SNP Links for Nucleotide (Select 212549767) - SNP

Links from Nucleotide

Items: 1 to 20 of 6473

<< First< Prev

Page of 324

Next >Last >>

Select item 14915430841.

rs1491543084 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:99735101 (GRCh38)
10:101494858 (GRCh37)
Canonical SPDI:: NC_000010.11:99735100:CA:
Gene:: CUTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.06154/730 (ALFA)
-=0.00281/59 (GnomAD)
-=0.00617/101 (TOMMO)
HGVS:: NC_000010.11:g.99735101_99735102del, NC_000010.10:g.101494858_101494859del, NG_008986.1:g.2565_2566del

Select item 14914512592.

rs1491451259 has merged into rs56971127 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:99735112 (GRCh38)
10:101494869 (GRCh37)
Canonical SPDI:: NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99735101:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CUTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.99735112_99735126del, NC_000010.11:g.99735113_99735126del, NC_000010.11:g.99735114_99735126del, NC_000010.11:g.99735115_99735126del, NC_000010.11:g.99735116_99735126del, NC_000010.11:g.99735117_99735126del, NC_000010.11:g.99735118_99735126del, NC_000010.11:g.99735121_99735126del, NC_000010.11:g.99735122_99735126del, NC_000010.11:g.99735123_99735126del, NC_000010.11:g.99735124_99735126del, NC_000010.11:g.99735125_99735126del, NC_000010.11:g.99735126del, NC_000010.11:g.99735126dup, NC_000010.11:g.99735125_99735126dup, NC_000010.11:g.99735124_99735126dup, NC_000010.11:g.99735123_99735126dup, NC_000010.11:g.99735122_99735126dup, NC_000010.11:g.99735121_99735126dup, NC_000010.11:g.99735120_99735126dup, NC_000010.11:g.99735119_99735126dup, NC_000010.11:g.99735118_99735126dup, NC_000010.11:g.99735117_99735126dup, NC_000010.11:g.99735116_99735126dup, NC_000010.11:g.99735115_99735126dup, NC_000010.11:g.99735111_99735126dup, NC_000010.11:g.99735110_99735126dup, NC_000010.11:g.99735108_99735126dup, NC_000010.11:g.99735102_99735126dup, NC_000010.11:g.99735126_99735127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.101494869_101494883del, NC_000010.10:g.101494870_101494883del, NC_000010.10:g.101494871_101494883del, NC_000010.10:g.101494872_101494883del, NC_000010.10:g.101494873_101494883del, NC_000010.10:g.101494874_101494883del, NC_000010.10:g.101494875_101494883del, NC_000010.10:g.101494878_101494883del, NC_000010.10:g.101494879_101494883del, NC_000010.10:g.101494880_101494883del, NC_000010.10:g.101494881_101494883del, NC_000010.10:g.101494882_101494883del, NC_000010.10:g.101494883del, NC_000010.10:g.101494883dup, NC_000010.10:g.101494882_101494883dup, NC_000010.10:g.101494881_101494883dup, NC_000010.10:g.101494880_101494883dup, NC_000010.10:g.101494879_101494883dup, NC_000010.10:g.101494878_101494883dup, NC_000010.10:g.101494877_101494883dup, NC_000010.10:g.101494876_101494883dup, NC_000010.10:g.101494875_101494883dup, NC_000010.10:g.101494874_101494883dup, NC_000010.10:g.101494873_101494883dup, NC_000010.10:g.101494872_101494883dup, NC_000010.10:g.101494868_101494883dup, NC_000010.10:g.101494867_101494883dup, NC_000010.10:g.101494865_101494883dup, NC_000010.10:g.101494859_101494883dup, NC_000010.10:g.101494883_101494884insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008986.1:g.2551_2565del, NG_008986.1:g.2552_2565del, NG_008986.1:g.2553_2565del, NG_008986.1:g.2554_2565del, NG_008986.1:g.2555_2565del, NG_008986.1:g.2556_2565del, NG_008986.1:g.2557_2565del, NG_008986.1:g.2560_2565del, NG_008986.1:g.2561_2565del, NG_008986.1:g.2562_2565del, NG_008986.1:g.2563_2565del, NG_008986.1:g.2564_2565del, NG_008986.1:g.2565del, NG_008986.1:g.2565dup, NG_008986.1:g.2564_2565dup, NG_008986.1:g.2563_2565dup, NG_008986.1:g.2562_2565dup, NG_008986.1:g.2561_2565dup, NG_008986.1:g.2560_2565dup, NG_008986.1:g.2559_2565dup, NG_008986.1:g.2558_2565dup, NG_008986.1:g.2557_2565dup, NG_008986.1:g.2556_2565dup, NG_008986.1:g.2555_2565dup, NG_008986.1:g.2554_2565dup, NG_008986.1:g.2550_2565dup, NG_008986.1:g.2549_2565dup, NG_008986.1:g.2547_2565dup, NG_008986.1:g.2541_2565dup, NG_008986.1:g.2565_2566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910271323.

