SNP Links for Gene (Select 954) - SNP

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Select item 14906717431.

rs1490671743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137048572 (GRCh38)
9:139943024 (GRCh37)
Canonical SPDI:: NC_000009.12:137048571:G:A
Gene:: ENTPD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137048572G>A, NC_000009.11:g.139943024G>A, NG_029427.1:g.10482C>T, NM_001246.4:c.*85C>T, NM_001246.3:c.*85C>T, NM_203468.3:c.*85C>T, NM_203468.2:c.*85C>T, XM_011519212.3:c.*85C>T, XM_011519212.2:c.*85C>T, XM_011519212.1:c.*85C>T

Select item 14906159862.

rs1490615986 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:137047647 (GRCh38)
9:139942099 (GRCh37)
Canonical SPDI:: NC_000009.12:137047646:CT:
Gene:: ENTPD2 (Varview), NPDC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137047647_137047648del, NC_000009.11:g.139942099_139942100del, NG_029427.1:g.11406_11407del

Select item 14904217953.

rs1490421795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137053591 (GRCh38)
9:139948043 (GRCh37)
Canonical SPDI:: NC_000009.12:137053590:G:A
Gene:: ENTPD2 (Varview), LOC105376327 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_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_000009.12:g.137053591G>A, NC_000009.11:g.139948043G>A, NG_029427.1:g.5463C>T

Select item 14903333674.

rs1490333367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137048534 (GRCh38)
9:139942986 (GRCh37)
Canonical SPDI:: NC_000009.12:137048533:A:G
Gene:: ENTPD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000009.12:g.137048534A>G, NC_000009.11:g.139942986A>G, NG_029427.1:g.10520T>C, NM_001246.4:c.*123T>C, NM_001246.3:c.*123T>C, NM_203468.3:c.*123T>C, NM_203468.2:c.*123T>C, XM_011519212.3:c.*123T>C, XM_011519212.2:c.*123T>C, XM_011519212.1:c.*123T>C

Select item 14901303645.

rs1490130364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:137054903 (GRCh38)
9:139949355 (GRCh37)
Canonical SPDI:: NC_000009.12:137054902:G:A,NC_000009.12:137054902:G:C
Gene:: ENTPD2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137054903G>A, NC_000009.12:g.137054903G>C, NC_000009.11:g.139949355G>A, NC_000009.11:g.139949355G>C, NG_029427.1:g.4151C>T, NG_029427.1:g.4151C>G

Select item 14892842026.

rs1489284202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:137050984 (GRCh38)
9:139945436 (GRCh37)
Canonical SPDI:: NC_000009.12:137050983:T:C,NC_000009.12:137050983:T:G
Gene:: ENTPD2 (Varview), LOC105376327 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137050984T>C, NC_000009.12:g.137050984T>G, NC_000009.11:g.139945436T>C, NC_000009.11:g.139945436T>G, NG_029427.1:g.8070A>G, NG_029427.1:g.8070A>C, NM_001246.4:c.692A>G, NM_001246.4:c.692A>C, NM_001246.3:c.692A>G, NM_001246.3:c.692A>C, NM_203468.3:c.692A>G, NM_203468.3:c.692A>C, NM_203468.2:c.692A>G, NM_203468.2:c.692A>C, XM_011519212.3:c.383A>G, XM_011519212.3:c.383A>C, XM_011519212.2:c.383A>G, XM_011519212.2:c.383A>C, XM_011519212.1:c.383A>G, XM_011519212.1:c.383A>C, NP_001237.1:p.Gln231Arg, NP_001237.1:p.Gln231Pro, NP_982293.1:p.Gln231Arg, NP_982293.1:p.Gln231Pro, XP_011517514.1:p.Gln128Arg, XP_011517514.1:p.Gln128Pro

Select item 14884445407.

rs1488444540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137052903 (GRCh38)
9:139947355 (GRCh37)
Canonical SPDI:: NC_000009.12:137052902:C:T
Gene:: ENTPD2 (Varview), LOC105376327 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.137052903C>T, NC_000009.11:g.139947355C>T, NG_029427.1:g.6151G>A

Select item 14883367208.

rs1488336720 has merged into rs925068228 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 9:137055598 (GRCh38)
9:139950050 (GRCh37)
Canonical SPDI:: NC_000009.12:137055597:AAAA:AAA,NC_000009.12:137055597:AAAA:AAAAA
Gene:: ENTPD2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.137055601del, NC_000009.12:g.137055601dup, NC_000009.11:g.139950053del, NC_000009.11:g.139950053dup, NG_029427.1:g.3456del, NG_029427.1:g.3456dup

Select item 14879022189.

