SNP Links for Gene (Select 283948) - SNP

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Select item 14906585161.

rs1490658516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:566368 (GRCh38)
16:616368 (GRCh37)
Canonical SPDI:: NC_000016.10:566367:C:T
Gene:: NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.566368C>T, NC_000016.9:g.616368C>T, NG_034206.1:g.1401C>T

Select item 14901387572.

rs1490138757 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14901005773.

rs1490100577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:567728 (GRCh38)
16:617728 (GRCh37)
Canonical SPDI:: NC_000016.10:567727:T:A
Gene:: NHLRC4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.567728T>A, NC_000016.9:g.617728T>A, NG_034206.1:g.2761T>A, NM_176677.3:c.-320T>A, NM_176677.2:c.-320T>A, NM_176677.1:c.-320T>A, NM_001301159.2:c.-320T>A, NM_001301159.1:c.-320T>A

Select item 14900608804.

rs1490060880 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:569442 (GRCh38)
16:619442 (GRCh37)
Canonical SPDI:: NC_000016.10:569441:GGGGG:GGGG
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.00007/1 (ALFA)
HGVS:: NC_000016.10:g.569446del, NC_000016.9:g.619446del, NG_034206.1:g.4479del, NM_176677.3:c.*1027del, NM_176677.2:c.*1027del, NM_176677.1:c.*1027del, NM_001301159.2:c.*1027del, NM_001301159.1:c.*1027del

Select item 14900352075.

rs1490035207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 16:567020 (GRCh38)
16:617020 (GRCh37)
Canonical SPDI:: NC_000016.10:567019:C:A,NC_000016.10:567019:C:G,NC_000016.10:567019:C:T
Gene:: NHLRC4 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000016.10:g.567020C>A, NC_000016.10:g.567020C>G, NC_000016.10:g.567020C>T, NC_000016.9:g.617020C>A, NC_000016.9:g.617020C>G, NC_000016.9:g.617020C>T, NG_034206.1:g.2053C>A, NG_034206.1:g.2053C>G, NG_034206.1:g.2053C>T, NM_176677.3:c.-608C>A, NM_176677.3:c.-608C>G, NM_176677.3:c.-608C>T, NM_176677.2:c.-608C>A, NM_176677.2:c.-608C>G, NM_176677.2:c.-608C>T, NM_001301159.2:c.-633C>A, NM_001301159.2:c.-633C>G, NM_001301159.2:c.-633C>T, NM_001301159.1:c.-633C>A, NM_001301159.1:c.-633C>G, NM_001301159.1:c.-633C>T

Select item 14897244756.

rs1489724475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:566576 (GRCh38)
16:616576 (GRCh37)
Canonical SPDI:: NC_000016.10:566575:T:C
Gene:: NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.566576T>C, NC_000016.9:g.616576T>C, NG_034206.1:g.1609T>C

Select item 14894855387.

rs1489485538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:567264 (GRCh38)
16:617264 (GRCh37)
Canonical SPDI:: NC_000016.10:567263:A:G
Gene:: NHLRC4 (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_000016.10:g.567264A>G, NC_000016.9:g.617264A>G, NG_034206.1:g.2297A>G

Select item 14894454498.

rs1489445449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:569874 (GRCh38)
16:619874 (GRCh37)
Canonical SPDI:: NC_000016.10:569873:C:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.569874C>T, NC_000016.9:g.619874C>T, NG_034206.1:g.4907C>T

Select item 14872686709.

rs1487268670 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148700825810.

rs1487008258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:566329 (GRCh38)
16:616329 (GRCh37)
Canonical SPDI:: NC_000016.10:566328:C:T
Gene:: NHLRC4 (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=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.566329C>T, NC_000016.9:g.616329C>T, NG_034206.1:g.1362C>T

Select item 148676108011.

rs1486761080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:565288 (GRCh38)
16:615288 (GRCh37)
Canonical SPDI:: NC_000016.10:565287:C:G
Gene:: PRR35 (Varview), NHLRC4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.565288C>G, NC_000016.9:g.615288C>G, NG_034206.1:g.321C>G, XM_017022960.3:c.1697C>G, XM_017022960.2:c.1697C>G, XM_017022960.1:c.1697C>G, XM_017022959.3:c.1697C>G, XM_017022959.2:c.1697C>G, XM_017022959.1:c.1697C>G, NM_145270.3:c.1697C>G, NM_145270.2:c.1697C>G, XM_017022961.1:c.995C>G, XP_016878449.1:p.Pro566Arg, XP_016878448.1:p.Pro566Arg, NP_660313.1:p.Pro566Arg, XP_016878450.1:p.Pro332Arg

Select item 148659204012.

rs1486592040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:565853 (GRCh38)
16:615853 (GRCh37)
Canonical SPDI:: NC_000016.10:565852:C:G
Gene:: PRR35 (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.00003/3 (GnomAD)
HGVS:: NC_000016.10:g.565853C>G, NC_000016.9:g.615853C>G, NG_034206.1:g.886C>G

Select item 148618431313.

rs1486184313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:569064 (GRCh38)
16:619064 (GRCh37)
Canonical SPDI:: NC_000016.10:569063:C:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_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_000016.10:g.569064C>T, NC_000016.9:g.619064C>T, NG_034206.1:g.4097C>T, NM_176677.3:c.*645C>T, NM_176677.2:c.*645C>T, NM_176677.1:c.*645C>T, NM_001301159.2:c.*645C>T, NM_001301159.1:c.*645C>T

Select item 148472481014.

rs1484724810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:565409 (GRCh38)
16:615409 (GRCh37)
Canonical SPDI:: NC_000016.10:565408:G:C
Gene:: PRR35 (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.565409G>C, NC_000016.9:g.615409G>C, NG_034206.1:g.442G>C, XM_017022960.3:c.*102G>C, XM_017022960.2:c.*102G>C, XM_017022960.1:c.*102G>C, XM_017022959.3:c.*102G>C, XM_017022959.2:c.*102G>C, XM_017022959.1:c.*102G>C, NM_145270.3:c.*102G>C, NM_145270.2:c.*102G>C, XM_017022961.1:c.*102G>C

Select item 148403191615.

rs1484031916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:566377 (GRCh38)
16:616377 (GRCh37)
Canonical SPDI:: NC_000016.10:566376:A:G
Gene:: NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.566377A>G, NC_000016.9:g.616377A>G, NG_034206.1:g.1410A>G

Select item 148363353216.

rs1483633532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:569728 (GRCh38)
16:619728 (GRCh37)
Canonical SPDI:: NC_000016.10:569727:C:A
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_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_000016.10:g.569728C>A, NC_000016.9:g.619728C>A, NG_034206.1:g.4761C>A

Select item 148349542317.

rs1483495423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:568425 (GRCh38)
16:618425 (GRCh37)
Canonical SPDI:: NC_000016.10:568424:G:C
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.568425G>C, NC_000016.9:g.618425G>C, NG_034206.1:g.3458G>C, NM_176677.3:c.*6G>C, NM_176677.2:c.*6G>C, NM_176677.1:c.*6G>C, NM_001301159.2:c.*6G>C, NM_001301159.1:c.*6G>C

Select item 148319395418.

rs1483193954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:569921 (GRCh38)
16:619921 (GRCh37)
Canonical SPDI:: NC_000016.10:569920:G:T
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.569921G>T, NC_000016.9:g.619921G>T, NG_034206.1:g.4954G>T

Select item 148312155019.

rs1483121550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:565136 (GRCh38)
16:615136 (GRCh37)
Canonical SPDI:: NC_000016.10:565135:C:T
Gene:: PRR35 (Varview), NHLRC4 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.565136C>T, NC_000016.9:g.615136C>T, NG_034206.1:g.169C>T, XM_017022960.3:c.1545C>T, XM_017022960.2:c.1545C>T, XM_017022960.1:c.1545C>T, XM_017022959.3:c.1545C>T, XM_017022959.2:c.1545C>T, XM_017022959.1:c.1545C>T, NM_145270.3:c.1545C>T, NM_145270.2:c.1545C>T, XM_017022961.1:c.843C>T

Select item 148195621620.

rs1481956216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:569809 (GRCh38)
16:619809 (GRCh37)
Canonical SPDI:: NC_000016.10:569808:G:A,NC_000016.10:569808:G:C
Gene:: PIGQ (Varview), NHLRC4 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.569809G>A, NC_000016.10:g.569809G>C, NC_000016.9:g.619809G>A, NC_000016.9:g.619809G>C, NG_034206.1:g.4842G>A, NG_034206.1:g.4842G>C