SNP Links for Gene (Select 255520) - SNP

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Select item 14912959091.

rs1491295909 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:140546061 (GRCh38)
4:141467215 (GRCh37)
Canonical SPDI:: NC_000004.12:140546058:CACA:CA
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140546059CA[1], NC_000004.11:g.141467213CA[1], NG_027825.1:g.26902CA[1], XM_011531818.3:c.*2230CA[1], XM_011531818.2:c.*2230CA[1], XM_011531818.1:c.*2230CA[1], XR_001741193.2:n.3538CA[1], XR_001741193.1:n.3284CA[1], XM_047449980.1:c.*2230CA[1]

Select item 14911776122.

rs1491177612 has merged into rs1295853091 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 4:140525360 (GRCh38)
4:141446514 (GRCh37)
Canonical SPDI:: NC_000004.12:140525356:TTTTT:TTT,NC_000004.12:140525356:TTTTT:TTTT
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140525360_140525361del, NC_000004.12:g.140525361del, NC_000004.11:g.141446514_141446515del, NC_000004.11:g.141446515del, NG_027825.1:g.6203_6204del, NG_027825.1:g.6204del

Select item 14911256233.

rs1491125623 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTCC [Show Flanks]
Chromosome:: 4:140535136 (GRCh38)
4:141456291 (GRCh37)
Canonical SPDI:: NC_000004.12:140535136::C,NC_000004.12:140535136::CTCC
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCC=0./0 (ALFA)
C=0.09532/57 (NorthernSweden)
C=0.1145/1907 (TOMMO)
C=0.11923/217 (Korea1K)
C=0.15/6 (GENOME_DK)
C=0.15048/10713 (GnomAD)
HGVS:: NC_000004.12:g.140535136_140535137insC, NC_000004.12:g.140535136_140535137insCTCC, NC_000004.11:g.141456290_141456291insC, NC_000004.11:g.141456290_141456291insCTCC, NG_027825.1:g.15979_15980insC, NG_027825.1:g.15979_15980insCTCC

Select item 14910161964.

rs1491016196 has merged into rs10647929 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 4:140549357 (GRCh38)
4:141470511 (GRCh37)
Canonical SPDI:: NC_000004.12:140549352:ATATAT:ATAT,NC_000004.12:140549352:ATATAT:ATATATAT,NC_000004.12:140549352:ATATAT:ATATATATAT
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0.0004/2 (ALFA)
AT=0.03106/31 (GoNL)
AT=0.1/4 (GENOME_DK)
AT=0.10167/61 (NorthernSweden)
AT=0.12061/604 (1000Genomes)
AT=0.14589/653 (Estonian)
AT=0.69427/11636 (TOMMO)
HGVS:: NC_000004.12:g.140549353AT[2], NC_000004.12:g.140549353AT[4], NC_000004.12:g.140549353AT[5], NC_000004.11:g.141470507AT[2], NC_000004.11:g.141470507AT[4], NC_000004.11:g.141470507AT[5], NG_027825.1:g.30196AT[2], NG_027825.1:g.30196AT[4], NG_027825.1:g.30196AT[5]

Select item 14906487075.

rs1490648707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:140540961 (GRCh38)
4:141462115 (GRCh37)
Canonical SPDI:: NC_000004.12:140540959:TTT:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.140540961_140540962del, NC_000004.11:g.141462115_141462116del, NG_027825.1:g.21804_21805del

Select item 14905328816.

rs1490532881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140525712 (GRCh38)
4:141446866 (GRCh37)
Canonical SPDI:: NC_000004.12:140525711:C:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000212/4 (TOMMO)
T=0.000684/2 (KOREAN)
T=0.002183/4 (Korea1K)
HGVS:: NC_000004.12:g.140525712C>T, NC_000004.11:g.141446866C>T, NG_027825.1:g.6555C>T

Select item 14904494507.

rs1490449450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:140533222 (GRCh38)
4:141454376 (GRCh37)
Canonical SPDI:: NC_000004.12:140533221:A:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.140533222A>T, NC_000004.11:g.141454376A>T, NG_027825.1:g.14065A>T

Select item 14903262258.

rs1490326225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140545717 (GRCh38)
4:141466871 (GRCh37)
Canonical SPDI:: NC_000004.12:140545716:A:G
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140545717A>G, NC_000004.11:g.141466871A>G, NG_027825.1:g.26560A>G, XM_011531818.3:c.*1888A>G, XM_011531818.2:c.*1888A>G, XM_011531818.1:c.*1888A>G, XR_001741193.2:n.3196A>G, XR_001741193.1:n.2942A>G, XM_047449980.1:c.*1888A>G

Select item 14903245159.

rs1490324515 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:140541893 (GRCh38)
4:141463047 (GRCh37)
Canonical SPDI:: NC_000004.12:140541892:A:G,NC_000004.12:140541892:A:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.140541893A>G, NC_000004.12:g.140541893A>T, NC_000004.11:g.141463047A>G, NC_000004.11:g.141463047A>T, NG_027825.1:g.22736A>G, NG_027825.1:g.22736A>T

Select item 149026602110.

