SNP Links for Nucleotide (Select 1028224150) - SNP

Links from Nucleotide

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Select item 14915887011.

rs1491588701 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,ATCA [Show Flanks]
Chromosome:: 10:7644871 (GRCh38)
10:7686835 (GRCh37)
Canonical SPDI:: NC_000010.11:7644871::AA,NC_000010.11:7644871::ATCA
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATCA=0./0 (ALFA)
HGVS:: NC_000010.11:g.7644871_7644872insAA, NC_000010.11:g.7644871_7644872insATCA, NC_000010.10:g.7686834_7686835insAA, NC_000010.10:g.7686834_7686835insATCA, NG_047199.1:g.27127_27128insTT, NG_047199.1:g.27127_27128insTGAT

Select item 14915737352.

rs1491573735 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,GGA,GT [Show Flanks]
Chromosome:: 10:7671236 (GRCh38)
10:7713200 (GRCh37)
Canonical SPDI:: NC_000010.11:7671236::A,NC_000010.11:7671236::GGA,NC_000010.11:7671236::GT
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
GGA=0.00027/12 (GnomAD)
GT=0.00944/35 (TWINSUK)
GT=0.01194/46 (ALSPAC)
HGVS:: NC_000010.11:g.7671236_7671237insA, NC_000010.11:g.7671236_7671237insGGA, NC_000010.11:g.7671236_7671237insGT, NC_000010.10:g.7713199_7713200insA, NC_000010.10:g.7713199_7713200insGGA, NC_000010.10:g.7713199_7713200insGT, NG_047199.1:g.762_763insT, NG_047199.1:g.762_763insTCC, NG_047199.1:g.762_763insAC

Select item 14915725843.

rs1491572584 has merged into rs150673439 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>-,ATTTATTT,ATTTATTTATTT [Show Flanks]
Chromosome:: 10:7557980 (GRCh38)
10:7599942 (GRCh37)
Canonical SPDI:: NC_000010.11:7557965:TTATTTATTTATTTATTT:TTATTTATTTATTT,NC_000010.11:7557965:TTATTTATTTATTTATTT:TTATTTATTTATTTATTTATTT,NC_000010.11:7557965:TTATTTATTTATTTATTT:TTATTTATTTATTTATTTATTTATTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTATTTATTTATTTATTTATTTATTT=0./0 (ALFA)
-=0.023349/116 (1000Genomes)
-=0.040349/10680 (TOPMED)
-=0.042411/190 (Estonian)
-=0.063376/235 (TWINSUK)
-=0.072133/278 (ALSPAC)
-=0.08/48 (NorthernSweden)
HGVS:: NC_000010.11:g.7557968ATTT[3], NC_000010.11:g.7557968ATTT[5], NC_000010.11:g.7557968ATTT[6], NC_000010.10:g.7599930ATTT[3], NC_000010.10:g.7599930ATTT[5], NC_000010.10:g.7599930ATTT[6], NG_047199.1:g.114018ATAA[3], NG_047199.1:g.114018ATAA[5], NG_047199.1:g.114018ATAA[6]

Select item 14915561424.

rs1491556142 has merged into rs376876834 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 10:7625773 (GRCh38)
10:7667736 (GRCh37)
Canonical SPDI:: NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAA,NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:7625764:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.038333/23 (NorthernSweden)
A=0.15/6 (GENOME_DK)
HGVS:: NC_000010.11:g.7625773_7625776del, NC_000010.11:g.7625774_7625776del, NC_000010.11:g.7625775_7625776del, NC_000010.11:g.7625776del, NC_000010.11:g.7625776dup, NC_000010.11:g.7625775_7625776dup, NC_000010.11:g.7625774_7625776dup, NC_000010.11:g.7625773_7625776dup, NC_000010.10:g.7667736_7667739del, NC_000010.10:g.7667737_7667739del, NC_000010.10:g.7667738_7667739del, NC_000010.10:g.7667739del, NC_000010.10:g.7667739dup, NC_000010.10:g.7667738_7667739dup, NC_000010.10:g.7667737_7667739dup, NC_000010.10:g.7667736_7667739dup, NG_047199.1:g.46231_46234del, NG_047199.1:g.46232_46234del, NG_047199.1:g.46233_46234del, NG_047199.1:g.46234del, NG_047199.1:g.46234dup, NG_047199.1:g.46233_46234dup, NG_047199.1:g.46232_46234dup, NG_047199.1:g.46231_46234dup