rs1491027132 has merged into rs5787356 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:99726897 (GRCh38)
10:101486654 (GRCh37)
Canonical SPDI:: NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:99726887:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: COX15 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4764/2386 (1000Genomes)
HGVS:: NC_000010.11:g.99726897_99726906del, NC_000010.11:g.99726902_99726906del, NC_000010.11:g.99726903_99726906del, NC_000010.11:g.99726904_99726906del, NC_000010.11:g.99726905_99726906del, NC_000010.11:g.99726906del, NC_000010.11:g.99726906dup, NC_000010.11:g.99726905_99726906dup, NC_000010.11:g.99726904_99726906dup, NC_000010.11:g.99726903_99726906dup, NC_000010.11:g.99726902_99726906dup, NC_000010.11:g.99726901_99726906dup, NC_000010.11:g.99726900_99726906dup, NC_000010.10:g.101486654_101486663del, NC_000010.10:g.101486659_101486663del, NC_000010.10:g.101486660_101486663del, NC_000010.10:g.101486661_101486663del, NC_000010.10:g.101486662_101486663del, NC_000010.10:g.101486663del, NC_000010.10:g.101486663dup, NC_000010.10:g.101486662_101486663dup, NC_000010.10:g.101486661_101486663dup, NC_000010.10:g.101486660_101486663dup, NC_000010.10:g.101486659_101486663dup, NC_000010.10:g.101486658_101486663dup, NC_000010.10:g.101486657_101486663dup, NG_008986.1:g.10770_10779del, NG_008986.1:g.10775_10779del, NG_008986.1:g.10776_10779del, NG_008986.1:g.10777_10779del, NG_008986.1:g.10778_10779del, NG_008986.1:g.10779del, NG_008986.1:g.10779dup, NG_008986.1:g.10778_10779dup, NG_008986.1:g.10777_10779dup, NG_008986.1:g.10776_10779dup, NG_008986.1:g.10775_10779dup, NG_008986.1:g.10774_10779dup, NG_008986.1:g.10773_10779dup

Select item 14908954924.

rs1490895492 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:99717948 (GRCh38)
10:101477705 (GRCh37)
Canonical SPDI:: NC_000010.11:99717947:A:G
Gene:: COX15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99717948A>G, NC_000010.10:g.101477705A>G, NG_008986.1:g.19719T>C

Select item 14908592315.

rs1490859231 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGAGACCCCCTA>- [Show Flanks]
Chromosome:: 10:99730880 (GRCh38)
10:101490637 (GRCh37)
Canonical SPDI:: NC_000010.11:99730877:TAGCGAGACCCCCTA:TA
Gene:: COX15 (Varview), CUTC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99730880_99730892del, NC_000010.10:g.101490637_101490649del, NG_008986.1:g.6777_6789del

Select item 14908483026.

rs1490848302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:99715218 (GRCh38)
10:101474975 (GRCh37)
Canonical SPDI:: NC_000010.11:99715217:A:C
Gene:: COX15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
C=0.0076/14 (Korea1K)
HGVS:: NC_000010.11:g.99715218A>C, NC_000010.10:g.101474975A>C, NG_008986.1:g.22449T>G

Select item 14907928547.

