SNP Links for Gene (Select 400512) - SNP

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Select item 14914049131.

rs1491404913 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 16:27271550 (GRCh38)
16:27282872 (GRCh37)
Canonical SPDI:: NC_000016.10:27271550:G:GTG
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GT=0.00003/2 (GnomAD)
HGVS:: NC_000016.10:g.27271551_27271552insTG, NC_000016.9:g.27282872_27282873insTG

Select item 14913866862.

rs1491386686 has merged into rs377533344 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 16:27271575 (GRCh38)
16:27282896 (GRCh37)
Canonical SPDI:: NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000016.10:27271559:CACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
-=0.2567/952 (TWINSUK)
-=0.2667/1028 (ALSPAC)
HGVS:: NC_000016.10:g.27271561AC[7], NC_000016.10:g.27271561AC[8], NC_000016.10:g.27271561AC[9], NC_000016.10:g.27271561AC[10], NC_000016.10:g.27271561AC[11], NC_000016.10:g.27271561AC[12], NC_000016.10:g.27271561AC[14], NC_000016.10:g.27271561AC[15], NC_000016.10:g.27271561AC[16], NC_000016.10:g.27271561AC[17], NC_000016.10:g.27271561AC[18], NC_000016.10:g.27271561AC[19], NC_000016.10:g.27271561AC[20], NC_000016.10:g.27271561AC[21], NC_000016.10:g.27271561AC[22], NC_000016.9:g.27282882AC[7], NC_000016.9:g.27282882AC[8], NC_000016.9:g.27282882AC[9], NC_000016.9:g.27282882AC[10], NC_000016.9:g.27282882AC[11], NC_000016.9:g.27282882AC[12], NC_000016.9:g.27282882AC[14], NC_000016.9:g.27282882AC[15], NC_000016.9:g.27282882AC[16], NC_000016.9:g.27282882AC[17], NC_000016.9:g.27282882AC[18], NC_000016.9:g.27282882AC[19], NC_000016.9:g.27282882AC[20], NC_000016.9:g.27282882AC[21], NC_000016.9:g.27282882AC[22]

Select item 14913860713.

rs1491386071 has merged into rs1282604626 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 16:27276536 (GRCh38)
16:27287857 (GRCh37)
Canonical SPDI:: NC_000016.10:27276534:TTT:T,NC_000016.10:27276534:TTT:TTTT
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.27276536_27276537del, NC_000016.10:g.27276537dup, NC_000016.9:g.27287857_27287858del, NC_000016.9:g.27287858dup

Select item 14913689004.

rs1491368900 has merged into rs146988397 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC,GCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 16:27271559 (GRCh38)
16:27282880 (GRCh37)
Canonical SPDI:: NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGC,NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGC,NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGC,NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGC,NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGC,NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC,NC_000016.10:27271549:CGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCGCGC=0./0 (ALFA)
CGCGCG=0.0759/332 (Estonian)
CGCGCG=0.125/5 (GENOME_DK)
HGVS:: NC_000016.10:g.27271551GC[4], NC_000016.10:g.27271551GC[6], NC_000016.10:g.27271551GC[7], NC_000016.10:g.27271551GC[8], NC_000016.10:g.27271551GC[9], NC_000016.10:g.27271551GC[10], NC_000016.10:g.27271551GC[11], NC_000016.9:g.27282872GC[4], NC_000016.9:g.27282872GC[6], NC_000016.9:g.27282872GC[7], NC_000016.9:g.27282872GC[8], NC_000016.9:g.27282872GC[9], NC_000016.9:g.27282872GC[10], NC_000016.9:g.27282872GC[11]

Select item 14913600895.

rs1491360089 has merged into rs759237764 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGA>-,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 16:27285128 (GRCh38)
16:27296449 (GRCh37)
Canonical SPDI:: NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000016.10:27285120:AGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000076/20 (TOPMED)
AG=0.000177/3 (TOMMO)
HGVS:: NC_000016.10:g.27285122GA[3], NC_000016.10:g.27285122GA[7], NC_000016.10:g.27285122GA[8], NC_000016.10:g.27285122GA[10], NC_000016.10:g.27285122GA[11], NC_000016.10:g.27285122GA[12], NC_000016.10:g.27285122GA[13], NC_000016.10:g.27285122GA[14], NC_000016.10:g.27285122GA[15], NC_000016.10:g.27285122GA[16], NC_000016.10:g.27285122GA[17], NC_000016.10:g.27285122GA[18], NC_000016.10:g.27285122GA[19], NC_000016.10:g.27285122GA[21], NC_000016.10:g.27285122GA[23], NC_000016.9:g.27296443GA[3], NC_000016.9:g.27296443GA[7], NC_000016.9:g.27296443GA[8], NC_000016.9:g.27296443GA[10], NC_000016.9:g.27296443GA[11], NC_000016.9:g.27296443GA[12], NC_000016.9:g.27296443GA[13], NC_000016.9:g.27296443GA[14], NC_000016.9:g.27296443GA[15], NC_000016.9:g.27296443GA[16], NC_000016.9:g.27296443GA[17], NC_000016.9:g.27296443GA[18], NC_000016.9:g.27296443GA[19], NC_000016.9:g.27296443GA[21], NC_000016.9:g.27296443GA[23]

