SNP Links for Nucleotide (Select 520975459) - SNP

Links from Nucleotide

Items: 1 to 20 of 343

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Select item 14870003421.

rs1487000342 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49663186 (GRCh38)
13:50237322 (GRCh37)
Canonical SPDI:: NC_000013.11:49663185:T:C
Gene:: EBPL (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49663186T>C, NC_000013.10:g.50237322T>C, NM_032565.5:c.251A>G, NM_032565.4:c.251A>G, NR_103802.1:n.435A>G, NM_001278636.1:c.251A>G, NR_103803.1:n.244A>G, NP_115954.1:p.Tyr84Cys, NP_001265565.1:p.Tyr84Cys

Select item 14816908102.

rs1481690810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49661880 (GRCh38)
13:50236016 (GRCh37)
Canonical SPDI:: NC_000013.11:49661879:G:A
Gene:: EBPL (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.49661880G>A, NC_000013.10:g.50236016G>A, NM_001278636.1:c.*23C>T

Select item 14795713323.

rs1479571332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:49691398 (GRCh38)
13:50265534 (GRCh37)
Canonical SPDI:: NC_000013.11:49691397:G:A,NC_000013.11:49691397:G:C,NC_000013.11:49691397:G:T
Gene:: EBPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
T=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49691398G>A, NC_000013.11:g.49691398G>C, NC_000013.11:g.49691398G>T, NC_000013.10:g.50265534G>A, NC_000013.10:g.50265534G>C, NC_000013.10:g.50265534G>T, NM_032565.5:c.27C>T, NM_032565.5:c.27C>G, NM_032565.5:c.27C>A, NM_032565.4:c.27C>T, NM_032565.4:c.27C>G, NM_032565.4:c.27C>A, NR_103802.1:n.90C>T, NR_103802.1:n.90C>G, NR_103802.1:n.90C>A, NM_001278636.1:c.27C>T, NM_001278636.1:c.27C>G, NM_001278636.1:c.27C>A, NR_103803.1:n.90C>T, NR_103803.1:n.90C>G, NR_103803.1:n.90C>A

Select item 14775139864.

rs1477513986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49661025 (GRCh38)
13:50235161 (GRCh37)
Canonical SPDI:: NC_000013.11:49661024:C:T
Gene:: EBPL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49661025C>T, NC_000013.10:g.50235161C>T, NM_032565.5:c.564G>A, NM_032565.4:c.564G>A, NR_103802.1:n.748G>A, NM_001278636.1:c.*221G>A, NR_103803.1:n.557G>A, NP_115954.1:p.Trp188Ter

Select item 14761084615.

rs1476108461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:49660960 (GRCh38)
13:50235096 (GRCh37)
Canonical SPDI:: NC_000013.11:49660959:T:G
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.49660960T>G, NC_000013.10:g.50235096T>G, NM_032565.5:c.*8A>C, NM_032565.4:c.*8A>C, NR_103802.1:n.813A>C, NM_001278636.1:c.*286A>C, NR_103803.1:n.622A>C

Select item 14755741946.

rs1475574194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:49660941 (GRCh38)
13:50235077 (GRCh37)
Canonical SPDI:: NC_000013.11:49660940:G:A
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.49660941G>A, NC_000013.10:g.50235077G>A, NM_032565.5:c.*27C>T, NM_032565.4:c.*27C>T, NR_103802.1:n.832C>T, NM_001278636.1:c.*305C>T, NR_103803.1:n.641C>T

Select item 14740570837.

rs1474057083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49669834 (GRCh38)
13:50243970 (GRCh37)
Canonical SPDI:: NC_000013.11:49669833:C:T
Gene:: EBPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000013.11:g.49669834C>T, NC_000013.10:g.50243970C>T, NM_032565.5:c.184G>A, NM_032565.4:c.184G>A, NR_103802.1:n.368G>A, NM_001278636.1:c.184G>A, NP_115954.1:p.Val62Ile, NP_001265565.1:p.Val62Ile

Select item 14700721258.