rs1490792854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:99723410 (GRCh38)
10:101483167 (GRCh37)
Canonical SPDI:: NC_000010.11:99723409:G:A
Gene:: COX15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99723410G>A, NC_000010.10:g.101483167G>A, NG_008986.1:g.14257C>T

Select item 14905074728.

rs1490507472 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 10:99713989 (GRCh38)
10:101473746 (GRCh37)
Canonical SPDI:: NC_000010.11:99713988:T:
Gene:: COX15 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.99713989del, NC_000010.10:g.101473746del, NG_008986.1:g.23678del, NM_078470.6:c.*598del, NM_078470.5:c.*598del, NM_078470.4:c.*598del, NM_001320976.2:c.*598del, NM_001320976.1:c.*598del, NM_001320975.2:c.*779del, NM_001320975.1:c.*779del, NM_001372025.1:c.*598del, NM_001372027.1:c.*702del, NM_001372026.1:c.*598del, NR_164009.1:n.1671del

Select item 14904634829.

rs1490463482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99735806 (GRCh38)
10:101495563 (GRCh37)
Canonical SPDI:: NC_000010.11:99735805:T:C
Gene:: CUTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99735806T>C, NC_000010.10:g.101495563T>C, NG_008986.1:g.1861A>G

Select item 149036248510.

rs1490362485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99724092 (GRCh38)
10:101483849 (GRCh37)
Canonical SPDI:: NC_000010.11:99724091:C:T
Gene:: COX15 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.99724092C>T, NC_000010.10:g.101483849C>T, NG_008986.1:g.13575G>A, NM_004376.7:c.614G>A, NM_004376.6:c.614G>A, NM_004376.5:c.614G>A, NM_078470.6:c.614G>A, NM_078470.5:c.614G>A, NM_078470.4:c.614G>A, NM_001320976.2:c.77G>A, NM_001320976.1:c.77G>A, NM_001320975.2:c.614G>A, NM_001320975.1:c.614G>A, NM_001372025.1:c.614G>A, NM_001372027.1:c.614G>A, NM_001372026.1:c.614G>A, NR_164009.1:n.609G>A, NM_001372024.1:c.614G>A, NM_001372028.1:c.614G>A, XM_006717634.4:c.614G>A, XM_006717634.3:c.614G>A, XM_006717634.2:c.614G>A, XM_006717634.1:c.614G>A, NM_001320974.2:c.614G>A, NM_001320974.1:c.614G>A, NP_004367.2:p.Gly205Glu, NP_510870.1:p.Gly205Glu, NP_001307905.1:p.Gly26Glu, NP_001307904.1:p.Gly205Glu, NP_001358954.1:p.Gly205Glu, NP_001358956.1:p.Gly205Glu, NP_001358955.1:p.Gly205Glu, NP_001358953.1:p.Gly205Glu, NP_001358957.1:p.Gly205Glu, XP_006717697.1:p.Gly205Glu, NP_001307903.1:p.Gly205Glu

Select item 149031955211.

rs1490319552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99712295 (GRCh38)
10:101472052 (GRCh37)
Canonical SPDI:: NC_000010.11:99712294:C:T
Gene:: COX15 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.99712295C>T, NC_000010.10:g.101472052C>T, NG_053079.1:g.57919C>T, NG_008986.1:g.25372G>A, NM_004376.7:c.*1119G>A, NM_004376.6:c.*1119G>A, NM_004376.5:c.*1119G>A, NM_078470.6:c.*2292G>A, NM_078470.5:c.*2292G>A, NM_078470.4:c.*2292G>A, NM_001320976.2:c.*2292G>A, NM_001320976.1:c.*2292G>A, NM_001320975.2:c.*2473G>A, NM_001320975.1:c.*2473G>A, NM_001372025.1:c.*2292G>A, NM_001372027.1:c.*2396G>A, NM_001372026.1:c.*2292G>A, NR_164009.1:n.3365G>A, NM_001372024.1:c.*1511G>A, NM_001372028.1:c.*1719G>A

Select item 149029945712.

rs1490299457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99737007 (GRCh38)
10:101496764 (GRCh37)
Canonical SPDI:: NC_000010.11:99737006:C:T
Gene:: CUTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99737007C>T, NC_000010.10:g.101496764C>T, NG_008986.1:g.660G>A

