SNP Links for Nucleotide (Select 216548137) - SNP

Links from Nucleotide

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Select item 14914582621.

rs1491458262 has merged into rs3838530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 2:55876766 (GRCh38)
2:56103901 (GRCh37)
Canonical SPDI:: NC_000002.12:55876756:TATATATATATATAT:TATATATAT,NC_000002.12:55876756:TATATATATATATAT:TATATATATAT,NC_000002.12:55876756:TATATATATATATAT:TATATATATATAT,NC_000002.12:55876756:TATATATATATATAT:TATATATATATATATAT,NC_000002.12:55876756:TATATATATATATAT:TATATATATATATATATAT,NC_000002.12:55876756:TATATATATATATAT:TATATATATATATATATATAT
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TATATA=0.000004/1 (TOPMED)
TA=0.02/12 (NorthernSweden)
TA=0.038738/194 (1000Genomes)
TA=0.068158/1142 (TOMMO)
HGVS:: NC_000002.12:g.55876758AT[4], NC_000002.12:g.55876758AT[5], NC_000002.12:g.55876758AT[6], NC_000002.12:g.55876758AT[8], NC_000002.12:g.55876758AT[9], NC_000002.12:g.55876758AT[10], NC_000002.11:g.56103893AT[4], NC_000002.11:g.56103893AT[5], NC_000002.11:g.56103893AT[6], NC_000002.11:g.56103893AT[8], NC_000002.11:g.56103893AT[9], NC_000002.11:g.56103893AT[10], NG_009098.1:g.52028TA[4], NG_009098.1:g.52028TA[5], NG_009098.1:g.52028TA[6], NG_009098.1:g.52028TA[8], NG_009098.1:g.52028TA[9], NG_009098.1:g.52028TA[10]

Select item 14912953262.

rs1491295326 has merged into rs576215544 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:55916116 (GRCh38)
2:56143251 (GRCh37)
Canonical SPDI:: NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:55916107:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.01342/8 (NorthernSweden)
HGVS:: NC_000002.12:g.55916116_55916127del, NC_000002.12:g.55916117_55916127del, NC_000002.12:g.55916120_55916127del, NC_000002.12:g.55916124_55916127del, NC_000002.12:g.55916125_55916127del, NC_000002.12:g.55916126_55916127del, NC_000002.12:g.55916127del, NC_000002.12:g.55916127dup, NC_000002.12:g.55916126_55916127dup, NC_000002.12:g.55916125_55916127dup, NC_000002.12:g.55916124_55916127dup, NC_000002.11:g.56143251_56143262del, NC_000002.11:g.56143252_56143262del, NC_000002.11:g.56143255_56143262del, NC_000002.11:g.56143259_56143262del, NC_000002.11:g.56143260_56143262del, NC_000002.11:g.56143261_56143262del, NC_000002.11:g.56143262del, NC_000002.11:g.56143262dup, NC_000002.11:g.56143261_56143262dup, NC_000002.11:g.56143260_56143262dup, NC_000002.11:g.56143259_56143262dup, NG_009098.1:g.12679_12690del, NG_009098.1:g.12680_12690del, NG_009098.1:g.12683_12690del, NG_009098.1:g.12687_12690del, NG_009098.1:g.12688_12690del, NG_009098.1:g.12689_12690del, NG_009098.1:g.12690del, NG_009098.1:g.12690dup, NG_009098.1:g.12689_12690dup, NG_009098.1:g.12688_12690dup, NG_009098.1:g.12687_12690dup

Select item 14910835013.

rs1491083501 has merged into rs10675516 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 2:55900675 (GRCh38)
2:56127810 (GRCh37)
Canonical SPDI:: NC_000002.12:55900669:TCTCTCT:TCTCT,NC_000002.12:55900669:TCTCTCT:TCTCTCTCT
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCT=0.333121/2094 (ALFA)
-=0.000015/4 (TOPMED)
-=0.074782/137 (Korea1K)
-=0.087904/1473 (TOMMO)
-=0.279669/1401 (1000Genomes)
-=0.4499/449 (GoNL)
TC=0.45/18 (GENOME_DK)
-=0.452776/1745 (ALSPAC)
TC=0.46942/2103 (Estonian)
-=0.469525/1741 (TWINSUK)
-=0.486667/292 (NorthernSweden)
HGVS:: NC_000002.12:g.55900671CT[2], NC_000002.12:g.55900671CT[4], NC_000002.11:g.56127806CT[2], NC_000002.11:g.56127806CT[4], NG_009098.1:g.28123GA[2], NG_009098.1:g.28123GA[4]

Select item 14910344114.

rs1491034411 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:55876754 (GRCh38)
2:56103890 (GRCh37)
Canonical SPDI:: NC_000002.12:55876754:T:TAT
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: TAT=0.00093/11 (ALFA)
HGVS:: NC_000002.12:g.55876755_55876756insAT, NC_000002.11:g.56103890_56103891insAT, NG_009098.1:g.52043_52044insTA

Select item 14910333655.

