SNP Links for Nucleotide (Select 380422414) - SNP

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Links from Nucleotide

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Select item 14906172711.

rs1490617271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:47635826 (GRCh38)
X:47495225 (GRCh37)
Canonical SPDI:: NC_000023.11:47635825:G:C
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.47635826G>C, NC_000023.10:g.47495225G>C, NG_009222.1:g.19779C>G, NM_005229.4:c.*1003C>G, NM_001114123.3:c.*1003C>G, NM_001114123.2:c.*1003C>G, NM_001257168.1:c.*1124C>G

Select item 14902485662.

rs1490248566 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:47636783 (GRCh38)
X:47496182 (GRCh37)
Canonical SPDI:: NC_000023.11:47636782:AT:
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47636783_47636784del, NC_000023.10:g.47496182_47496183del, NG_009222.1:g.18821_18822del, NM_005229.4:c.*45_*46del, NM_001114123.3:c.*45_*46del, NM_001114123.2:c.*45_*46del, NM_001257168.1:c.*166_*167del

Select item 14893694813.

rs1489369481 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: X:47650593 (GRCh38)
X:47509993 (GRCh37)
Canonical SPDI:: NC_000023.11:47650593::A
Gene:: ELK1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47650593_47650594insA, NC_000023.10:g.47509992_47509993insA, NG_009222.1:g.5011_5012insT, NM_005229.4:c.-206_-205insT, NM_001114123.2:c.-312_-311insT, NM_001257168.1:c.-312_-311insT, NG_070969.1:g.668_669insA

Select item 14886395174.

rs1488639517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:47636138 (GRCh38)
X:47495537 (GRCh37)
Canonical SPDI:: NC_000023.11:47636137:C:A
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.47636138C>A, NC_000023.10:g.47495537C>A, NG_009222.1:g.19467G>T, NM_005229.4:c.*691G>T, NM_001114123.3:c.*691G>T, NM_001114123.2:c.*691G>T, NM_001257168.1:c.*812G>T

Select item 14884179925.

rs1488417992 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:47641465 (GRCh38)
X:47500864 (GRCh37)
Canonical SPDI:: NC_000023.11:47641464:CCC:CC
Gene:: ELK1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.47641467del, NC_000023.10:g.47500866del, NG_009222.1:g.14140del, NM_005229.4:c.-24del, NM_001114123.3:c.-24del, NM_001114123.2:c.-24del, NM_001257168.1:c.-24del

Select item 14867301256.

rs1486730125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47636020 (GRCh38)
X:47495419 (GRCh37)
Canonical SPDI:: NC_000023.11:47636019:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.47636020C>T, NC_000023.10:g.47495419C>T, NG_009222.1:g.19585G>A, NM_005229.4:c.*809G>A, NM_001114123.3:c.*809G>A, NM_001114123.2:c.*809G>A, NM_001257168.1:c.*930G>A

Select item 14865703527.

rs1486570352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47638948 (GRCh38)
X:47498347 (GRCh37)
Canonical SPDI:: NC_000023.11:47638947:G:A
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.47638948G>A, NC_000023.10:g.47498347G>A, NG_009222.1:g.16657C>T, NM_005229.4:c.601C>T, NM_001114123.3:c.601C>T, NM_001114123.2:c.601C>T, NP_005220.2:p.Pro201Ser, NP_001107595.1:p.Pro201Ser

Select item 14865171608.

rs1486517160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47650604 (GRCh38)
X:47510003 (GRCh37)
Canonical SPDI:: NC_000023.11:47650603:G:A
Gene:: ELK1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47650604G>A, NC_000023.10:g.47510003G>A, NG_009222.1:g.5001C>T, NM_005229.4:c.-216C>T, NM_001114123.2:c.-322C>T, NM_001257168.1:c.-322C>T, NG_070969.1:g.679G>A

Select item 14863875889.

rs1486387588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47639218 (GRCh38)
X:47498617 (GRCh37)
Canonical SPDI:: NC_000023.11:47639217:T:C
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47639218T>C, NC_000023.10:g.47498617T>C, NG_009222.1:g.16387A>G, NM_005229.4:c.331A>G, NM_001114123.3:c.331A>G, NM_001114123.2:c.331A>G, NP_005220.2:p.Met111Val, NP_001107595.1:p.Met111Val

Select item 148578355110.

rs1485783551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47636173 (GRCh38)
X:47495572 (GRCh37)
Canonical SPDI:: NC_000023.11:47636172:G:A
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47636173G>A, NC_000023.10:g.47495572G>A, NG_009222.1:g.19432C>T, NM_005229.4:c.*656C>T, NM_001114123.3:c.*656C>T, NM_001114123.2:c.*656C>T, NM_001257168.1:c.*777C>T

Select item 148449630411.