Select item 149010505713.

rs1490105057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:99711122 (GRCh38)
10:101470879 (GRCh37)
Canonical SPDI:: NC_000010.11:99711121:C:A
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: 3_prime_UTR_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_000010.11:g.99711122C>A, NC_000010.10:g.101470879C>A, NG_053079.1:g.56746C>A, NM_020354.5:c.*6439C>A, NM_020354.4:c.*6439C>A, NM_020354.3:c.*6439C>A, NM_001349962.2:c.*6439C>A, NM_001349962.1:c.*6439C>A, NM_001349963.2:c.*6439C>A, NM_001349963.1:c.*6439C>A, NG_008986.1:g.26545G>T, NM_004376.7:c.*2292G>T, NM_004376.6:c.*2292G>T, NM_004376.5:c.*2292G>T, NM_078470.6:c.*3465G>T, NM_078470.5:c.*3465G>T, NM_078470.4:c.*3465G>T, NM_001320976.2:c.*3465G>T, NM_001320976.1:c.*3465G>T, NM_001320975.2:c.*3646G>T, NM_001320975.1:c.*3646G>T, NM_001372025.1:c.*3465G>T, NM_001372027.1:c.*3569G>T, NM_001372026.1:c.*3465G>T, NR_164009.1:n.4538G>T, NM_001372024.1:c.*2684G>T, NM_001372028.1:c.*2892G>T

Select item 149004091314.

rs1490040913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:99730421 (GRCh38)
10:101490178 (GRCh37)
Canonical SPDI:: NC_000010.11:99730420:C:A
Gene:: COX15 (Varview), CUTC (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_000010.11:g.99730421C>A, NC_000010.10:g.101490178C>A, NG_008986.1:g.7246G>T

Select item 149003349015.

rs1490033490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:99716292 (GRCh38)
10:101476049 (GRCh37)
Canonical SPDI:: NC_000010.11:99716291:C:T
Gene:: COX15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.99716292C>T, NC_000010.10:g.101476049C>T, NG_008986.1:g.21375G>A

Select item 148986040616.

rs1489860406 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:99717665 (GRCh38)
10:101477422 (GRCh37)
Canonical SPDI:: NC_000010.11:99717664:GG:G
Gene:: COX15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.99717666del, NC_000010.10:g.101477423del, NG_008986.1:g.20002del

Select item 148977656717.

rs1489776567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99736814 (GRCh38)
10:101496571 (GRCh37)
Canonical SPDI:: NC_000010.11:99736813:T:C
Gene:: CUTC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.99736814T>C, NC_000010.10:g.101496571T>C, NG_008986.1:g.853A>G

Select item 148969514618.

rs1489695146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:99733599 (GRCh38)
10:101493356 (GRCh37)
Canonical SPDI:: NC_000010.11:99733598:A:C
Gene:: COX15 (Varview), CUTC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.99733599A>C, NC_000010.10:g.101493356A>C, NG_008986.1:g.4068T>G

Select item 148956092719.

rs1489560927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:99707045 (GRCh38)
10:101466802 (GRCh37)
Canonical SPDI:: NC_000010.11:99707044:T:C
Gene:: COX15 (Varview), ENTPD7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.99707045T>C, NC_000010.10:g.101466802T>C, NG_053079.1:g.52669T>C, NM_020354.5:c.*2362T>C, NM_020354.4:c.*2362T>C, NM_020354.3:c.*2362T>C, NM_001349962.2:c.*2362T>C, NM_001349962.1:c.*2362T>C, NM_001349963.2:c.*2362T>C, NM_001349963.1:c.*2362T>C, NG_008986.1:g.30622A>G

Select item 148949629720.

rs1489496297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:99726231 (GRCh38)
10:101485988 (GRCh37)
Canonical SPDI:: NC_000010.11:99726230:G:A
Gene:: COX15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.99726231G>A, NC_000010.10:g.101485988G>A, NG_008986.1:g.11436C>T

<< First< Prev

Page of 324

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 6473

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity