SNP Links for Nucleotide (Select 1062593959) - SNP

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48270918 (GRCh38)
19:48774175 (GRCh37)
Canonical SPDI:: NC_000019.10:48270917:G:T
Gene:: ZNF114 (Varview), ZNF114-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48270918G>T, NC_000019.9:g.48774175G>T, NM_001331097.1:c.-552G>T

Select item 14826110676.

rs1482611067 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCAA>- [Show Flanks]
Chromosome:: 19:48286404 (GRCh38)
19:48789661 (GRCh37)
Canonical SPDI:: NC_000019.10:48286401:AACTCAA:AA
Gene:: ZNF114 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48286404_48286408del, NC_000019.9:g.48789661_48789665del, NM_153608.4:c.780_784del, NM_153608.3:c.780_784del, NM_153608.2:c.780_784del, NM_153608.1:c.780_784del, XM_017026414.3:c.918_922del, XM_017026414.2:c.918_922del, XM_017026414.1:c.918_922del, NM_001331097.1:c.780_784del, NM_001331098.1:c.918_922del, NM_001369811.1:c.780_784del, NM_001369812.1:c.780_784del, NM_001301062.1:c.678_682del, NP_705836.1:p.Ile262fs, XP_016881903.1:p.Ile308fs, NP_001318026.1:p.Ile262fs, NP_001318027.1:p.Ile308fs, NP_001356740.1:p.Ile262fs, NP_001356741.1:p.Ile262fs

Select item 14821479207.

rs1482147920 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGG>- [Show Flanks]
Chromosome:: 19:48286883 (GRCh38)
19:48790140 (GRCh37)
Canonical SPDI:: NC_000019.10:48286878:AAGGAAGG:AAGG
Gene:: ZNF114 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGGAAGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48286879AAGG[1], NC_000019.9:g.48790136AAGG[1], NM_153608.4:c.*1AAGG[1], NM_153608.3:c.*1AAGG[1], NM_153608.2:c.*1AAGG[1], NM_153608.1:c.*1AAGG[1], XM_017026414.3:c.*1AAGG[1], XM_017026414.2:c.*1AAGG[1], XM_017026414.1:c.*1AAGG[1], NM_001331097.1:c.*1AAGG[1], NM_001331098.1:c.*1AAGG[1], NM_001369811.1:c.*1AAGG[1], NM_001369812.1:c.*1AAGG[1], NM_001301062.1:c.*1AAGG[1]

Select item 14817922828.

rs1481792282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:48271038 (GRCh38)
19:48774295 (GRCh37)
Canonical SPDI:: NC_000019.10:48271037:A:T
Gene:: ZNF114 (Varview), ZNF114-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48271038A>T, NC_000019.9:g.48774295A>T, NM_001331097.1:c.-432A>T

Select item 14794878089.

rs1479487808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48286787 (GRCh38)
19:48790044 (GRCh37)
Canonical SPDI:: NC_000019.10:48286786:A:G
Gene:: ZNF114 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48286787A>G, NC_000019.9:g.48790044A>G, NM_153608.4:c.1163A>G, NM_153608.3:c.1163A>G, NM_153608.2:c.1163A>G, NM_153608.1:c.1163A>G, XM_017026414.3:c.1301A>G, XM_017026414.2:c.1301A>G, XM_017026414.1:c.1301A>G, NM_001331097.1:c.1163A>G, NM_001331098.1:c.1301A>G, NM_001369811.1:c.1163A>G, NM_001369812.1:c.1163A>G, NM_001301062.1:c.1061A>G, NP_705836.1:p.Tyr388Cys, XP_016881903.1:p.Tyr434Cys, NP_001318026.1:p.Tyr388Cys, NP_001318027.1:p.Tyr434Cys, NP_001356740.1:p.Tyr388Cys, NP_001356741.1:p.Tyr388Cys

Select item 147796648710.

