SNP Links for Nucleotide (Select 1034557901) - SNP

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Links from Nucleotide

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Select item 14896353701.

rs1489635370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37752636 (GRCh38)
1:38218308 (GRCh37)
Canonical SPDI:: NC_000001.11:37752635:G:A
Gene:: EPHA10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.37752636G>A, NC_000001.10:g.38218308G>A, XR_946613.3:n.46C>T, XR_946613.2:n.46C>T, XM_017001081.2:c.27C>T, XM_017001081.1:c.27C>T, XR_001737123.2:n.46C>T, XR_001737123.1:n.46C>T, XR_001737124.2:n.46C>T, XR_001737124.1:n.46C>T, XM_047418391.1:c.27C>T, XM_017001080.1:c.27C>T, XR_001737126.1:n.46C>T, XR_001737127.1:n.46C>T

Select item 14865049242.

rs1486504924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37719917 (GRCh38)
1:38185589 (GRCh37)
Canonical SPDI:: NC_000001.11:37719916:C:T
Gene:: EPHA10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.37719917C>T, NC_000001.10:g.38185589C>T, XR_946613.3:n.1382G>A, XR_946613.2:n.1382G>A, XR_946613.1:n.1297G>A, XR_001737125.3:n.1234G>A, XR_001737125.2:n.1237G>A, XR_001737125.1:n.1236G>A, NM_001099439.2:c.2554G>A, NM_001099439.1:c.2554G>A, XM_017001081.2:c.1363G>A, XM_017001081.1:c.1363G>A, XR_946610.2:n.1558G>A, XR_946610.1:n.1291G>A, XR_001737123.2:n.1382G>A, XR_001737123.1:n.1382G>A, XR_001737124.2:n.1382G>A, XR_001737124.1:n.1382G>A, NM_001004338.2:c.1039G>A, XM_047418403.1:c.1039G>A, XM_047418391.1:c.1363G>A, NM_001004338.1:c.1039G>A, XM_017001080.1:c.1363G>A, XR_001737126.1:n.1382G>A, XR_001737127.1:n.1382G>A, NP_001092909.1:p.Gly852Ser, XP_016856570.1:p.Gly455Ser, XP_047274359.1:p.Gly347Ser, XP_047274347.1:p.Gly455Ser, XP_016856569.1:p.Gly455Ser

Select item 14830399103.

rs1483039910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37720809 (GRCh38)
1:38186481 (GRCh37)
Canonical SPDI:: NC_000001.11:37720808:G:A
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37720809G>A, NC_000001.10:g.38186481G>A, XR_946613.3:n.1010C>T, XR_946613.2:n.1010C>T, XR_946613.1:n.925C>T, XR_001737125.3:n.862C>T, XR_001737125.2:n.865C>T, XR_001737125.1:n.864C>T, NM_001099439.2:c.2182C>T, NM_001099439.1:c.2182C>T, XM_017001081.2:c.991C>T, XM_017001081.1:c.991C>T, XR_946610.2:n.1186C>T, XR_946610.1:n.919C>T, XR_001737123.2:n.1010C>T, XR_001737123.1:n.1010C>T, XR_001737124.2:n.1010C>T, XR_001737124.1:n.1010C>T, NM_001004338.2:c.667C>T, XM_047418403.1:c.667C>T, XM_047418391.1:c.991C>T, NM_001004338.1:c.667C>T, XM_017001080.1:c.991C>T, XR_001737126.1:n.1010C>T, XR_001737127.1:n.1010C>T, NP_001092909.1:p.His728Tyr, XP_016856570.1:p.His331Tyr, XP_047274359.1:p.His223Tyr, XP_047274347.1:p.His331Tyr, XP_016856569.1:p.His331Tyr

Select item 14824828054.

rs1482482805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:37719551 (GRCh38)
1:38185223 (GRCh37)
Canonical SPDI:: NC_000001.11:37719550:G:T
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37719551G>T, NC_000001.10:g.38185223G>T, XR_946613.3:n.1447C>A, XR_946613.2:n.1447C>A, XR_946613.1:n.1362C>A, XR_001737125.3:n.1299C>A, XR_001737125.2:n.1302C>A, XR_001737125.1:n.1301C>A, NM_001099439.2:c.2619C>A, NM_001099439.1:c.2619C>A, XM_017001081.2:c.1428C>A, XM_017001081.1:c.1428C>A, XR_946610.2:n.1623C>A, XR_946610.1:n.1356C>A, XR_001737123.2:n.1447C>A, XR_001737123.1:n.1447C>A, XR_001737124.2:n.1447C>A, XR_001737124.1:n.1447C>A, NM_001004338.2:c.1104C>A, XM_047418403.1:c.1104C>A, XM_047418391.1:c.1428C>A, NM_001004338.1:c.1104C>A, XM_017001080.1:c.1428C>A, XR_001737126.1:n.1447C>A, XR_001737127.1:n.1447C>A, NP_001092909.1:p.Asn873Lys, XP_016856570.1:p.Asn476Lys, XP_047274359.1:p.Asn368Lys, XP_047274347.1:p.Asn476Lys, XP_016856569.1:p.Asn476Lys

Select item 14820086435.

rs1482008643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:37720408 (GRCh38)
1:38186080 (GRCh37)
Canonical SPDI:: NC_000001.11:37720407:C:A
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.37720408C>A, NC_000001.10:g.38186080C>A, XR_946613.3:n.1183G>T, XR_946613.2:n.1183G>T, XR_946613.1:n.1098G>T, XR_001737125.3:n.1035G>T, XR_001737125.2:n.1038G>T, XR_001737125.1:n.1037G>T, NM_001099439.2:c.2355G>T, NM_001099439.1:c.2355G>T, XM_017001081.2:c.1164G>T, XM_017001081.1:c.1164G>T, XR_946610.2:n.1359G>T, XR_946610.1:n.1092G>T, XR_001737123.2:n.1183G>T, XR_001737123.1:n.1183G>T, XR_001737124.2:n.1183G>T, XR_001737124.1:n.1183G>T, NM_001004338.2:c.840G>T, XM_047418403.1:c.840G>T, XM_047418391.1:c.1164G>T, NM_001004338.1:c.840G>T, XM_017001080.1:c.1164G>T, XR_001737126.1:n.1183G>T, XR_001737127.1:n.1183G>T, NP_001092909.1:p.Lys785Asn, XP_016856570.1:p.Lys388Asn, XP_047274359.1:p.Lys280Asn, XP_047274347.1:p.Lys388Asn, XP_016856569.1:p.Lys388Asn

Select item 14819915616.

rs1481991561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37727163 (GRCh38)
1:38192835 (GRCh37)
Canonical SPDI:: NC_000001.11:37727162:C:T
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37727163C>T, NC_000001.10:g.38192835C>T, XR_946613.3:n.539G>A, XR_946613.2:n.539G>A, XR_946613.1:n.454G>A, XR_001737125.3:n.391G>A, XR_001737125.2:n.394G>A, XR_001737125.1:n.393G>A, NM_001099439.2:c.1711G>A, NM_001099439.1:c.1711G>A, XM_017001081.2:c.520G>A, XM_017001081.1:c.520G>A, XR_946610.2:n.715G>A, XR_946610.1:n.448G>A, XR_001737123.2:n.539G>A, XR_001737123.1:n.539G>A, XR_001737124.2:n.539G>A, XR_001737124.1:n.539G>A, NM_001004338.2:c.196G>A, XM_047418403.1:c.196G>A, XM_047418391.1:c.520G>A, NM_001004338.1:c.196G>A, XM_017001080.1:c.520G>A, XR_001737126.1:n.539G>A, XR_001737127.1:n.539G>A, NP_001092909.1:p.Val571Met, XP_016856570.1:p.Val174Met, XP_047274359.1:p.Val66Met, XP_047274347.1:p.Val174Met, XP_016856569.1:p.Val174Met

Select item 14741947177.

