SNP Links for Gene (Select 2041) - SNP

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Select item 14915326831.

rs1491532683 has merged into rs71523910 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:143405447 (GRCh38)
7:143102540 (GRCh37)
Canonical SPDI:: NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:143405436:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGT=0./0 (ALFA)
-=0.3502/1754 (1000Genomes)
HGVS:: NC_000007.14:g.143405437GT[5], NC_000007.14:g.143405437GT[6], NC_000007.14:g.143405437GT[7], NC_000007.14:g.143405437GT[8], NC_000007.14:g.143405437GT[9], NC_000007.14:g.143405437GT[10], NC_000007.14:g.143405437GT[11], NC_000007.14:g.143405437GT[12], NC_000007.14:g.143405437GT[14], NC_000007.14:g.143405437GT[15], NC_000007.14:g.143405437GT[16], NC_000007.14:g.143405437GT[17], NC_000007.14:g.143405437GT[18], NC_000007.14:g.143405437GT[19], NC_000007.14:g.143405437GT[20], NC_000007.14:g.143405437GT[21], NC_000007.14:g.143405437GT[22], NC_000007.14:g.143405437GT[23], NC_000007.13:g.143102530GT[5], NC_000007.13:g.143102530GT[6], NC_000007.13:g.143102530GT[7], NC_000007.13:g.143102530GT[8], NC_000007.13:g.143102530GT[9], NC_000007.13:g.143102530GT[10], NC_000007.13:g.143102530GT[11], NC_000007.13:g.143102530GT[12], NC_000007.13:g.143102530GT[14], NC_000007.13:g.143102530GT[15], NC_000007.13:g.143102530GT[16], NC_000007.13:g.143102530GT[17], NC_000007.13:g.143102530GT[18], NC_000007.13:g.143102530GT[19], NC_000007.13:g.143102530GT[20], NC_000007.13:g.143102530GT[21], NC_000007.13:g.143102530GT[22], NC_000007.13:g.143102530GT[23], NW_018654714.1:g.24801GT[5], NW_018654714.1:g.24801GT[6], NW_018654714.1:g.24801GT[7], NW_018654714.1:g.24801GT[8], NW_018654714.1:g.24801GT[9], NW_018654714.1:g.24801GT[10], NW_018654714.1:g.24801GT[11], NW_018654714.1:g.24801GT[12], NW_018654714.1:g.24801GT[14], NW_018654714.1:g.24801GT[15], NW_018654714.1:g.24801GT[16], NW_018654714.1:g.24801GT[17], NW_018654714.1:g.24801GT[18], NW_018654714.1:g.24801GT[19], NW_018654714.1:g.24801GT[20], NW_018654714.1:g.24801GT[21], NW_018654714.1:g.24801GT[22], NW_018654714.1:g.24801GT[23]

Select item 14914583922.

rs1491458392 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:143395272 (GRCh38)
7:143092365 (GRCh37)
Canonical SPDI:: NC_000007.14:143395269:CTCT:CT
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000214/3 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000049/13 (TOPMED)
-=0.000049/6 (ExAC)
-=0.000072/18 (GnomAD_exomes)
-=0.00008/1 (GoESP)
HGVS:: NC_000007.14:g.143395270CT[1], NC_000007.13:g.143092363CT[1], NW_018654714.1:g.14634CT[1]

Select item 14914280943.

rs1491428094 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATGTG [Show Flanks]
Chromosome:: 7:143405437 (GRCh38)
7:143102531 (GRCh37)
Canonical SPDI:: NC_000007.14:143405437:TGTG:TGTGCATGTG
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGCATGTG=0.00007/1 (ALFA)
TGTGCA=0.00007/1 (GnomAD)
HGVS:: NC_000007.14:g.143405438_143405441TG[2]CATGTG[1], NC_000007.13:g.143102531_143102534TG[2]CATGTG[1], NW_018654714.1:g.24802_24805TG[2]CATGTG[1]

Select item 14912521644.

rs1491252164 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGTGTG>-,CGTGTGCGTGTG [Show Flanks]
Chromosome:: 7:143405436 (GRCh38)
7:143102529 (GRCh37)
Canonical SPDI:: NC_000007.14:143405430:GTGTGCGTGTG:GTGTG,NC_000007.14:143405430:GTGTGCGTGTG:GTGTGCGTGTGCGTGTG
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCGTGTGCGTGTG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
GTGTGC=0.00015/13 (GnomAD)
HGVS:: NC_000007.14:g.143405436_143405441del, NC_000007.14:g.143405436_143405441dup, NC_000007.13:g.143102529_143102534del, NC_000007.13:g.143102529_143102534dup, NW_018654714.1:g.24800_24805del, NW_018654714.1:g.24800_24805dup

Select item 14909431345.

rs1490943134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143398330 (GRCh38)
7:143095423 (GRCh37)
Canonical SPDI:: NC_000007.14:143398329:C:G
Gene:: EPHA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.143398330C>G, NC_000007.13:g.143095423C>G, NW_018654714.1:g.17694C>G, NM_005232.5:c.1455G>C, NM_005232.4:c.1455G>C

Select item 14909085966.

rs1490908596 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGCTACCAGTACATAGTT>- [Show Flanks]
Chromosome:: 7:143397092 (GRCh38)
7:143094185 (GRCh37)
Canonical SPDI:: NC_000007.14:143397090:TGGGGGGCTACCAGTACATAGTT:T
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.143397092_143397113del, NC_000007.13:g.143094185_143094206del, NW_018654714.1:g.16456_16477del