rs1477966487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48286335 (GRCh38)
19:48789592 (GRCh37)
Canonical SPDI:: NC_000019.10:48286334:G:C
Gene:: ZNF114 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48286335G>C, NC_000019.9:g.48789592G>C, NM_153608.4:c.711G>C, NM_153608.3:c.711G>C, NM_153608.2:c.711G>C, NM_153608.1:c.711G>C, XM_017026414.3:c.849G>C, XM_017026414.2:c.849G>C, XM_017026414.1:c.849G>C, NM_001331097.1:c.711G>C, NM_001331098.1:c.849G>C, NM_001369811.1:c.711G>C, NM_001369812.1:c.711G>C, NM_001301062.1:c.609G>C, NP_705836.1:p.Arg237Ser, XP_016881903.1:p.Arg283Ser, NP_001318026.1:p.Arg237Ser, NP_001318027.1:p.Arg283Ser, NP_001356740.1:p.Arg237Ser, NP_001356741.1:p.Arg237Ser

Select item 147705577811.

rs1477055778 has merged into rs1426754041 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 19:48287509 (GRCh38)
19:48790766 (GRCh37)
Canonical SPDI:: NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ZNF114 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.48287509_48287510del, NC_000019.10:g.48287510del, NC_000019.10:g.48287510dup, NC_000019.10:g.48287509_48287510dup, NC_000019.9:g.48790766_48790767del, NC_000019.9:g.48790767del, NC_000019.9:g.48790767dup, NC_000019.9:g.48790766_48790767dup, NM_153608.4:c.*631_*632del, NM_153608.4:c.*632del, NM_153608.4:c.*632dup, NM_153608.4:c.*631_*632dup, NM_153608.3:c.*631_*632del, NM_153608.3:c.*632del, NM_153608.3:c.*632dup, NM_153608.3:c.*631_*632dup, NM_153608.2:c.*631_*632del, NM_153608.2:c.*632del, NM_153608.2:c.*632dup, NM_153608.2:c.*631_*632dup, NM_153608.1:c.*631_*632del, NM_153608.1:c.*632del, NM_153608.1:c.*632dup, NM_153608.1:c.*631_*632dup, XM_017026414.3:c.*631_*632del, XM_017026414.3:c.*632del, XM_017026414.3:c.*632dup, XM_017026414.3:c.*631_*632dup, XM_017026414.2:c.*631_*632del, XM_017026414.2:c.*632del, XM_017026414.2:c.*632dup, XM_017026414.2:c.*631_*632dup, XM_017026414.1:c.*631_*632del, XM_017026414.1:c.*632del, XM_017026414.1:c.*632dup, XM_017026414.1:c.*631_*632dup, NM_001331097.1:c.*631_*632del, NM_001331097.1:c.*632del, NM_001331097.1:c.*632dup, NM_001331097.1:c.*631_*632dup, NM_001331098.1:c.*631_*632del, NM_001331098.1:c.*632del, NM_001331098.1:c.*632dup, NM_001331098.1:c.*631_*632dup, NM_001369811.1:c.*631_*632del, NM_001369811.1:c.*632del, NM_001369811.1:c.*632dup, NM_001369811.1:c.*631_*632dup, NM_001369812.1:c.*631_*632del, NM_001369812.1:c.*632del, NM_001369812.1:c.*632dup, NM_001369812.1:c.*631_*632dup, NM_001301062.1:c.*631_*632del, NM_001301062.1:c.*632del, NM_001301062.1:c.*632dup, NM_001301062.1:c.*631_*632dup

Select item 147572561212.

rs1475725612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:48271106 (GRCh38)
19:48774363 (GRCh37)
Canonical SPDI:: NC_000019.10:48271105:C:A
Gene:: ZNF114 (Varview), ZNF114-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48271106C>A, NC_000019.9:g.48774363C>A, NM_001331097.1:c.-364C>A

Select item 147480626813.

rs1474806268 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48270927 (GRCh38)
19:48774184 (GRCh37)
Canonical SPDI:: NC_000019.10:48270926:G:A
Gene:: ZNF114 (Varview), ZNF114-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48270927G>A, NC_000019.9:g.48774184G>A, NM_001331097.1:c.-543G>A

Select item 147343576314.

