45G>A, NM_001258399.2:c.*45G>A, NM_001258399.1:c.*45G>A, NM_001258396.2:c.356G>A, NM_001258396.1:c.356G>A, NM_001258395.2:c.356G>A, NM_001258395.1:c.356G>A, NP_998772.1:p.Arg119His, NP_001245325.1:p.Arg119His, NP_001245324.1:p.Arg119His

Select item 148442791114.

rs1484427911 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:44897734 (GRCh38)
17:42975102 (GRCh37)
Canonical SPDI:: NC_000017.11:44897733:T:A
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44897734T>A, NC_000017.10:g.42975102T>A, NG_032674.1:g.6892A>T, NG_032792.1:g.3023T>A

Select item 148441025715.

rs1484410257 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAAT>- [Show Flanks]
Chromosome:: 17:44900494 (GRCh38)
17:42977862 (GRCh37)
Canonical SPDI:: NC_000017.11:44900491:ATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAAT:AT
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44900494_44900541del, NC_000017.10:g.42977862_42977909del, NG_032674.1:g.4087_4134del, NG_032792.1:g.5783_5830del

Select item 148418144116.

rs1484181441 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44900526 (GRCh38)
17:42977894 (GRCh37)
Canonical SPDI:: NC_000017.11:44900525:A:G
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44900526A>G, NC_000017.10:g.42977894A>G, NG_032674.1:g.4100T>C, NG_032792.1:g.5815A>G

Select item 148407911017.

rs1484079110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:44898400 (GRCh38)
17:42975768 (GRCh37)
Canonical SPDI:: NC_000017.11:44898399:A:T
Gene:: EFTUD2 (Varview), CCDC103 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44898400A>T, NC_000017.10:g.42975768A>T, NG_032674.1:g.6226T>A, NG_032792.1:g.3689A>T

Select item 148360037418.

rs1483600374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:44902488 (GRCh38)
17:42979856 (GRCh37)
Canonical SPDI:: NC_000017.11:44902487:C:G
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44902488C>G, NC_000017.10:g.42979856C>G, NG_032674.1:g.2138G>C, NG_032792.1:g.7777C>G, NM_001258397.3:c.*150C>G, NM_001258397.2:c.*150C>G, NM_001258397.1:c.*150C>G, NM_213607.3:c.400C>G, NM_213607.2:c.400C>G, NM_001258398.3:c.*89C>G, NM_001258398.2:c.*89C>G, NM_001258398.1:c.*89C>G, NM_001258399.2:c.*89C>G, NM_001258399.1:c.*89C>G, NM_001258396.2:c.400C>G, NM_001258396.1:c.400C>G, NM_001258395.2:c.400C>G, NM_001258395.1:c.400C>G, NP_998772.1:p.Leu134Val, NP_001245325.1:p.Leu134Val, NP_001245324.1:p.Leu134Val

Select item 148330729419.

rs1483307294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44902724 (GRCh38)
17:42980092 (GRCh37)
Canonical SPDI:: NC_000017.11:44902723:C:T
Gene:: GFAP (Varview), CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,synonymous_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44902724C>T, NC_000017.10:g.42980092C>T, NG_032674.1:g.1902G>A, NG_032792.1:g.8013C>T, NM_001258397.3:c.*386C>T, NM_001258397.2:c.*386C>T, NM_001258397.1:c.*386C>T, NM_213607.3:c.636C>T, NM_213607.2:c.636C>T, NM_001258398.3:c.*325C>T, NM_001258398.2:c.*325C>T, NM_001258398.1:c.*325C>T, NM_001258399.2:c.*325C>T, NM_001258399.1:c.*325C>T, NM_001258396.2:c.636C>T, NM_001258396.1:c.636C>T, NM_001258395.2:c.636C>T, NM_001258395.1:c.636C>T

Select item 148320016920.

rs1483200169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:44901907 (GRCh38)
17:42979275 (GRCh37)
Canonical SPDI:: NC_000017.11:44901906:C:G
Gene:: CCDC103 (Varview), FAM187A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.44901907C>G, NC_000017.10:g.42979275C>G, NG_032674.1:g.2719G>C, NG_032792.1:g.7196C>G

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