rs1470072125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49660919 (GRCh38)
13:50235055 (GRCh37)
Canonical SPDI:: NC_000013.11:49660918:T:C
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49660919T>C, NC_000013.10:g.50235055T>C, NM_032565.5:c.*49A>G, NM_032565.4:c.*49A>G, NR_103802.1:n.854A>G, NM_001278636.1:c.*327A>G, NR_103803.1:n.663A>G

Select item 14690380169.

rs1469038016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAGGC [Show Flanks]
Chromosome:: 13:49691328 (GRCh38)
13:50265465 (GRCh37)
Canonical SPDI:: NC_000013.11:49691328:CAGGCGCAGGC:CAGGCGCAGGCGCAGGC
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: CAGGCG=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.49691334_49691339dup, NC_000013.10:g.50265470_50265475dup, NM_032565.5:c.91_96dup, NM_032565.4:c.91_96dup, NR_103802.1:n.154_159dup, NM_001278636.1:c.91_96dup, NR_103803.1:n.154_159dup, NP_115954.1:p.Arg31_Leu32dup, NP_001265565.1:p.Arg31_Leu32dup

Select item 146727423910.

rs1467274239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:49691363 (GRCh38)
13:50265499 (GRCh37)
Canonical SPDI:: NC_000013.11:49691362:A:C,NC_000013.11:49691362:A:G
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49691363A>C, NC_000013.11:g.49691363A>G, NC_000013.10:g.50265499A>C, NC_000013.10:g.50265499A>G, NM_032565.5:c.62T>G, NM_032565.5:c.62T>C, NM_032565.4:c.62T>G, NM_032565.4:c.62T>C, NR_103802.1:n.125T>G, NR_103802.1:n.125T>C, NM_001278636.1:c.62T>G, NM_001278636.1:c.62T>C, NR_103803.1:n.125T>G, NR_103803.1:n.125T>C, NP_115954.1:p.Leu21Arg, NP_115954.1:p.Leu21Pro, NP_001265565.1:p.Leu21Arg, NP_001265565.1:p.Leu21Pro

Select item 146642995511.

rs1466429955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49669830 (GRCh38)
13:50243966 (GRCh37)
Canonical SPDI:: NC_000013.11:49669829:T:C
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_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_000013.11:g.49669830T>C, NC_000013.10:g.50243966T>C, NM_032565.5:c.188A>G, NM_032565.4:c.188A>G, NR_103802.1:n.372A>G, NM_001278636.1:c.188A>G, NP_115954.1:p.Tyr63Cys, NP_001265565.1:p.Tyr63Cys

Select item 146597491112.

rs1465974911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:49691403 (GRCh38)
13:50265539 (GRCh37)
Canonical SPDI:: NC_000013.11:49691402:C:A
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49691403C>A, NC_000013.10:g.50265539C>A, NM_032565.5:c.22G>T, NM_032565.4:c.22G>T, NR_103802.1:n.85G>T, NM_001278636.1:c.22G>T, NR_103803.1:n.85G>T, NP_115954.1:p.Gly8Trp, NP_001265565.1:p.Gly8Trp

Select item 146546881613.

rs1465468816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:49691288 (GRCh38)
13:50265424 (GRCh37)
Canonical SPDI:: NC_000013.11:49691287:C:T
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000013.11:g.49691288C>T, NC_000013.10:g.50265424C>T, NM_032565.5:c.137G>A, NM_032565.4:c.137G>A, NR_103802.1:n.200G>A, NM_001278636.1:c.137G>A, NR_103803.1:n.200G>A, NP_115954.1:p.Trp46Ter, NP_001265565.1:p.Trp46Ter

Select item 145575214014.

rs1455752140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:49660727 (GRCh38)
13:50234863 (GRCh37)
Canonical SPDI:: NC_000013.11:49660726:G:A,NC_000013.11:49660726:G:T
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49660727G>A, NC_000013.11:g.49660727G>T, NC_000013.10:g.50234863G>A, NC_000013.10:g.50234863G>T, NM_032565.5:c.*241C>T, NM_032565.5:c.*241C>A, NM_032565.4:c.*241C>T, NM_032565.4:c.*241C>A, NR_103802.1:n.1046C>T, NR_103802.1:n.1046C>A, NM_001278636.1:c.*519C>T, NM_001278636.1:c.*519C>A, NR_103803.1:n.855C>T, NR_103803.1:n.855C>A