rs1473435763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:48287349 (GRCh38)
19:48790606 (GRCh37)
Canonical SPDI:: NC_000019.10:48287348:T:A
Gene:: ZNF114 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48287349T>A, NC_000019.9:g.48790606T>A, NM_153608.4:c.*471T>A, NM_153608.3:c.*471T>A, NM_153608.2:c.*471T>A, NM_153608.1:c.*471T>A, XM_017026414.3:c.*471T>A, XM_017026414.2:c.*471T>A, XM_017026414.1:c.*471T>A, NM_001331097.1:c.*471T>A, NM_001331098.1:c.*471T>A, NM_001369811.1:c.*471T>A, NM_001369812.1:c.*471T>A, NM_001301062.1:c.*471T>A

Select item 147274651915.

rs1472746519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:48286378 (GRCh38)
19:48789635 (GRCh37)
Canonical SPDI:: NC_000019.10:48286377:C:G,NC_000019.10:48286377:C:T
Gene:: ZNF114 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48286378C>G, NC_000019.10:g.48286378C>T, NC_000019.9:g.48789635C>G, NC_000019.9:g.48789635C>T, NM_153608.4:c.754C>G, NM_153608.4:c.754C>T, NM_153608.3:c.754C>G, NM_153608.3:c.754C>T, NM_153608.2:c.754C>G, NM_153608.2:c.754C>T, NM_153608.1:c.754C>G, NM_153608.1:c.754C>T, XM_017026414.3:c.892C>G, XM_017026414.3:c.892C>T, XM_017026414.2:c.892C>G, XM_017026414.2:c.892C>T, XM_017026414.1:c.892C>G, XM_017026414.1:c.892C>T, NM_001331097.1:c.754C>G, NM_001331097.1:c.754C>T, NM_001331098.1:c.892C>G, NM_001331098.1:c.892C>T, NM_001369811.1:c.754C>G, NM_001369811.1:c.754C>T, NM_001369812.1:c.754C>G, NM_001369812.1:c.754C>T, NM_001301062.1:c.652C>G, NM_001301062.1:c.652C>T, NP_705836.1:p.Gln252Glu, NP_705836.1:p.Gln252Ter, XP_016881903.1:p.Gln298Glu, XP_016881903.1:p.Gln298Ter, NP_001318026.1:p.Gln252Glu, NP_001318026.1:p.Gln252Ter, NP_001318027.1:p.Gln298Glu, NP_001318027.1:p.Gln298Ter, NP_001356740.1:p.Gln252Glu, NP_001356740.1:p.Gln252Ter, NP_001356741.1:p.Gln252Glu, NP_001356741.1:p.Gln252Ter

Select item 147144257916.

rs1471442579 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>-,GAAAGAAA [Show Flanks]
Chromosome:: 19:48271076 (GRCh38)
19:48774333 (GRCh37)
Canonical SPDI:: NC_000019.10:48271064:AAAGAAAGAAAGAAA:AAAGAAAGAAA,NC_000019.10:48271064:AAAGAAAGAAAGAAA:AAAGAAAGAAAGAAAGAAA
Gene:: ZNF114 (Varview), ZNF114-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAAGAAA=0.00018/3 (ALFA)
-=0.00029/5 (TOMMO)
HGVS:: NC_000019.10:g.48271068GAAA[2], NC_000019.10:g.48271068GAAA[4], NC_000019.9:g.48774325GAAA[2], NC_000019.9:g.48774325GAAA[4], NM_001331097.1:c.-402GAAA[2], NM_001331097.1:c.-402GAAA[4]

Select item 147143846317.

rs1471438463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:48286056 (GRCh38)
19:48789313 (GRCh37)
Canonical SPDI:: NC_000019.10:48286055:T:A
Gene:: ZNF114 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48286056T>A, NC_000019.9:g.48789313T>A, NM_153608.4:c.432T>A, NM_153608.3:c.432T>A, NM_153608.2:c.432T>A, NM_153608.1:c.432T>A, XM_017026414.3:c.570T>A, XM_017026414.2:c.570T>A, XM_017026414.1:c.570T>A, NM_001331097.1:c.432T>A, NM_001331098.1:c.570T>A, NM_001369811.1:c.432T>A, NM_001369812.1:c.432T>A, NM_001301062.1:c.330T>A, NP_705836.1:p.Asp144Glu, XP_016881903.1:p.Asp190Glu, NP_001318026.1:p.Asp144Glu, NP_001318027.1:p.Asp190Glu, NP_001356740.1:p.Asp144Glu, NP_001356741.1:p.Asp144Glu

