SNP Links for Nucleotide (Select 197245422) - SNP

Links from Nucleotide

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Select item 14914777841.

rs1491477784 has merged into rs361680 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 22:29483782 (GRCh38)
22:29879771 (GRCh37)
Canonical SPDI:: NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29483768:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.0029/1 (NorthernSweden)
-=0.425/17 (GENOME_DK)
-=0.4872/2440 (1000Genomes)
HGVS:: NC_000022.11:g.29483782_29483788del, NC_000022.11:g.29483783_29483788del, NC_000022.11:g.29483784_29483788del, NC_000022.11:g.29483785_29483788del, NC_000022.11:g.29483786_29483788del, NC_000022.11:g.29483787_29483788del, NC_000022.11:g.29483788del, NC_000022.11:g.29483788dup, NC_000022.11:g.29483787_29483788dup, NC_000022.11:g.29483786_29483788dup, NC_000022.10:g.29879771_29879777del, NC_000022.10:g.29879772_29879777del, NC_000022.10:g.29879773_29879777del, NC_000022.10:g.29879774_29879777del, NC_000022.10:g.29879775_29879777del, NC_000022.10:g.29879776_29879777del, NC_000022.10:g.29879777del, NC_000022.10:g.29879777dup, NC_000022.10:g.29879776_29879777dup, NC_000022.10:g.29879775_29879777dup, NG_008404.1:g.8591_8597del, NG_008404.1:g.8592_8597del, NG_008404.1:g.8593_8597del, NG_008404.1:g.8594_8597del, NG_008404.1:g.8595_8597del, NG_008404.1:g.8596_8597del, NG_008404.1:g.8597del, NG_008404.1:g.8597dup, NG_008404.1:g.8596_8597dup, NG_008404.1:g.8595_8597dup

Select item 14913745412.

rs1491374541 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:29483768 (GRCh38)
22:29879757 (GRCh37)
Canonical SPDI:: NC_000022.11:29483767:GA:
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.29483768_29483769del, NC_000022.10:g.29879757_29879758del, NG_008404.1:g.8577_8578del

Select item 14908570683.

rs1490857068 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 22:29482884 (GRCh38)
22:29878873 (GRCh37)
Canonical SPDI:: NC_000022.11:29482883:GGGG:GGG
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000022.11:g.29482887del, NC_000022.10:g.29878876del, NG_008404.1:g.7696del

Select item 14907319934.

rs1490731993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:29476159 (GRCh38)
22:29872148 (GRCh37)
Canonical SPDI:: NC_000022.11:29476158:G:A,NC_000022.11:29476158:G:C
Gene:: LOC107985541 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.29476159G>A, NC_000022.11:g.29476159G>C, NC_000022.10:g.29872148G>A, NC_000022.10:g.29872148G>C, NG_008404.1:g.968G>A, NG_008404.1:g.968G>C

Select item 14906917875.

rs1490691787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29489471 (GRCh38)
22:29885460 (GRCh37)
Canonical SPDI:: NC_000022.11:29489470:G:A
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29489471G>A, NC_000022.10:g.29885460G>A, NG_008404.1:g.14280G>A, NM_021076.4:c.1831G>A, NM_021076.3:c.1831G>A, NP_066554.2:p.Glu611Lys

Select item 14906817516.

rs1490681751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:29487488 (GRCh38)
22:29883477 (GRCh37)
Canonical SPDI:: NC_000022.11:29487487:T:C,NC_000022.11:29487487:T:G
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0004/2 (ALFA)
HGVS:: NC_000022.11:g.29487488T>C, NC_000022.11:g.29487488T>G, NC_000022.10:g.29883477T>C, NC_000022.10:g.29883477T>G, NG_008404.1:g.12297T>C, NG_008404.1:g.12297T>G

Select item 14906435587.

rs1490643558 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:29491123 (GRCh38)
22:29887112 (GRCh37)
Canonical SPDI:: NC_000022.11:29491121:TCT:T
Gene:: NEFH (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.29491123_29491124del, NC_000022.10:g.29887112_29887113del, NG_008404.1:g.15932_15933del, NM_021076.4:c.*420_*421del, NM_021076.3:c.*420_*421del, XM_011530200.3:c.*420_*421del, XM_011530200.2:c.*420_*421del, XM_011530200.1:c.*420_*421del

Select item 14905527528.

rs1490552752 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:29490622 (GRCh38)
22:29886612 (GRCh37)
Canonical SPDI:: NC_000022.11:29490622:G:GG
Gene:: NEFH (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.29490623dup, NC_000022.10:g.29886612dup, NG_008404.1:g.15432dup, NM_021076.4:c.2983dup, NM_021076.3:c.2983dup, XM_011530200.3:c.2695dup, XM_011530200.2:c.2695dup, XM_011530200.1:c.2695dup, NP_066554.2:p.Glu995fs, XP_011528502.1:p.Glu899fs