rs1484496304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:47636712 (GRCh38)
X:47496111 (GRCh37)
Canonical SPDI:: NC_000023.11:47636711:C:G
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.47636712C>G, NC_000023.10:g.47496111C>G, NG_009222.1:g.18893G>C, NM_005229.4:c.*117G>C, NM_001114123.3:c.*117G>C, NM_001114123.2:c.*117G>C, NM_001257168.1:c.*238G>C

Select item 148294862612.

rs1482948626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47637852 (GRCh38)
X:47497251 (GRCh37)
Canonical SPDI:: NC_000023.11:47637851:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.47637852C>T, NC_000023.10:g.47497251C>T, NG_009222.1:g.17753G>A, NM_005229.4:c.985G>A, NM_001114123.3:c.985G>A, NM_001114123.2:c.985G>A, NP_005220.2:p.Gly329Ser, NP_001107595.1:p.Gly329Ser

Select item 148199904913.

rs1481999049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:47637109 (GRCh38)
X:47496508 (GRCh37)
Canonical SPDI:: NC_000023.11:47637108:C:G,NC_000023.11:47637108:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.47637109C>G, NC_000023.11:g.47637109C>T, NC_000023.10:g.47496508C>G, NC_000023.10:g.47496508C>T, NG_009222.1:g.18496G>C, NG_009222.1:g.18496G>A, NM_005229.4:c.1092G>C, NM_005229.4:c.1092G>A, NM_001114123.3:c.1092G>C, NM_001114123.3:c.1092G>A, NM_001114123.2:c.1092G>C, NM_001114123.2:c.1092G>A

Select item 148053224514.

rs1480532245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47635554 (GRCh38)
X:47494953 (GRCh37)
Canonical SPDI:: NC_000023.11:47635553:T:C
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.47635554T>C, NC_000023.10:g.47494953T>C, NG_009222.1:g.20051A>G, NM_005229.4:c.*1275A>G, NM_001114123.3:c.*1275A>G, NM_001114123.2:c.*1275A>G, NM_001257168.1:c.*1396A>G

Select item 147962356415.

rs1479623564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47635912 (GRCh38)
X:47495311 (GRCh37)
Canonical SPDI:: NC_000023.11:47635911:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47635912C>T, NC_000023.10:g.47495311C>T, NG_009222.1:g.19693G>A, NM_005229.4:c.*917G>A, NM_001114123.3:c.*917G>A, NM_001114123.2:c.*917G>A, NM_001257168.1:c.*1038G>A

Select item 147936840216.

rs1479368402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47636574 (GRCh38)
X:47495973 (GRCh37)
Canonical SPDI:: NC_000023.11:47636573:T:C
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47636574T>C, NC_000023.10:g.47495973T>C, NG_009222.1:g.19031A>G, NM_005229.4:c.*255A>G, NM_001114123.3:c.*255A>G, NM_001114123.2:c.*255A>G, NM_001257168.1:c.*376A>G

Select item 147863912017.

rs1478639120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47636822 (GRCh38)
X:47496221 (GRCh37)
Canonical SPDI:: NC_000023.11:47636821:G:A
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47636822G>A, NC_000023.10:g.47496221G>A, NG_009222.1:g.18783C>T, NM_005229.4:c.*7C>T, NM_001114123.3:c.*7C>T, NM_001114123.2:c.*7C>T, NM_001257168.1:c.*128C>T

Select item 147614944818.

rs1476149448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47636097 (GRCh38)
X:47495496 (GRCh37)
Canonical SPDI:: NC_000023.11:47636096:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.47636097C>T, NC_000023.10:g.47495496C>T, NG_009222.1:g.19508G>A, NM_005229.4:c.*732G>A, NM_001114123.3:c.*732G>A, NM_001114123.2:c.*732G>A, NM_001257168.1:c.*853G>A

Select item 147516830519.

rs1475168305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47635578 (GRCh38)
X:47494977 (GRCh37)
Canonical SPDI:: NC_000023.11:47635577:A:G
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.47635578A>G, NC_000023.10:g.47494977A>G, NG_009222.1:g.20027T>C, NM_005229.4:c.*1251T>C, NM_001114123.3:c.*1251T>C, NM_001114123.2:c.*1251T>C, NM_001257168.1:c.*1372T>C

Select item 147391977120.

rs1473919771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47636888 (GRCh38)
X:47496287 (GRCh37)
Canonical SPDI:: NC_000023.11:47636887:T:C
Gene:: ELK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.47636888T>C, NC_000023.10:g.47496287T>C, NG_009222.1:g.18717A>G, NM_005229.4:c.1228A>G, NM_001114123.3:c.1228A>G, NM_001114123.2:c.1228A>G, NM_001257168.1:c.*62A>G, NP_005220.2:p.Ile410Val, NP_001107595.1:p.Ile410Val

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