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Select item 14914713831.

rs1491471383 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: X:47642589 (GRCh38)
X:47501989 (GRCh37)
Canonical SPDI:: NC_000023.11:47642589::A
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47642589_47642590insA, NC_000023.10:g.47501988_47501989insA, NG_009222.1:g.13015_13016insT

Select item 14912538342.

rs1491253834 has merged into rs765850709 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: X:47642599 (GRCh38)
X:47501998 (GRCh37)
Canonical SPDI:: NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:47642588:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.47642599_47642601del, NC_000023.11:g.47642600_47642601del, NC_000023.11:g.47642601del, NC_000023.11:g.47642601dup, NC_000023.11:g.47642600_47642601dup, NC_000023.11:g.47642599_47642601dup, NC_000023.11:g.47642597_47642601dup, NC_000023.11:g.47642596_47642601dup, NC_000023.11:g.47642594_47642601dup, NC_000023.10:g.47501998_47502000del, NC_000023.10:g.47501999_47502000del, NC_000023.10:g.47502000del, NC_000023.10:g.47502000dup, NC_000023.10:g.47501999_47502000dup, NC_000023.10:g.47501998_47502000dup, NC_000023.10:g.47501996_47502000dup, NC_000023.10:g.47501995_47502000dup, NC_000023.10:g.47501993_47502000dup, NG_009222.1:g.13014_13016del, NG_009222.1:g.13015_13016del, NG_009222.1:g.13016del, NG_009222.1:g.13016dup, NG_009222.1:g.13015_13016dup, NG_009222.1:g.13014_13016dup, NG_009222.1:g.13012_13016dup, NG_009222.1:g.13011_13016dup, NG_009222.1:g.13009_13016dup

Select item 14908885643.

rs1490888564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47638254 (GRCh38)
X:47497653 (GRCh37)
Canonical SPDI:: NC_000023.11:47638253:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/6 (GnomAD)
T=0.000072/19 (TOPMED)
HGVS:: NC_000023.11:g.47638254C>T, NC_000023.10:g.47497653C>T, NG_009222.1:g.17351G>A

Select item 14907639544.

rs1490763954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47644403 (GRCh38)
X:47503802 (GRCh37)
Canonical SPDI:: NC_000023.11:47644402:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.47644403C>T, NC_000023.10:g.47503802C>T, NG_009222.1:g.11202G>A

Select item 14907115735.

rs1490711573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47642706 (GRCh38)
X:47502105 (GRCh37)
Canonical SPDI:: NC_000023.11:47642705:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47642706C>T, NC_000023.10:g.47502105C>T, NG_009222.1:g.12899G>A

Select item 14906172716.

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 14905984347.

rs1490598434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47644964 (GRCh38)
X:47504363 (GRCh37)
Canonical SPDI:: NC_000023.11:47644963:G:A
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47644964G>A, NC_000023.10:g.47504363G>A, NG_009222.1:g.10641C>T

Select item 14902485668.

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 14902221509.

rs1490222150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47641918 (GRCh38)
X:47501317 (GRCh37)
Canonical SPDI:: NC_000023.11:47641917:T:C
Gene:: ELK1 (Varview)
Functional Consequence:: intron_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.47641918T>C, NC_000023.10:g.47501317T>C, NG_009222.1:g.13687A>G

Select item 149007012710.

rs1490070127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47651070 (GRCh38)
X:47510469 (GRCh37)
Canonical SPDI:: NC_000023.11:47651069:T:C
Gene:: ELK1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.47651070T>C, NC_000023.10:g.47510469T>C, NG_009222.1:g.4535A>G, NG_070969.1:g.1145T>C

Select item 148973173111.

rs1489731731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47645771 (GRCh38)
X:47505170 (GRCh37)
Canonical SPDI:: NC_000023.11:47645770:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0004/2 (ALFA)
HGVS:: NC_000023.11:g.47645771C>T, NC_000023.10:g.47505170C>T, NG_009222.1:g.9834G>A

Select item 148936948112.

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 148935964313.

rs1489359643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:47645779 (GRCh38)
X:47505178 (GRCh37)
Canonical SPDI:: NC_000023.11:47645778:A:G
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.47645779A>G, NC_000023.10:g.47505178A>G, NG_009222.1:g.9826T>C

Select item 148915347314.

rs1489153473 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGT>- [Show Flanks]
Chromosome:: X:47640952 (GRCh38)
X:47500351 (GRCh37)
Canonical SPDI:: NC_000023.11:47640949:GTTGT:GT
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.47640952_47640954del, NC_000023.10:g.47500351_47500353del, NG_009222.1:g.14653_14655del

Select item 148900840615.

rs1489008406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:47647146 (GRCh38)
X:47506545 (GRCh37)
Canonical SPDI:: NC_000023.11:47647145:T:C
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.47647146T>C, NC_000023.10:g.47506545T>C, NG_009222.1:g.8459A>G

Select item 148863951716.

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 148850598417.

rs1488505984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:47643848 (GRCh38)
X:47503247 (GRCh37)
Canonical SPDI:: NC_000023.11:47643847:G:C
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47643848G>C, NC_000023.10:g.47503247G>C, NG_009222.1:g.11757C>G

Select item 148841799218.

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 148812910719.

rs1488129107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:47637252 (GRCh38)
X:47496651 (GRCh37)
Canonical SPDI:: NC_000023.11:47637251:G:A
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.47637252G>A, NC_000023.10:g.47496651G>A, NG_009222.1:g.18353C>T

Select item 148740655220.

rs1487406552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:47641774 (GRCh38)
X:47501173 (GRCh37)
Canonical SPDI:: NC_000023.11:47641773:C:T
Gene:: ELK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.47641774C>T, NC_000023.10:g.47501173C>T, NG_009222.1:g.13831G>A

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