rs1490266021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140542571 (GRCh38)
4:141463725 (GRCh37)
Canonical SPDI:: NC_000004.12:140542570:T:C
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140542571T>C, NC_000004.11:g.141463725T>C, NG_027825.1:g.23414T>C

Select item 148998042511.

rs1489980425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140533601 (GRCh38)
4:141454755 (GRCh37)
Canonical SPDI:: NC_000004.12:140533600:C:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_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_000004.12:g.140533601C>T, NC_000004.11:g.141454755C>T, NG_027825.1:g.14444C>T

Select item 148989601012.

rs1489896010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140551061 (GRCh38)
4:141472215 (GRCh37)
Canonical SPDI:: NC_000004.12:140551060:G:A
Gene:: ELMOD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000004.12:g.140551061G>A, NC_000004.11:g.141472215G>A, NG_027825.1:g.31904G>A, NM_153702.4:c.*686G>A, NM_153702.3:c.*686G>A, XM_005262885.4:c.*686G>A, XM_005262885.3:c.*686G>A, XM_005262885.2:c.*686G>A, XM_005262885.1:c.*686G>A, XM_011531819.3:c.*686G>A, XM_011531819.2:c.*686G>A, XM_011531819.1:c.*686G>A

Select item 148985050713.

rs1489850507 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAATCTGA [Show Flanks]
Chromosome:: 4:140544532 (GRCh38)
4:141465687 (GRCh37)
Canonical SPDI:: NC_000004.12:140544532:TGAAAATCTGA:TGAAAATCTGAAAATCTGA
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGAAAATCTGAAAATCTGA=0./0 (ALFA)
TGAAAATC=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140544536_140544543dup, NC_000004.11:g.141465690_141465697dup, NG_027825.1:g.25379_25386dup, XM_011531818.3:c.*707_*714dup, XM_011531818.2:c.*707_*714dup, XM_011531818.1:c.*707_*714dup, XR_001741193.2:n.2015_2022dup, XR_001741193.1:n.1761_1768dup, XM_047449980.1:c.*707_*714dup

Select item 148983447714.

rs1489834477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140546378 (GRCh38)
4:141467532 (GRCh37)
Canonical SPDI:: NC_000004.12:140546377:C:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140546378C>T, NC_000004.11:g.141467532C>T, NG_027825.1:g.27221C>T, XM_011531818.3:c.*2549C>T, XM_011531818.2:c.*2549C>T, XM_011531818.1:c.*2549C>T, XR_001741193.2:n.3857C>T, XR_001741193.1:n.3603C>T, XM_047449980.1:c.*2549C>T

Select item 148977950915.

rs1489779509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:140523769 (GRCh38)
4:141444923 (GRCh37)
Canonical SPDI:: NC_000004.12:140523768:G:A,NC_000004.12:140523768:G:C
Gene:: ELMOD2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.140523769G>A, NC_000004.12:g.140523769G>C, NC_000004.11:g.141444923G>A, NC_000004.11:g.141444923G>C, NG_027825.1:g.4612G>A, NG_027825.1:g.4612G>C

Select item 148973442716.

rs1489734427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140551761 (GRCh38)
4:141472915 (GRCh37)
Canonical SPDI:: NC_000004.12:140551760:T:C
Gene:: ELMOD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140551761T>C, NC_000004.11:g.141472915T>C, NG_027825.1:g.32604T>C, NM_153702.4:c.*1386T>C, NM_153702.3:c.*1386T>C, XM_005262885.4:c.*1386T>C, XM_005262885.3:c.*1386T>C, XM_005262885.2:c.*1386T>C, XM_005262885.1:c.*1386T>C, XM_011531819.3:c.*1386T>C, XM_011531819.1:c.*1386T>C

Select item 148972628017.

rs1489726280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140524393 (GRCh38)
4:141445547 (GRCh37)
Canonical SPDI:: NC_000004.12:140524392:G:A
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140524393G>A, NC_000004.11:g.141445547G>A, NG_027825.1:g.5236G>A, XM_005262885.4:c.-198G>A, XM_005262885.3:c.-198G>A, XM_011531818.3:c.-198G>A, XR_001741193.2:n.226G>A, XM_047449981.1:c.-198G>A

Select item 148954095118.

rs1489540951 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140539766 (GRCh38)
4:141460920 (GRCh37)
Canonical SPDI:: NC_000004.12:140539765:T:C
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_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_000004.12:g.140539766T>C, NC_000004.11:g.141460920T>C, NG_027825.1:g.20609T>C

Select item 148925145619.

rs1489251456 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:140531283 (GRCh38)
4:141452438 (GRCh37)
Canonical SPDI:: NC_000004.12:140531283:AAAAA:AAAAAA
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.140531288dup, NC_000004.11:g.141452442dup, NG_027825.1:g.12131dup

Select item 148918220120.

rs1489182201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:140546655 (GRCh38)
4:141467809 (GRCh37)
Canonical SPDI:: NC_000004.12:140546654:T:A
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.140546655T>A, NC_000004.11:g.141467809T>A, NG_027825.1:g.27498T>A, XM_011531818.3:c.*2826T>A, XM_011531818.2:c.*2826T>A, XM_011531818.1:c.*2826T>A, XR_001741193.2:n.4134T>A, XR_001741193.1:n.3880T>A, XM_047449980.1:c.*2826T>A

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