SNP Links for Nucleotide (Select 1027250657) - SNP

Links from Nucleotide

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Select item 14915061111.

rs1491506111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:16439845 (GRCh38)
1:16766341 (GRCh37)
Canonical SPDI:: NC_000001.11:16439845:C:CC
Gene:: NECAP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16439846dup, NC_000001.10:g.16766341dup, NG_047165.1:g.4175dup, NW_025791756.1:g.244110dup

Select item 14913641642.

rs1491364164 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:16439846 (GRCh38)
1:16766341 (GRCh37)
Canonical SPDI:: NC_000001.11:16439844:TCT:T
Gene:: NECAP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
-=0.000058/7 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.16439846_16439847del, NC_000001.10:g.16766341_16766342del, NG_047165.1:g.4175_4176del

Select item 14913247083.

rs1491324708 has merged into rs56863489 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:16457716 (GRCh38)
1:16784211 (GRCh37)
Canonical SPDI:: NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16457707:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.16457716_16457729del, NC_000001.11:g.16457719_16457729del, NC_000001.11:g.16457720_16457729del, NC_000001.11:g.16457722_16457729del, NC_000001.11:g.16457723_16457729del, NC_000001.11:g.16457725_16457729del, NC_000001.11:g.16457726_16457729del, NC_000001.11:g.16457727_16457729del, NC_000001.11:g.16457728_16457729del, NC_000001.11:g.16457729del, NC_000001.11:g.16457729dup, NC_000001.11:g.16457728_16457729dup, NC_000001.11:g.16457727_16457729dup, NC_000001.11:g.16457726_16457729dup, NC_000001.11:g.16457725_16457729dup, NC_000001.11:g.16457724_16457729dup, NC_000001.11:g.16457723_16457729dup, NC_000001.11:g.16457722_16457729dup, NC_000001.11:g.16457721_16457729dup, NC_000001.11:g.16457720_16457729dup, NC_000001.11:g.16457712_16457729dup, NC_000001.11:g.16457711_16457729dup, NC_000001.11:g.16457729_16457730insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.16457729_16457730insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16784211_16784224del, NC_000001.10:g.16784214_16784224del, NC_000001.10:g.16784215_16784224del, NC_000001.10:g.16784217_16784224del, NC_000001.10:g.16784218_16784224del, NC_000001.10:g.16784220_16784224del, NC_000001.10:g.16784221_16784224del, NC_000001.10:g.16784222_16784224del, NC_000001.10:g.16784223_16784224del, NC_000001.10:g.16784224del, NC_000001.10:g.16784224dup, NC_000001.10:g.16784223_16784224dup, NC_000001.10:g.16784222_16784224dup, NC_000001.10:g.16784221_16784224dup, NC_000001.10:g.16784220_16784224dup, NC_000001.10:g.16784219_16784224dup, NC_000001.10:g.16784218_16784224dup, NC_000001.10:g.16784217_16784224dup, NC_000001.10:g.16784216_16784224dup, NC_000001.10:g.16784215_16784224dup, NC_000001.10:g.16784207_16784224dup, NC_000001.10:g.16784206_16784224dup, NC_000001.10:g.16784224_16784225insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16784224_16784225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047165.1:g.22045_22058del, NG_047165.1:g.22048_22058del, NG_047165.1:g.22049_22058del, NG_047165.1:g.22051_22058del, NG_047165.1:g.22052_22058del, NG_047165.1:g.22054_22058del, NG_047165.1:g.22055_22058del, NG_047165.1:g.22056_22058del, NG_047165.1:g.22057_22058del, NG_047165.1:g.22058del, NG_047165.1:g.22058dup, NG_047165.1:g.22057_22058dup, NG_047165.1:g.22056_22058dup, NG_047165.1:g.22055_22058dup, NG_047165.1:g.22054_22058dup, NG_047165.1:g.22053_22058dup, NG_047165.1:g.22052_22058dup, NG_047165.1:g.22051_22058dup, NG_047165.1:g.22050_22058dup, NG_047165.1:g.22049_22058dup, NG_047165.1:g.22041_22058dup, NG_047165.1:g.22040_22058dup, NG_047165.1:g.22058_22059insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047165.1:g.22058_22059insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791756.1:g.261981_261994del, NW_025791756.1:g.261984_261994del, NW_025791756.1:g.261985_261994del, NW_025791756.1:g.261987_261994del, NW_025791756.1:g.261988_261994del, NW_025791756.1:g.261990_261994del, NW_025791756.1:g.261991_261994del, NW_025791756.1:g.261992_261994del, NW_025791756.1:g.261993_261994del, NW_025791756.1:g.261994del, NW_025791756.1:g.261994dup, NW_025791756.1:g.261993_261994dup, NW_025791756.1:g.261992_261994dup, NW_025791756.1:g.261991_261994dup, NW_025791756.1:g.261990_261994dup, NW_025791756.1:g.261989_261994dup, NW_025791756.1:g.261988_261994dup, NW_025791756.1:g.261987_261994dup, NW_025791756.1:g.261986_261994dup, NW_025791756.1:g.261985_261994dup, NW_025791756.1:g.261977_261994dup, NW_025791756.1:g.261976_261994dup, NW_025791756.1:g.261994_261995insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791756.1:g.261994_261995insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911979064.

rs1491197906 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:16457708 (GRCh38)
1:16784204 (GRCh37)
Canonical SPDI:: NC_000001.11:16457708:T:TGT
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00002/2 (GnomAD)
HGVS:: NC_000001.11:g.16457709_16457710insGT, NC_000001.10:g.16784204_16784205insGT, NG_047165.1:g.22038_22039insGT, NW_025791756.1:g.261974_261975insGT

Select item 14909349235.

rs1490934923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:16449621 (GRCh38)
1:16776116 (GRCh37)
Canonical SPDI:: NC_000001.11:16449620:T:C
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.16449621T>C, NC_000001.10:g.16776116T>C, NG_047165.1:g.13950T>C, NW_025791756.1:g.253886T>C

Select item 14907294266.

rs1490729426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:16457467 (GRCh38)
1:16783962 (GRCh37)
Canonical SPDI:: NC_000001.11:16457466:A:C
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.16457467A>C, NC_000001.10:g.16783962A>C, NG_047165.1:g.21796A>C, NW_025791756.1:g.261732A>C

Select item 14906768507.

rs1490676850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:16451158 (GRCh38)
1:16777653 (GRCh37)
Canonical SPDI:: NC_000001.11:16451157:T:C
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.16451158T>C, NC_000001.10:g.16777653T>C, NG_047165.1:g.15487T>C, NW_025791756.1:g.255423T>C

Select item 14905524008.

rs1490552400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:16456944 (GRCh38)
1:16783439 (GRCh37)
Canonical SPDI:: NC_000001.11:16456943:T:G
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16456944T>G, NC_000001.10:g.16783439T>G, NG_047165.1:g.21273T>G, NW_025791756.1:g.261209T>G

Select item 14904777539.

rs1490477753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:16442205 (GRCh38)
1:16768700 (GRCh37)
Canonical SPDI:: NC_000001.11:16442204:C:G,NC_000001.11:16442204:C:T
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.16442205C>G, NC_000001.11:g.16442205C>T, NC_000001.10:g.16768700C>G, NC_000001.10:g.16768700C>T, NG_047165.1:g.6534C>G, NG_047165.1:g.6534C>T, NW_025791756.1:g.246470C>G, NW_025791756.1:g.246470C>T

Select item 149033104110.

rs1490331041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:16443740 (GRCh38)
1:16770235 (GRCh37)
Canonical SPDI:: NC_000001.11:16443739:G:A,NC_000001.11:16443739:G:C
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16443740G>A, NC_000001.11:g.16443740G>C, NC_000001.10:g.16770235G>A, NC_000001.10:g.16770235G>C, NG_047165.1:g.8069G>A, NG_047165.1:g.8069G>C, NW_025791756.1:g.248005G>A, NW_025791756.1:g.248005G>C

Select item 149023682411.

rs1490236824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:16460443 (GRCh38)
1:16786938 (GRCh37)
Canonical SPDI:: NC_000001.11:16460442:T:G
Gene:: NECAP2 (Varview), LINC01772 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.16460443T>G, NC_000001.10:g.16786938T>G, NG_047165.1:g.24772T>G, NW_025791756.1:g.264708T>G

Select item 149013211312.

rs1490132113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:16450882 (GRCh38)
1:16777377 (GRCh37)
Canonical SPDI:: NC_000001.11:16450881:A:G
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00164/3 (Korea1K)
HGVS:: NC_000001.11:g.16450882A>G, NC_000001.10:g.16777377A>G, NG_047165.1:g.15211A>G, NW_025791756.1:g.255147A>G

Select item 148995429313.

rs1489954293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:16450343 (GRCh38)
1:16776838 (GRCh37)
Canonical SPDI:: NC_000001.11:16450342:A:G
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.16450343A>G, NC_000001.10:g.16776838A>G, NG_047165.1:g.14672A>G, NW_025791756.1:g.254608A>G

Select item 148979630514.

rs1489796305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:16459500 (GRCh38)
1:16785995 (GRCh37)
Canonical SPDI:: NC_000001.11:16459499:A:G
Gene:: NECAP2 (Varview), LINC01772 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.16459500A>G, NC_000001.10:g.16785995A>G, NG_047165.1:g.23829A>G, NM_018090.5:c.*610A>G, NM_018090.4:c.*610A>G, NM_001145277.2:c.*504A>G, NM_001145277.1:c.*504A>G, NM_001145278.2:c.*610A>G, NM_001145278.1:c.*610A>G, NW_025791756.1:g.263765A>G, XM_047424713.1:c.*504A>G

Select item 148969873315.

rs1489698733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:16458148 (GRCh38)
1:16784643 (GRCh37)
Canonical SPDI:: NC_000001.11:16458147:C:T
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.16458148C>T, NC_000001.10:g.16784643C>T, NG_047165.1:g.22477C>T, NW_025791756.1:g.262413C>T

Select item 148967246516.

rs1489672465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:16443629 (GRCh38)
1:16770124 (GRCh37)
Canonical SPDI:: NC_000001.11:16443628:T:G
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.16443629T>G, NC_000001.10:g.16770124T>G, NG_047165.1:g.7958T>G, NW_025791756.1:g.247894T>G

Select item 148963930717.

rs1489639307 has merged into rs59926630 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:16436399 (GRCh38)
1:16762894 (GRCh37)
Canonical SPDI:: NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16436386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPATA21 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.02091/12 (NorthernSweden)
HGVS:: NC_000001.11:g.16436399_16436404del, NC_000001.11:g.16436402_16436404del, NC_000001.11:g.16436403_16436404del, NC_000001.11:g.16436404del, NC_000001.11:g.16436404dup, NC_000001.11:g.16436403_16436404dup, NC_000001.11:g.16436402_16436404dup, NC_000001.11:g.16436401_16436404dup, NC_000001.11:g.16436400_16436404dup, NC_000001.10:g.16762894_16762899del, NC_000001.10:g.16762897_16762899del, NC_000001.10:g.16762898_16762899del, NC_000001.10:g.16762899del, NC_000001.10:g.16762899dup, NC_000001.10:g.16762898_16762899dup, NC_000001.10:g.16762897_16762899dup, NC_000001.10:g.16762896_16762899dup, NC_000001.10:g.16762895_16762899dup, NG_047165.1:g.728_733del, NG_047165.1:g.731_733del, NG_047165.1:g.732_733del, NG_047165.1:g.733del, NG_047165.1:g.733dup, NG_047165.1:g.732_733dup, NG_047165.1:g.731_733dup, NG_047165.1:g.730_733dup, NG_047165.1:g.729_733dup, NW_025791756.1:g.240662_240667del, NW_025791756.1:g.240665_240667del, NW_025791756.1:g.240666_240667del, NW_025791756.1:g.240667del, NW_025791756.1:g.240667dup, NW_025791756.1:g.240666_240667dup, NW_025791756.1:g.240665_240667dup, NW_025791756.1:g.240664_240667dup, NW_025791756.1:g.240663_240667dup

Select item 148955278318.

rs1489552783 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:16461901 (GRCh38)
1:16788396 (GRCh37)
Canonical SPDI:: NC_000001.11:16461900:A:C
Gene:: LINC01772 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.16461901A>C, NC_000001.10:g.16788396A>C, NG_047165.1:g.26230A>C, NW_025791756.1:g.266166A>C, NR_147210.1:n.954A>C, NR_147211.1:n.95A>C

Select item 148953595719.

rs1489535957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:16440866 (GRCh38)
1:16767361 (GRCh37)
Canonical SPDI:: NC_000001.11:16440865:C:T
Gene:: NECAP2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.16440866C>T, NC_000001.10:g.16767361C>T, NG_047165.1:g.5195C>T, NW_025791756.1:g.245131C>T

Select item 148950635720.

rs1489506357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:16439992 (GRCh38)
1:16766487 (GRCh37)
Canonical SPDI:: NC_000001.11:16439991:C:G
Gene:: NECAP2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.16439992C>G, NC_000001.10:g.16766487C>G, NG_047165.1:g.4321C>G, NW_025791756.1:g.244257C>G

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