Select item 145352513215.

rs1453525132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 13:49691445 (GRCh38)
13:50265581 (GRCh37)
Canonical SPDI:: NC_000013.11:49691444:A:C,NC_000013.11:49691444:A:G
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000013.11:g.49691445A>C, NC_000013.11:g.49691445A>G, NC_000013.10:g.50265581A>C, NC_000013.10:g.50265581A>G, NM_032565.5:c.-21T>G, NM_032565.5:c.-21T>C, NM_032565.4:c.-21T>G, NM_032565.4:c.-21T>C, NR_103802.1:n.43T>G, NR_103802.1:n.43T>C, NM_001278636.1:c.-21T>G, NM_001278636.1:c.-21T>C, NR_103803.1:n.43T>G, NR_103803.1:n.43T>C

Select item 145290996016.

rs1452909960 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGC [Show Flanks]
Chromosome:: 13:49691456 (GRCh38)
13:50265593 (GRCh37)
Canonical SPDI:: NC_000013.11:49691456:CATGC:CATGCATGC
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CATGCATGC=0./0 (ALFA)
HGVS:: NC_000013.11:g.49691458_49691461dup, NC_000013.10:g.50265594_50265597dup, NM_032565.5:c.-36_-33dup, NM_032565.4:c.-36_-33dup, NR_103802.1:n.28_31dup, NM_001278636.1:c.-36_-33dup, NR_103803.1:n.28_31dup

Select item 144843655017.

rs1448436550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:49660849 (GRCh38)
13:50234985 (GRCh37)
Canonical SPDI:: NC_000013.11:49660848:C:G,NC_000013.11:49660848:C:T
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000013.11:g.49660849C>G, NC_000013.11:g.49660849C>T, NC_000013.10:g.50234985C>G, NC_000013.10:g.50234985C>T, NM_032565.5:c.*119G>C, NM_032565.5:c.*119G>A, NM_032565.4:c.*119G>C, NM_032565.4:c.*119G>A, NR_103802.1:n.924G>C, NR_103802.1:n.924G>A, NM_001278636.1:c.*397G>C, NM_001278636.1:c.*397G>A, NR_103803.1:n.733G>C, NR_103803.1:n.733G>A

Select item 144084712418.

rs1440847124 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:49691313 (GRCh38)
13:50265449 (GRCh37)
Canonical SPDI:: NC_000013.11:49691312:CCCCC:CCCC
Gene:: EBPL (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000013.11:g.49691317del, NC_000013.10:g.50265453del, NM_032565.5:c.112del, NM_032565.4:c.112del, NR_103802.1:n.175del, NM_001278636.1:c.112del, NR_103803.1:n.175del, NP_115954.1:p.Ala38fs, NP_001265565.1:p.Ala38fs

Select item 143747896319.

rs1437478963 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:49663098 (GRCh38)
13:50237234 (GRCh37)
Canonical SPDI:: NC_000013.11:49663097:T:C
Gene:: EBPL (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.49663098T>C, NC_000013.10:g.50237234T>C, NM_032565.5:c.339A>G, NM_032565.4:c.339A>G, NR_103802.1:n.523A>G, NM_001278636.1:c.339A>G, NR_103803.1:n.332A>G

Select item 143093035020.

rs1430930350 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATT>- [Show Flanks]
Chromosome:: 13:49660742 (GRCh38)
13:50234878 (GRCh37)
Canonical SPDI:: NC_000013.11:49660738:ATTTTATT:ATT
Gene:: EBPL (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.49660742_49660746del, NC_000013.10:g.50234878_50234882del, NM_032565.5:c.*225_*229del, NM_032565.4:c.*225_*229del, NR_103802.1:n.1030_1034del, NM_001278636.1:c.*503_*507del, NR_103803.1:n.839_843del

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