Select item 14913377506.

rs1491337750 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:27285140 (GRCh38)
16:27296461 (GRCh37)
Canonical SPDI:: NC_000016.10:27285138:ACA:A
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000506/6 (ALFA)
-=0.000546/1 (Korea1K)
-=0.000956/15 (TOMMO)
-=0.0128/1477 (GnomAD)
-=0.04878/188 (ALSPAC)
-=0.101672/377 (TWINSUK)
HGVS:: NC_000016.10:g.27285140_27285141del, NC_000016.9:g.27296461_27296462del

Select item 14909469907.

rs1490946990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:27268453 (GRCh38)
16:27279774 (GRCh37)
Canonical SPDI:: NC_000016.10:27268452:T:C,NC_000016.10:27268452:T:G
Gene:: NSMCE1 (Varview), NSMCE1-DT (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.27268453T>C, NC_000016.10:g.27268453T>G, NC_000016.9:g.27279774T>C, NC_000016.9:g.27279774T>G

Select item 14909327288.

rs1490932728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:27267519 (GRCh38)
16:27278840 (GRCh37)
Canonical SPDI:: NC_000016.10:27267518:C:T
Gene:: NSMCE1 (Varview), NSMCE1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00055/1 (Korea1K)
T=0.00428/72 (TOMMO)
HGVS:: NC_000016.10:g.27267519C>T, NC_000016.9:g.27278840C>T

Select item 14909147739.

rs1490914773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:27273038 (GRCh38)
16:27284359 (GRCh37)
Canonical SPDI:: NC_000016.10:27273037:C:A,NC_000016.10:27273037:C:G
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.27273038C>A, NC_000016.10:g.27273038C>G, NC_000016.9:g.27284359C>A, NC_000016.9:g.27284359C>G

Select item 149079239910.

rs1490792399 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:27275765 (GRCh38)
16:27287086 (GRCh37)
Canonical SPDI:: NC_000016.10:27275764:T:C
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.27275765T>C, NC_000016.9:g.27287086T>C

Select item 149056019911.

rs1490560199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:27279259 (GRCh38)
16:27290580 (GRCh37)
Canonical SPDI:: NC_000016.10:27279258:A:C
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00004/1 (TOMMO)
C=0.00055/1 (Korea1K)
C=0.00068/2 (KOREAN)
HGVS:: NC_000016.10:g.27279259A>C, NC_000016.9:g.27290580A>C

Select item 149045571512.

rs1490455715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:27268022 (GRCh38)
16:27279343 (GRCh37)
Canonical SPDI:: NC_000016.10:27268021:C:A,NC_000016.10:27268021:C:T
Gene:: NSMCE1 (Varview), NSMCE1-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.27268022C>A, NC_000016.10:g.27268022C>T, NC_000016.9:g.27279343C>A, NC_000016.9:g.27279343C>T

Select item 149031133613.

rs1490311336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:27290512 (GRCh38)
16:27301833 (GRCh37)
Canonical SPDI:: NC_000016.10:27290511:G:A,NC_000016.10:27290511:G:T
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.27290512G>A, NC_000016.10:g.27290512G>T, NC_000016.9:g.27301833G>A, NC_000016.9:g.27301833G>T

Select item 149025074614.

rs1490250746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:27284909 (GRCh38)
16:27296230 (GRCh37)
Canonical SPDI:: NC_000016.10:27284908:C:T
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.27284909C>T, NC_000016.9:g.27296230C>T

Select item 149009661315.

rs1490096613 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:27271950 (GRCh38)
16:27283271 (GRCh37)
Canonical SPDI:: NC_000016.10:27271949:A:C,NC_000016.10:27271949:A:G
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.27271950A>C, NC_000016.10:g.27271950A>G, NC_000016.9:g.27283271A>C, NC_000016.9:g.27283271A>G

Select item 148973556416.

rs1489735564 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:27284423 (GRCh38)
16:27295744 (GRCh37)
Canonical SPDI:: NC_000016.10:27284422:A:T
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.27284423A>T, NC_000016.9:g.27295744A>T

Select item 148968385617.

rs1489683856 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:27283282 (GRCh38)
16:27294603 (GRCh37)
Canonical SPDI:: NC_000016.10:27283281:A:G
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.27283282A>G, NC_000016.9:g.27294603A>G

Select item 148941502318.

rs1489415023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:27288803 (GRCh38)
16:27300124 (GRCh37)
Canonical SPDI:: NC_000016.10:27288802:T:C
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000016/2 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.27288803T>C, NC_000016.9:g.27300124T>C, NR_037184.1:n.227T>C

Select item 148935849519.

rs1489358495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:27281877 (GRCh38)
16:27293198 (GRCh37)
Canonical SPDI:: NC_000016.10:27281876:C:G,NC_000016.10:27281876:C:T
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.27281877C>G, NC_000016.10:g.27281877C>T, NC_000016.9:g.27293198C>G, NC_000016.9:g.27293198C>T

Select item 148933999120.

rs1489339991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:27277012 (GRCh38)
16:27288333 (GRCh37)
Canonical SPDI:: NC_000016.10:27277011:G:A
Gene:: NSMCE1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.27277012G>A, NC_000016.9:g.27288333G>A

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