rs1474194717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37752621 (GRCh38)
1:38218293 (GRCh37)
Canonical SPDI:: NC_000001.11:37752620:G:A
Gene:: EPHA10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_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_000001.11:g.37752621G>A, NC_000001.10:g.38218293G>A, XR_946613.3:n.61C>T, XR_946613.2:n.61C>T, XM_017001081.2:c.42C>T, XM_017001081.1:c.42C>T, XR_001737123.2:n.61C>T, XR_001737123.1:n.61C>T, XR_001737124.2:n.61C>T, XR_001737124.1:n.61C>T, XM_047418391.1:c.42C>T, XM_017001080.1:c.42C>T, XR_001737126.1:n.61C>T, XR_001737127.1:n.61C>T

Select item 14716591978.

rs1471659197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37720369 (GRCh38)
1:38186041 (GRCh37)
Canonical SPDI:: NC_000001.11:37720368:C:T
Gene:: EPHA10 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37720369C>T, NC_000001.10:g.38186041C>T, XR_946613.3:n.1222G>A, XR_946613.2:n.1222G>A, XR_946613.1:n.1137G>A, XR_001737125.3:n.1074G>A, XR_001737125.2:n.1077G>A, XR_001737125.1:n.1076G>A, NM_001099439.2:c.2394G>A, NM_001099439.1:c.2394G>A, XM_017001081.2:c.1203G>A, XM_017001081.1:c.1203G>A, XR_946610.2:n.1398G>A, XR_946610.1:n.1131G>A, XR_001737123.2:n.1222G>A, XR_001737123.1:n.1222G>A, XR_001737124.2:n.1222G>A, XR_001737124.1:n.1222G>A, NM_001004338.2:c.879G>A, XM_047418403.1:c.879G>A, XM_047418391.1:c.1203G>A, NM_001004338.1:c.879G>A, XM_017001080.1:c.1203G>A, XR_001737126.1:n.1222G>A, XR_001737127.1:n.1222G>A

Select item 14712611659.

rs1471261165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37731539 (GRCh38)
1:38197211 (GRCh37)
Canonical SPDI:: NC_000001.11:37731538:G:A
Gene:: EPHA10 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.37731539G>A, NC_000001.10:g.38197211G>A, XR_946613.3:n.363C>T, XR_946613.2:n.363C>T, XR_946613.1:n.278C>T, XR_001737125.3:n.215C>T, XR_001737125.2:n.218C>T, XR_001737125.1:n.217C>T, NM_001099439.2:c.1535C>T, NM_001099439.1:c.1535C>T, XM_017001081.2:c.344C>T, XM_017001081.1:c.344C>T, XR_946610.2:n.539C>T, XR_946610.1:n.272C>T, XR_001737123.2:n.363C>T, XR_001737123.1:n.363C>T, XR_001737124.2:n.363C>T, XR_001737124.1:n.363C>T, NM_001004338.2:c.20C>T, XM_047418403.1:c.20C>T, XM_047418391.1:c.344C>T, NM_001004338.1:c.20C>T, XM_017001080.1:c.344C>T, XR_001737126.1:n.363C>T, XR_001737127.1:n.363C>T, NP_001092909.1:p.Pro512Leu, XP_016856570.1:p.Pro115Leu, XP_047274359.1:p.Pro7Leu, XP_047274347.1:p.Pro115Leu, XP_016856569.1:p.Pro115Leu

Select item 146827073110.

rs1468270731 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 1:37735259 (GRCh38)
1:38200931 (GRCh37)
Canonical SPDI:: NC_000001.11:37735256:CTTCT:CT
Gene:: EPHA10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000071/1 (ALFA)
-=0.000006/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000566/9 (TOMMO)
HGVS:: NC_000001.11:g.37735259_37735261del, NC_000001.10:g.38200931_38200933del, XR_946613.3:n.317_319del, XR_946613.2:n.317_319del, XR_946613.1:n.232_234del, NM_001099439.2:c.1489_1491del, NM_001099439.1:c.1489_1491del, XM_017001081.2:c.298_300del, XM_017001081.1:c.298_300del, XR_946610.2:n.493_495del, XR_946610.1:n.226_228del, XR_001737123.2:n.317_319del, XR_001737123.1:n.317_319del, XR_001737124.2:n.317_319del, XR_001737124.1:n.317_319del, NM_001004338.2:c.-27_-25del, XM_047418403.1:c.-27_-25del, XM_047418391.1:c.298_300del, NM_001004338.1:c.-27_-25del, XM_017001080.1:c.298_300del, XR_001737126.1:n.317_319del, XR_001737127.1:n.317_319del, NP_001092909.1:p.Lys497del, XP_016856570.1:p.Lys100del, XP_047274347.1:p.Lys100del, XP_016856569.1:p.Lys100del

Select item 146794702111.

rs1467947021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37718724 (GRCh38)
1:38184396 (GRCh37)
Canonical SPDI:: NC_000001.11:37718723:T:C
Gene:: EPHA10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_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.37718724T>C, NC_000001.10:g.38184396T>C, XR_946613.3:n.1677A>G, XR_946613.2:n.1677A>G, XR_946613.1:n.1592A>G, XR_001737125.3:n.1529A>G, XR_001737125.2:n.1532A>G, XR_001737125.1:n.1531A>G, NM_001099439.2:c.2849A>G, NM_001099439.1:c.2849A>G, XM_017001081.2:c.1665A>G, XM_017001081.1:c.1665A>G, XR_946610.2:n.1853A>G, XR_946610.1:n.1586A>G, XR_001737123.2:n.1677A>G, XR_001737123.1:n.1677A>G, XR_001737124.2:n.1677A>G, XR_001737124.1:n.1677A>G, NM_001004338.2:c.1334A>G, XM_047418403.1:c.1341A>G, XM_047418391.1:c.1658A>G, NM_001004338.1:c.1334A>G, XM_017001080.1:c.1658A>G, XR_001737126.1:n.1811A>G, XR_001737127.1:n.1778A>G, NP_001092909.1:p.Tyr950Cys, XP_047274347.1:p.Tyr553Cys, XP_016856569.1:p.Tyr553Cys

Select item 146571359312.

rs1465713593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:37735261 (GRCh38)
1:38200933 (GRCh37)
Canonical SPDI:: NC_000001.11:37735260:T:C
Gene:: EPHA10 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37735261T>C, NC_000001.10:g.38200933T>C, XR_946613.3:n.315A>G, XR_946613.2:n.315A>G, XR_946613.1:n.230A>G, NM_001099439.2:c.1487A>G, NM_001099439.1:c.1487A>G, XM_017001081.2:c.296A>G, XM_017001081.1:c.296A>G, XR_946610.2:n.491A>G, XR_946610.1:n.224A>G, XR_001737123.2:n.315A>G, XR_001737123.1:n.315A>G, XR_001737124.2:n.315A>G, XR_001737124.1:n.315A>G, NM_001004338.2:c.-29A>G, XM_047418403.1:c.-29A>G, XM_047418391.1:c.296A>G, NM_001004338.1:c.-29A>G, XM_017001080.1:c.296A>G, XR_001737126.1:n.315A>G, XR_001737127.1:n.315A>G, NP_001092909.1:p.Glu496Gly, XP_016856570.1:p.Glu99Gly, XP_047274347.1:p.Glu99Gly, XP_016856569.1:p.Glu99Gly

Select item 146444561413.

rs1464445614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:37721798 (GRCh38)
1:38187470 (GRCh37)
Canonical SPDI:: NC_000001.11:37721797:G:A
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_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_000001.11:g.37721798G>A, NC_000001.10:g.38187470G>A, XR_946613.3:n.836C>T, XR_946613.2:n.836C>T, XR_946613.1:n.751C>T, XR_001737125.3:n.688C>T, XR_001737125.2:n.691C>T, XR_001737125.1:n.690C>T, NM_001099439.2:c.2008C>T, NM_001099439.1:c.2008C>T, XM_017001081.2:c.817C>T, XM_017001081.1:c.817C>T, XR_946610.2:n.1012C>T, XR_946610.1:n.745C>T, XR_001737123.2:n.836C>T, XR_001737123.1:n.836C>T, XR_001737124.2:n.836C>T, XR_001737124.1:n.836C>T, NM_001004338.2:c.493C>T, XM_047418403.1:c.493C>T, XM_047418391.1:c.817C>T, NM_001004338.1:c.493C>T, XM_017001080.1:c.817C>T, XR_001737126.1:n.836C>T, XR_001737127.1:n.836C>T, NP_001092909.1:p.Gln670Ter, XP_016856570.1:p.Gln273Ter, XP_047274359.1:p.Gln165Ter, XP_047274347.1:p.Gln273Ter, XP_016856569.1:p.Gln273Ter

Select item 146429158814.

rs1464291588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:37721682 (GRCh38)
1:38187354 (GRCh37)
Canonical SPDI:: NC_000001.11:37721681:C:G,NC_000001.11:37721681:C:T
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37721682C>G, NC_000001.11:g.37721682C>T, NC_000001.10:g.38187354C>G, NC_000001.10:g.38187354C>T, XR_946613.3:n.952G>C, XR_946613.3:n.952G>A, XR_946613.2:n.952G>C, XR_946613.2:n.952G>A, XR_946613.1:n.867G>C, XR_946613.1:n.867G>A, XR_001737125.3:n.804G>C, XR_001737125.3:n.804G>A, XR_001737125.2:n.807G>C, XR_001737125.2:n.807G>A, XR_001737125.1:n.806G>C, XR_001737125.1:n.806G>A, NM_001099439.2:c.2124G>C, NM_001099439.2:c.2124G>A, NM_001099439.1:c.2124G>C, NM_001099439.1:c.2124G>A, XM_017001081.2:c.933G>C, XM_017001081.2:c.933G>A, XM_017001081.1:c.933G>C, XM_017001081.1:c.933G>A, XR_946610.2:n.1128G>C, XR_946610.2:n.1128G>A, XR_946610.1:n.861G>C, XR_946610.1:n.861G>A, XR_001737123.2:n.952G>C, XR_001737123.2:n.952G>A, XR_001737123.1:n.952G>C, XR_001737123.1:n.952G>A, XR_001737124.2:n.952G>C, XR_001737124.2:n.952G>A, XR_001737124.1:n.952G>C, XR_001737124.1:n.952G>A, NM_001004338.2:c.609G>C, NM_001004338.2:c.609G>A, XM_047418403.1:c.609G>C, XM_047418403.1:c.609G>A, XM_047418391.1:c.933G>C, XM_047418391.1:c.933G>A, NM_001004338.1:c.609G>C, NM_001004338.1:c.609G>A, XM_017001080.1:c.933G>C, XM_017001080.1:c.933G>A, XR_001737126.1:n.952G>C, XR_001737126.1:n.952G>A, XR_001737127.1:n.952G>C, XR_001737127.1:n.952G>A

Select item 146354625815.

rs1463546258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:37723345 (GRCh38)
1:38189017 (GRCh37)
Canonical SPDI:: NC_000001.11:37723344:C:G
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37723345C>G, NC_000001.10:g.38189017C>G, XR_946613.3:n.628G>C, XR_946613.2:n.628G>C, XR_946613.1:n.543G>C, XR_001737125.3:n.480G>C, XR_001737125.2:n.483G>C, XR_001737125.1:n.482G>C, NM_001099439.2:c.1800G>C, NM_001099439.1:c.1800G>C, XM_017001081.2:c.609G>C, XM_017001081.1:c.609G>C, XR_946610.2:n.804G>C, XR_946610.1:n.537G>C, XR_001737123.2:n.628G>C, XR_001737123.1:n.628G>C, XR_001737124.2:n.628G>C, XR_001737124.1:n.628G>C, NM_001004338.2:c.285G>C, XM_047418403.1:c.285G>C, XM_047418391.1:c.609G>C, NM_001004338.1:c.285G>C, XM_017001080.1:c.609G>C, XR_001737126.1:n.628G>C, XR_001737127.1:n.628G>C

Select item 146298760316.

rs1462987603 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCA [Show Flanks]
Chromosome:: 1:37719950 (GRCh38)
1:38185623 (GRCh37)
Canonical SPDI:: NC_000001.11:37719950:CATCA:CATCATCA
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,inframe_insertion,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CATCATCA=0./0 (ALFA)
HGVS:: NC_000001.11:g.37719953_37719955dup, NC_000001.10:g.38185625_38185627dup, XR_946613.3:n.1346_1348dup, XR_946613.2:n.1346_1348dup, XR_946613.1:n.1261_1263dup, XR_001737125.3:n.1198_1200dup, XR_001737125.2:n.1201_1203dup, XR_001737125.1:n.1200_1202dup, NM_001099439.2:c.2518_2520dup, NM_001099439.1:c.2518_2520dup, XM_017001081.2:c.1327_1329dup, XM_017001081.1:c.1327_1329dup, XR_946610.2:n.1522_1524dup, XR_946610.1:n.1255_1257dup, XR_001737123.2:n.1346_1348dup, XR_001737123.1:n.1346_1348dup, XR_001737124.2:n.1346_1348dup, XR_001737124.1:n.1346_1348dup, NM_001004338.2:c.1003_1005dup, XM_047418403.1:c.1003_1005dup, XM_047418391.1:c.1327_1329dup, NM_001004338.1:c.1003_1005dup, XM_017001080.1:c.1327_1329dup, XR_001737126.1:n.1346_1348dup, XR_001737127.1:n.1346_1348dup, NP_001092909.1:p.Met840dup, XP_016856570.1:p.Met443dup, XP_047274359.1:p.Met335dup, XP_047274347.1:p.Met443dup, XP_016856569.1:p.Met443dup

Select item 146075830417.

rs1460758304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37723364 (GRCh38)
1:38189036 (GRCh37)
Canonical SPDI:: NC_000001.11:37723363:C:T
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37723364C>T, NC_000001.10:g.38189036C>T, XR_946613.3:n.609G>A, XR_946613.2:n.609G>A, XR_946613.1:n.524G>A, XR_001737125.3:n.461G>A, XR_001737125.2:n.464G>A, XR_001737125.1:n.463G>A, NM_001099439.2:c.1781G>A, NM_001099439.1:c.1781G>A, XM_017001081.2:c.590G>A, XM_017001081.1:c.590G>A, XR_946610.2:n.785G>A, XR_946610.1:n.518G>A, XR_001737123.2:n.609G>A, XR_001737123.1:n.609G>A, XR_001737124.2:n.609G>A, XR_001737124.1:n.609G>A, NM_001004338.2:c.266G>A, XM_047418403.1:c.266G>A, XM_047418391.1:c.590G>A, NM_001004338.1:c.266G>A, XM_017001080.1:c.590G>A, XR_001737126.1:n.609G>A, XR_001737127.1:n.609G>A, NP_001092909.1:p.Ser594Asn, XP_016856570.1:p.Ser197Asn, XP_047274359.1:p.Ser89Asn, XP_047274347.1:p.Ser197Asn, XP_016856569.1:p.Ser197Asn

Select item 146062599618.

rs1460625996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:37731483 (GRCh38)
1:38197155 (GRCh37)
Canonical SPDI:: NC_000001.11:37731482:C:A
Gene:: EPHA10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37731483C>A, NC_000001.10:g.38197155C>A, XR_946613.3:n.419G>T, XR_946613.2:n.419G>T, XR_946613.1:n.334G>T, XR_001737125.3:n.271G>T, XR_001737125.2:n.274G>T, XR_001737125.1:n.273G>T, NM_001099439.2:c.1591G>T, NM_001099439.1:c.1591G>T, XM_017001081.2:c.400G>T, XM_017001081.1:c.400G>T, XR_946610.2:n.595G>T, XR_946610.1:n.328G>T, XR_001737123.2:n.419G>T, XR_001737123.1:n.419G>T, XR_001737124.2:n.419G>T, XR_001737124.1:n.419G>T, NM_001004338.2:c.76G>T, XM_047418403.1:c.76G>T, XM_047418391.1:c.400G>T, NM_001004338.1:c.76G>T, XM_017001080.1:c.400G>T, XR_001737126.1:n.419G>T, XR_001737127.1:n.419G>T, NP_001092909.1:p.Ala531Ser, XP_016856570.1:p.Ala134Ser, XP_047274359.1:p.Ala26Ser, XP_047274347.1:p.Ala134Ser, XP_016856569.1:p.Ala134Ser

Select item 145924116019.

rs1459241160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:37752614 (GRCh38)
1:38218286 (GRCh37)
Canonical SPDI:: NC_000001.11:37752613:C:T
Gene:: EPHA10 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.37752614C>T, NC_000001.10:g.38218286C>T, XR_946613.3:n.68G>A, XR_946613.2:n.68G>A, XM_017001081.2:c.49G>A, XM_017001081.1:c.49G>A, XR_001737123.2:n.68G>A, XR_001737123.1:n.68G>A, XR_001737124.2:n.68G>A, XR_001737124.1:n.68G>A, XM_047418391.1:c.49G>A, XM_017001080.1:c.49G>A, XR_001737126.1:n.68G>A, XR_001737127.1:n.68G>A, XP_016856570.1:p.Val17Ile, XP_047274347.1:p.Val17Ile, XP_016856569.1:p.Val17Ile

Select item 145687610320.

rs1456876103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:37719433 (GRCh38)
1:38185105 (GRCh37)
Canonical SPDI:: NC_000001.11:37719432:C:A,NC_000001.11:37719432:C:T
Gene:: EPHA10 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.37719433C>A, NC_000001.11:g.37719433C>T, NC_000001.10:g.38185105C>A, NC_000001.10:g.38185105C>T, XR_946613.3:n.1565G>T, XR_946613.3:n.1565G>A, XR_946613.2:n.1565G>T, XR_946613.2:n.1565G>A, XR_946613.1:n.1480G>T, XR_946613.1:n.1480G>A, XR_001737125.3:n.1417G>T, XR_001737125.3:n.1417G>A, XR_001737125.2:n.1420G>T, XR_001737125.2:n.1420G>A, XR_001737125.1:n.1419G>T, XR_001737125.1:n.1419G>A, NM_001099439.2:c.2737G>T, NM_001099439.2:c.2737G>A, NM_001099439.1:c.2737G>T, NM_001099439.1:c.2737G>A, XR_946610.2:n.1741G>T, XR_946610.2:n.1741G>A, XR_946610.1:n.1474G>T, XR_946610.1:n.1474G>A, XR_001737123.2:n.1565G>T, XR_001737123.2:n.1565G>A, XR_001737123.1:n.1565G>T, XR_001737123.1:n.1565G>A, XR_001737124.2:n.1565G>T, XR_001737124.2:n.1565G>A, XR_001737124.1:n.1565G>T, XR_001737124.1:n.1565G>A, NM_001004338.2:c.1222G>T, NM_001004338.2:c.1222G>A, XM_047418391.1:c.1546G>T, XM_047418391.1:c.1546G>A, NM_001004338.1:c.1222G>T, NM_001004338.1:c.1222G>A, XM_017001080.1:c.1546G>T, XM_017001080.1:c.1546G>A, XR_001737126.1:n.1565G>T, XR_001737126.1:n.1565G>A, XR_001737127.1:n.1565G>T, XR_001737127.1:n.1565G>A, NP_001092909.1:p.Ala913Ser, NP_001092909.1:p.Ala913Thr, XP_047274347.1:p.Ala516Ser, XP_047274347.1:p.Ala516Thr, XP_016856569.1:p.Ala516Ser, XP_016856569.1:p.Ala516Thr

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