Select item 14905015757.

rs1490501575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:143396869 (GRCh38)
7:143093962 (GRCh37)
Canonical SPDI:: NC_000007.14:143396868:C:G,NC_000007.14:143396868:C:T
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.143396869C>G, NC_000007.14:g.143396869C>T, NC_000007.13:g.143093962C>G, NC_000007.13:g.143093962C>T, NW_018654714.1:g.16233C>G, NW_018654714.1:g.16233C>T

Select item 14903328588.

rs1490332858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143394339 (GRCh38)
7:143091432 (GRCh37)
Canonical SPDI:: NC_000007.14:143394338:C:G
Gene:: EPHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143394339C>G, NC_000007.13:g.143091432C>G, NW_018654714.1:g.13703C>G, NM_005232.5:c.2357G>C, NM_005232.4:c.2357G>C, NP_005223.4:p.Gly786Ala

Select item 14901865079.

rs1490186507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:143404705 (GRCh38)
7:143101798 (GRCh37)
Canonical SPDI:: NC_000007.14:143404704:A:C,NC_000007.14:143404704:A:G
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000007.14:g.143404705A>C, NC_000007.14:g.143404705A>G, NC_000007.13:g.143101798A>C, NC_000007.13:g.143101798A>G, NW_018654714.1:g.24069A>C, NW_018654714.1:g.24069A>G

Select item 149011432310.

rs1490114323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143405564 (GRCh38)
7:143102657 (GRCh37)
Canonical SPDI:: NC_000007.14:143405563:T:C
Gene:: EPHA1 (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_000007.14:g.143405564T>C, NC_000007.13:g.143102657T>C, NW_018654714.1:g.24928T>C

Select item 148972684911.

rs1489726849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:143394126 (GRCh38)
7:143091219 (GRCh37)
Canonical SPDI:: NC_000007.14:143394125:G:C
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143394126G>C, NC_000007.13:g.143091219G>C, NW_018654714.1:g.13490G>C

Select item 148971720312.

rs1489717203 [Homo sapiens]

Variant type:: DEL
Alleles:: CCA>- [Show Flanks]
Chromosome:: 7:143408480 (GRCh38)
7:143105573 (GRCh37)
Canonical SPDI:: NC_000007.14:143408479:CCA:
Gene:: EPHA1 (Varview), EPHA1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000007.14:g.143408480_143408482del, NC_000007.13:g.143105573_143105575del, NW_018654714.1:g.27844_27846del

Select item 148964320113.

rs1489643201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143390880 (GRCh38)
7:143087973 (GRCh37)
Canonical SPDI:: NC_000007.14:143390879:T:C
Gene:: EPHA1 (Varview), ZYX (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.143390880T>C, NC_000007.13:g.143087973T>C, NW_018654714.1:g.10244T>C, NM_003461.5:c.*198T>C, NM_003461.4:c.*198T>C, NM_001010972.2:c.*198T>C, NM_001010972.1:c.*198T>C, NM_001362783.2:c.*198T>C, NM_001362783.1:c.*198T>C, XM_047420817.1:c.*198T>C

Select item 148953908014.

rs1489539080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143401810 (GRCh38)
7:143098903 (GRCh37)
Canonical SPDI:: NC_000007.14:143401809:A:G
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.143401810A>G, NC_000007.13:g.143098903A>G, NW_018654714.1:g.21174A>G

Select item 148919580315.

rs1489195803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:143402536 (GRCh38)
7:143099629 (GRCh37)
Canonical SPDI:: NC_000007.14:143402535:G:C
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.143402536G>C, NC_000007.13:g.143099629G>C, NW_018654714.1:g.21900G>C

Select item 148882781716.

rs1488827817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143394259 (GRCh38)
7:143091352 (GRCh37)
Canonical SPDI:: NC_000007.14:143394258:C:T
Gene:: EPHA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143394259C>T, NC_000007.13:g.143091352C>T, NW_018654714.1:g.13623C>T, NM_005232.5:c.2437G>A, NM_005232.4:c.2437G>A, NP_005223.4:p.Gly813Arg

Select item 148860867317.

rs1488608673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143400639 (GRCh38)
7:143097732 (GRCh37)
Canonical SPDI:: NC_000007.14:143400638:T:C
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.143400639T>C, NC_000007.13:g.143097732T>C, NW_018654714.1:g.20003T>C

Select item 148821672418.

rs1488216724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143402286 (GRCh38)
7:143099379 (GRCh37)
Canonical SPDI:: NC_000007.14:143402285:A:G
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_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_000007.14:g.143402286A>G, NC_000007.13:g.143099379A>G, NW_018654714.1:g.21650A>G

Select item 148821367919.

rs1488213679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143403134 (GRCh38)
7:143100227 (GRCh37)
Canonical SPDI:: NC_000007.14:143403133:A:G
Gene:: EPHA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.143403134A>G, NC_000007.13:g.143100227A>G, NW_018654714.1:g.22498A>G

Select item 148817320020.

rs1488173200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143391608 (GRCh38)
7:143088701 (GRCh37)
Canonical SPDI:: NC_000007.14:143391607:C:T
Gene:: EPHA1 (Varview), ZYX (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.143391608C>T, NC_000007.13:g.143088701C>T, NW_018654714.1:g.10972C>T

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