rs1487902218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137050929 (GRCh38)
9:139945381 (GRCh37)
Canonical SPDI:: NC_000009.12:137050928:G:A
Gene:: ENTPD2 (Varview), LOC105376327 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137050929G>A, NC_000009.11:g.139945381G>A, NG_029427.1:g.8125C>T, NM_001246.4:c.747C>T, NM_001246.3:c.747C>T, NM_203468.3:c.747C>T, NM_203468.2:c.747C>T, XM_011519212.3:c.438C>T, XM_011519212.2:c.438C>T, XM_011519212.1:c.438C>T

Select item 148777872410.

rs1487778724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:137052245 (GRCh38)
9:139946697 (GRCh37)
Canonical SPDI:: NC_000009.12:137052244:G:C
Gene:: ENTPD2 (Varview), LOC105376327 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137052245G>C, NC_000009.11:g.139946697G>C, NG_029427.1:g.6809C>G, NM_001246.4:c.221C>G, NM_001246.3:c.221C>G, NM_203468.3:c.221C>G, NM_203468.2:c.221C>G, XM_011519212.3:c.-73C>G, XM_011519212.2:c.-73C>G, XM_011519212.1:c.-73C>G, NP_001237.1:p.Ser74Cys, NP_982293.1:p.Ser74Cys

Select item 148740895911.

rs1487408959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137055909 (GRCh38)
9:139950361 (GRCh37)
Canonical SPDI:: NC_000009.12:137055908:C:T
Gene:: ENTPD2 (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=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.137055909C>T, NC_000009.11:g.139950361C>T, NG_029427.1:g.3145G>A

Select item 148732015312.

rs1487320153 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGGGTGTGCCCGCGTGTCTCTCTTTGGGCA>- [Show Flanks]
Chromosome:: 9:137051545 (GRCh38)
9:139945997 (GRCh37)
Canonical SPDI:: NC_000009.12:137051543:AGAGGGGTGTGCCCGCGTGTCTCTCTTTGGGCA:A
Gene:: ENTPD2 (Varview), LOC105376327 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.137051545_137051576del, NC_000009.11:g.139945997_139946028del, NG_029427.1:g.7479_7510del, NM_001246.4:c.321_352del, NM_001246.3:c.321_352del, NM_203468.3:c.321_352del, NM_203468.2:c.321_352del, XM_011519212.3:c.28_59del, XM_011519212.2:c.28_59del, XM_011519212.1:c.28_59del, NP_001237.1:p.Lys109fs, NP_982293.1:p.Lys109fs, XP_011517514.1:p.Ala10fs

Select item 148706675413.

rs1487066754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:137055554 (GRCh38)
9:139950006 (GRCh37)
Canonical SPDI:: NC_000009.12:137055553:C:T
Gene:: ENTPD2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.137055554C>T, NC_000009.11:g.139950006C>T, NG_029427.1:g.3500G>A

Select item 148705724514.

rs1487057245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137055494 (GRCh38)
9:139949946 (GRCh37)
Canonical SPDI:: NC_000009.12:137055493:G:A
Gene:: ENTPD2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.137055494G>A, NC_000009.11:g.139949946G>A, NG_029427.1:g.3560C>T

Select item 148697881915.

rs1486978819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:137047887 (GRCh38)
9:139942339 (GRCh37)
Canonical SPDI:: NC_000009.12:137047886:C:G
Gene:: ENTPD2 (Varview), NPDC1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000064/9 (GnomAD)
HGVS:: NC_000009.12:g.137047887C>G, NC_000009.11:g.139942339C>G, NG_029427.1:g.11167G>C

Select item 148677746416.

rs1486777464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:137049389 (GRCh38)
9:139943841 (GRCh37)
Canonical SPDI:: NC_000009.12:137049388:A:G
Gene:: ENTPD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.137049389A>G, NC_000009.11:g.139943841A>G, NG_029427.1:g.9665T>C

Select item 148638783417.

rs1486387834 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:137050784 (GRCh38)
9:139945236 (GRCh37)
Canonical SPDI:: NC_000009.12:137050783:CC:C
Gene:: ENTPD2 (Varview), LOC105376327 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.137050785del, NC_000009.11:g.139945237del, NG_029427.1:g.8270del

Select item 148589489018.

rs1485894890 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CCATTGAAAGAGCATCGGGAGAAGGGGCAGGAGGAGAAGCT
Chromosome:: no mapping
Canonical SPDI:

Select item 148556764919.

rs1485567649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:137054380 (GRCh38)
9:139948832 (GRCh37)
Canonical SPDI:: NC_000009.12:137054379:G:A
Gene:: ENTPD2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.137054380G>A, NC_000009.11:g.139948832G>A, NG_029427.1:g.4674C>T