rs1491033365 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:55904985 (GRCh38)
2:56132120 (GRCh37)
Canonical SPDI:: NC_000002.12:55904983:TCT:T
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00031/8 (GnomAD)
-=0.00333/2 (NorthernSweden)
HGVS:: NC_000002.12:g.55904985_55904986del, NC_000002.11:g.56132120_56132121del, NG_009098.1:g.23813_23814del

Select item 14909686436.

rs1490968643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:55889797 (GRCh38)
2:56116932 (GRCh37)
Canonical SPDI:: NC_000002.12:55889796:T:C
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.55889797T>C, NC_000002.11:g.56116932T>C, NG_009098.1:g.39001A>G

Select item 14909144187.

rs1490914418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:55906603 (GRCh38)
2:56133738 (GRCh37)
Canonical SPDI:: NC_000002.12:55906602:T:G
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.55906603T>G, NC_000002.11:g.56133738T>G, NG_009098.1:g.22195A>C

Select item 14909043278.

rs1490904327 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:55919489 (GRCh38)
2:56146624 (GRCh37)
Canonical SPDI:: NC_000002.12:55919488:A:
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.55919489del, NC_000002.11:g.56146624del, NG_009098.1:g.9309del

Select item 14908764889.

rs1490876488 has merged into rs1326082501 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 2:55922302 (GRCh38)
2:56149437 (GRCh37)
Canonical SPDI:: NC_000002.12:55922301:TTTTTTT:TTTTTT,NC_000002.12:55922301:TTTTTTT:TTTTTTTT
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.55922308del, NC_000002.12:g.55922308dup, NC_000002.11:g.56149443del, NC_000002.11:g.56149443dup, NG_009098.1:g.6496del, NG_009098.1:g.6496dup

Select item 149087402010.

rs1490874020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:55922430 (GRCh38)
2:56149565 (GRCh37)
Canonical SPDI:: NC_000002.12:55922429:G:T
Gene:: EFEMP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.55922430G>T, NC_000002.11:g.56149565G>T, NG_009098.1:g.6368C>A, NM_001039348.3:c.11C>A, NM_001039348.2:c.11C>A, NM_001039349.3:c.11C>A, NM_001039349.2:c.11C>A, XM_005264205.5:c.11C>A, XM_005264205.4:c.401C>A, XM_005264205.3:c.401C>A, XM_005264205.2:c.401C>A, XM_005264205.1:c.401C>A, NM_004105.3:c.11C>A, XM_017003586.3:c.11C>A, XM_017003586.2:c.11C>A, XM_017003586.1:c.11C>A, NM_004105.2:c.11C>A, NP_001034437.1:p.Ala4Asp, NP_001034438.1:p.Ala4Asp, XP_005264262.2:p.Ala4Asp, XP_016859075.1:p.Ala4Asp

Select item 149085864211.

rs1490858642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55923446 (GRCh38)
2:56150581 (GRCh37)
Canonical SPDI:: NC_000002.12:55923445:G:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.55923446G>A, NC_000002.11:g.56150581G>A, NG_009098.1:g.5352C>T

Select item 149075239112.

rs1490752391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:55882303 (GRCh38)
2:56109438 (GRCh37)
Canonical SPDI:: NC_000002.12:55882302:C:T
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.55882303C>T, NC_000002.11:g.56109438C>T, NG_009098.1:g.46495G>A

Select item 149070423413.

rs1490704234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:55901197 (GRCh38)
2:56128332 (GRCh37)
Canonical SPDI:: NC_000002.12:55901196:A:G
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.55901197A>G, NC_000002.11:g.56128332A>G, NG_009098.1:g.27601T>C

Select item 149070357214.

rs1490703572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:55899103 (GRCh38)
2:56126238 (GRCh37)
Canonical SPDI:: NC_000002.12:55899102:A:G
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.55899103A>G, NC_000002.11:g.56126238A>G, NG_009098.1:g.29695T>C

Select item 149069072915.

rs1490690729 [Homo sapiens]

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

Select item 149065929416.

rs1490659294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55867705 (GRCh38)
2:56094840 (GRCh37)
Canonical SPDI:: NC_000002.12:55867704:G:A
Gene:: EFEMP1 (Varview), LOC112268416 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.55867705G>A, NC_000002.11:g.56094840G>A, NG_009098.1:g.61093C>T

Select item 149062392817.

rs1490623928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:55881888 (GRCh38)
2:56109023 (GRCh37)
Canonical SPDI:: NC_000002.12:55881887:G:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.55881888G>A, NC_000002.11:g.56109023G>A, NG_009098.1:g.46910C>T

Select item 149061181918.

rs1490611819 [Homo sapiens]

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

Select item 149059871519.

rs1490598715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:55880868 (GRCh38)
2:56108003 (GRCh37)
Canonical SPDI:: NC_000002.12:55880867:C:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.55880868C>A, NC_000002.11:g.56108003C>A, NG_009098.1:g.47930G>T

Select item 149045412120.

rs1490454121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:55915111 (GRCh38)
2:56142246 (GRCh37)
Canonical SPDI:: NC_000002.12:55915110:T:A
Gene:: EFEMP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.55915111T>A, NC_000002.11:g.56142246T>A, NG_009098.1:g.13687A>T

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