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Select item 14910279871.

rs1491027987 has merged into rs1351395592 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 1:155129549 (GRCh38)
1:155102025 (GRCh37)
Canonical SPDI:: NC_000001.11:155129547:CGC:C,NC_000001.11:155129547:CGC:CGCGC
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
CG=0.00018/3 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.155129549_155129550del, NC_000001.11:g.155129549_155129550dup, NC_000001.10:g.155102025_155102026del, NC_000001.10:g.155102025_155102026dup

Select item 14907660162.

rs1490766016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:155131011 (GRCh38)
1:155103487 (GRCh37)
Canonical SPDI:: NC_000001.11:155131010:A:G
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.155131011A>G, NC_000001.10:g.155103487A>G

Select item 14906577603.

rs1490657760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155130074 (GRCh38)
1:155102550 (GRCh37)
Canonical SPDI:: NC_000001.11:155130073:T:C
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155130074T>C, NC_000001.10:g.155102550T>C

Select item 14906529784.

rs1490652978 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:155130932 (GRCh38)
1:155103409 (GRCh37)
Canonical SPDI:: NC_000001.11:155130932:A:AA
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.155130933dup, NC_000001.10:g.155103409dup

Select item 14901637985.

rs1490163798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155131387 (GRCh38)
1:155103863 (GRCh37)
Canonical SPDI:: NC_000001.11:155131386:G:C
Gene:: EFNA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.155131387G>C, NC_000001.10:g.155103863G>C, NM_004428.3:c.141G>C, NM_004428.2:c.141G>C, NM_182685.2:c.141G>C, NM_182685.1:c.141G>C

Select item 14890357026.

rs1489035702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155132024 (GRCh38)
1:155104500 (GRCh37)
Canonical SPDI:: NC_000001.11:155132023:G:A
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.155132024G>A, NC_000001.10:g.155104500G>A

Select item 14889687277.

rs1488968727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155128405 (GRCh38)
1:155100881 (GRCh37)
Canonical SPDI:: NC_000001.11:155128404:C:T
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_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.155128405C>T, NC_000001.10:g.155100881C>T

Select item 14889171548.

rs1488917154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155129353 (GRCh38)
1:155101829 (GRCh37)
Canonical SPDI:: NC_000001.11:155129352:C:T
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.155129353C>T, NC_000001.10:g.155101829C>T

Select item 14883350269.

rs1488335026 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: 1:155132233 (GRCh38)
1:155104709 (GRCh37)
Canonical SPDI:: NC_000001.11:155132229:TTTATTT:TTT
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.155132233_155132236del, NC_000001.10:g.155104709_155104712del

Select item 148825456010.

rs1488254560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:155129372 (GRCh38)
1:155101848 (GRCh37)
Canonical SPDI:: NC_000001.11:155129371:G:C
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155129372G>C, NC_000001.10:g.155101848G>C

Select item 148811651911.

rs1488116519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:155131374 (GRCh38)
1:155103850 (GRCh37)
Canonical SPDI:: NC_000001.11:155131373:T:C
Gene:: EFNA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.155131374T>C, NC_000001.10:g.155103850T>C, NM_004428.3:c.128T>C, NM_004428.2:c.128T>C, NM_182685.2:c.128T>C, NM_182685.1:c.128T>C, NP_004419.2:p.Leu43Pro, NP_872626.1:p.Leu43Pro

Select item 148807039812.

rs1488070398 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:155128451 (GRCh38)
1:155100927 (GRCh37)
Canonical SPDI:: NC_000001.11:155128450:A:G
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.155128451A>G, NC_000001.10:g.155100927A>G

Select item 148800273513.

rs1488002735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:155134115 (GRCh38)
1:155106591 (GRCh37)
Canonical SPDI:: NC_000001.11:155134114:G:A
Gene:: EFNA1 (Varview), SLC50A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.155134115G>A, NC_000001.10:g.155106591G>A, NM_004428.3:c.*48G>A, NM_004428.2:c.*48G>A, NM_182685.2:c.*48G>A, NM_182685.1:c.*48G>A

Select item 148785189314.

rs1487851893 [Homo sapiens]

Variant type:: DEL
Alleles:: CACGCACACCCT>- [Show Flanks]
Chromosome:: 1:155129546 (GRCh38)
1:155102022 (GRCh37)
Canonical SPDI:: NC_000001.11:155129545:CACGCACACCCT:
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000113/12 (GnomAD)
HGVS:: NC_000001.11:g.155129546_155129557del, NC_000001.10:g.155102022_155102033del

Select item 148764412215.

rs1487644122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155132407 (GRCh38)
1:155104883 (GRCh37)
Canonical SPDI:: NC_000001.11:155132406:C:T
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.155132407C>T, NC_000001.10:g.155104883C>T

Select item 148657451316.

rs1486574513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:155133237 (GRCh38)
1:155105713 (GRCh37)
Canonical SPDI:: NC_000001.11:155133236:G:A,NC_000001.11:155133236:G:T
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.155133237G>A, NC_000001.11:g.155133237G>T, NC_000001.10:g.155105713G>A, NC_000001.10:g.155105713G>T

Select item 148650663917.

rs1486506639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155134321 (GRCh38)
1:155106797 (GRCh37)
Canonical SPDI:: NC_000001.11:155134320:C:T
Gene:: EFNA1 (Varview), SLC50A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.155134321C>T, NC_000001.10:g.155106797C>T, NM_004428.3:c.*254C>T, NM_004428.2:c.*254C>T, NM_182685.2:c.*254C>T, NM_182685.1:c.*254C>T

Select item 148648963818.

rs1486489638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155131898 (GRCh38)
1:155104374 (GRCh37)
Canonical SPDI:: NC_000001.11:155131897:C:T
Gene:: EFNA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.155131898C>T, NC_000001.10:g.155104374C>T

Select item 148630232519.

rs1486302325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:155126316 (GRCh38)
1:155098792 (GRCh37)
Canonical SPDI:: NC_000001.11:155126315:G:T
Gene:: EFNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.155126316G>T, NC_000001.10:g.155098792G>T

Select item 148582327020.

rs1485823270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:155126248 (GRCh38)
1:155098724 (GRCh37)
Canonical SPDI:: NC_000001.11:155126247:C:T
Gene:: EFNA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.155126248C>T, NC_000001.10:g.155098724C>T

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