Select item 146939663418.

rs1469396634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:48282490 (GRCh38)
19:48785747 (GRCh37)
Canonical SPDI:: NC_000019.10:48282489:A:C
Gene:: ZNF114 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.48282490A>C, NC_000019.9:g.48785747A>C, NM_153608.4:c.129A>C, NM_153608.3:c.129A>C, NM_153608.2:c.129A>C, NM_153608.1:c.129A>C, XM_017026414.3:c.267A>C, XM_017026414.2:c.267A>C, XM_017026414.1:c.267A>C, NM_001331097.1:c.129A>C, NM_001331098.1:c.267A>C, NM_001369811.1:c.129A>C, NM_001369812.1:c.129A>C, NM_001301062.1:c.27A>C

Select item 146919313219.

rs1469193132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:48270940 (GRCh38)
19:48774197 (GRCh37)
Canonical SPDI:: NC_000019.10:48270939:C:G,NC_000019.10:48270939:C:T
Gene:: ZNF114 (Varview), ZNF114-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48270940C>G, NC_000019.10:g.48270940C>T, NC_000019.9:g.48774197C>G, NC_000019.9:g.48774197C>T, NM_001331097.1:c.-530C>G, NM_001331097.1:c.-530C>T

Select item 146768476220.

rs1467684762 has merged into rs1426754041 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 19:48287509 (GRCh38)
19:48790766 (GRCh37)
Canonical SPDI:: NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:48287496:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ZNF114 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.48287509_48287510del, NC_000019.10:g.48287510del, NC_000019.10:g.48287510dup, NC_000019.10:g.48287509_48287510dup, NC_000019.9:g.48790766_48790767del, NC_000019.9:g.48790767del, NC_000019.9:g.48790767dup, NC_000019.9:g.48790766_48790767dup, NM_153608.4:c.*631_*632del, NM_153608.4:c.*632del, NM_153608.4:c.*632dup, NM_153608.4:c.*631_*632dup, NM_153608.3:c.*631_*632del, NM_153608.3:c.*632del, NM_153608.3:c.*632dup, NM_153608.3:c.*631_*632dup, NM_153608.2:c.*631_*632del, NM_153608.2:c.*632del, NM_153608.2:c.*632dup, NM_153608.2:c.*631_*632dup, NM_153608.1:c.*631_*632del, NM_153608.1:c.*632del, NM_153608.1:c.*632dup, NM_153608.1:c.*631_*632dup, XM_017026414.3:c.*631_*632del, XM_017026414.3:c.*632del, XM_017026414.3:c.*632dup, XM_017026414.3:c.*631_*632dup, XM_017026414.2:c.*631_*632del, XM_017026414.2:c.*632del, XM_017026414.2:c.*632dup, XM_017026414.2:c.*631_*632dup, XM_017026414.1:c.*631_*632del, XM_017026414.1:c.*632del, XM_017026414.1:c.*632dup, XM_017026414.1:c.*631_*632dup, NM_001331097.1:c.*631_*632del, NM_001331097.1:c.*632del, NM_001331097.1:c.*632dup, NM_001331097.1:c.*631_*632dup, NM_001331098.1:c.*631_*632del, NM_001331098.1:c.*632del, NM_001331098.1:c.*632dup, NM_001331098.1:c.*631_*632dup, NM_001369811.1:c.*631_*632del, NM_001369811.1:c.*632del, NM_001369811.1:c.*632dup, NM_001369811.1:c.*631_*632dup, NM_001369812.1:c.*631_*632del, NM_001369812.1:c.*632del, NM_001369812.1:c.*632dup, NM_001369812.1:c.*631_*632dup, NM_001301062.1:c.*631_*632del, NM_001301062.1:c.*632del, NM_001301062.1:c.*632dup, NM_001301062.1:c.*631_*632dup

dbSNP

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