Select item 14905276169.

rs1490527616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:29489894 (GRCh38)
22:29885883 (GRCh37)
Canonical SPDI:: NC_000022.11:29489893:T:A
Gene:: NEFH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.29489894T>A, NC_000022.10:g.29885883T>A, NG_008404.1:g.14703T>A, NM_021076.4:c.2254T>A, NM_021076.3:c.2254T>A, XM_011530200.3:c.1966T>A, XM_011530200.2:c.1966T>A, XM_011530200.1:c.1966T>A, NP_066554.2:p.Ser752Thr, XP_011528502.1:p.Ser656Thr

Select item 149019104910.

rs1490191049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:29486530 (GRCh38)
22:29882519 (GRCh37)
Canonical SPDI:: NC_000022.11:29486529:T:G
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.29486530T>G, NC_000022.10:g.29882519T>G, NG_008404.1:g.11339T>G

Select item 149000121611.

rs1490001216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:29487762 (GRCh38)
22:29883751 (GRCh37)
Canonical SPDI:: NC_000022.11:29487761:C:T
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000022.11:g.29487762C>T, NC_000022.10:g.29883751C>T, NG_008404.1:g.12571C>T

Select item 148970356612.

rs1489703566 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29477281 (GRCh38)
22:29873270 (GRCh37)
Canonical SPDI:: NC_000022.11:29477280:G:A
Gene:: LOC107985541 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29477281G>A, NC_000022.10:g.29873270G>A, NG_008404.1:g.2090G>A

Select item 148937127313.

rs1489371273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:29485251 (GRCh38)
22:29881240 (GRCh37)
Canonical SPDI:: NC_000022.11:29485250:T:C
Gene:: NEFH (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_000022.11:g.29485251T>C, NC_000022.10:g.29881240T>C, NG_008404.1:g.10060T>C

Select item 148927048314.

rs1489270483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:29488260 (GRCh38)
22:29884249 (GRCh37)
Canonical SPDI:: NC_000022.11:29488259:A:G
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29488260A>G, NC_000022.10:g.29884249A>G, NG_008404.1:g.13069A>G

Select item 148887204115.

rs1488872041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:29491883 (GRCh38)
22:29887872 (GRCh37)
Canonical SPDI:: NC_000022.11:29491882:A:G
Gene:: NEFH (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.29491883A>G, NC_000022.10:g.29887872A>G, NG_008404.1:g.16692A>G

Select item 148884200116.

rs1488842001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:29492524 (GRCh38)
22:29888513 (GRCh37)
Canonical SPDI:: NC_000022.11:29492523:G:A
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.29492524G>A, NC_000022.10:g.29888513G>A, NG_008404.1:g.17333G>A

Select item 148879739617.

rs1488797396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:29493130 (GRCh38)
22:29889119 (GRCh37)
Canonical SPDI:: NC_000022.11:29493129:C:A,NC_000022.11:29493129:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.29493130C>A, NC_000022.11:g.29493130C>T, NC_000022.10:g.29889119C>A, NC_000022.10:g.29889119C>T, NG_008404.1:g.17939C>A, NG_008404.1:g.17939C>T

Select item 148869974618.

rs1488699746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:29482472 (GRCh38)
22:29878461 (GRCh37)
Canonical SPDI:: NC_000022.11:29482471:G:C
Gene:: NEFH (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_000022.11:g.29482472G>C, NC_000022.10:g.29878461G>C, NG_008404.1:g.7281G>C

Select item 148857509719.

rs1488575097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:29484835 (GRCh38)
22:29880824 (GRCh37)
Canonical SPDI:: NC_000022.11:29484834:T:G
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.29484835T>G, NC_000022.10:g.29880824T>G, NG_008404.1:g.9644T>G

Select item 148839589120.

rs1488395891 has merged into rs1287229513 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AAAAA [Show Flanks]
Chromosome:: 22:29488386 (GRCh38)
22:29884375 (GRCh37)
Canonical SPDI:: NC_000022.11:29488382:AAAAAAA:AAA,NC_000022.11:29488382:AAAAAAA:AAAAAAAA
Gene:: NEFH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.29488386_29488389del, NC_000022.11:g.29488389dup, NC_000022.10:g.29884375_29884378del, NC_000022.10:g.29884378dup, NG_008404.1:g.13195_13198del, NG_008404.1:g.13198dup

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