Select item 14915551325.

rs1491555132 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 10:7641701 (GRCh38)
10:7683664 (GRCh37)
Canonical SPDI:: NC_000010.11:7641699:GGG:G
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.0003/23 (GnomAD)
HGVS:: NC_000010.11:g.7641701_7641702del, NC_000010.10:g.7683664_7683665del, NG_047199.1:g.30298_30299del

Select item 14915358916.

rs1491535891 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:7585825 (GRCh38)
10:7627788 (GRCh37)
Canonical SPDI:: NC_000010.11:7585824:CA:
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.7585825_7585826del, NC_000010.10:g.7627788_7627789del, NG_047199.1:g.86173_86174del

Select item 14915260837.

rs1491526083 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:7610061 (GRCh38)
10:7652025 (GRCh37)
Canonical SPDI:: NC_000010.11:7610061:C:CC
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000033/4 (GnomAD)
C=0.000042/11 (TOPMED)
C=0.001946/32 (TOMMO)
HGVS:: NC_000010.11:g.7610062dup, NC_000010.10:g.7652025dup, NG_047199.1:g.61937dup

Select item 14915210218.

rs1491521021 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAC [Show Flanks]
Chromosome:: 10:7565063 (GRCh38)
10:7607027 (GRCh37)
Canonical SPDI:: NC_000010.11:7565063::GAC
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: GAC=0.0032/292 (GnomAD)
HGVS:: NC_000010.11:g.7565063_7565064insGAC, NC_000010.10:g.7607026_7607027insGAC, NG_047199.1:g.106935_106936insGTC

Select item 14915116019.

rs1491511601 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,CG [Show Flanks]
Chromosome:: 10:7671229 (GRCh38)
10:7713193 (GRCh37)
Canonical SPDI:: NC_000010.11:7671229:G:GAG,NC_000010.11:7671229:G:GCG
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.7671230_7671231insAG, NC_000010.11:g.7671230_7671231insCG, NC_000010.10:g.7713193_7713194insAG, NC_000010.10:g.7713193_7713194insCG, NG_047199.1:g.769_770insTC, NG_047199.1:g.769_770insGC

Select item 149150846810.

rs1491508468 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:7644871 (GRCh38)
10:7686834 (GRCh37)
Canonical SPDI:: NC_000010.11:7644870:TC:
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000034/4 (GnomAD)
HGVS:: NC_000010.11:g.7644871_7644872del, NC_000010.10:g.7686834_7686835del, NG_047199.1:g.27127_27128del

Select item 149150106411.

rs1491501064 has merged into rs138314369 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATACACACACAGACTGTATATATATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA [Show Flanks]
Chromosome:: 10:7565081 (GRCh38)
10:7607044 (GRCh37)
Canonical SPDI:: NC_000010.11:7565070:TATATATATATATA:TATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATATATATATACACACACAGACTGTATATATATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATATATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATATATATATATATA,NC_000010.11:7565070:TATATATATATATA:TATATATATATATATATATATATATA
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.7565071TA[5], NC_000010.11:g.7565071TA[6], NC_000010.11:g.7565071TA[8], NC_000010.11:g.7565071TA[9], NC_000010.11:g.7565071TA[10], NC_000010.11:g.7565071_7565084TA[10]CA[4]GACTGTATATATATATATATA[1], NC_000010.11:g.7565071TA[11], NC_000010.11:g.7565071TA[12], NC_000010.11:g.7565071TA[13], NC_000010.10:g.7607034TA[5], NC_000010.10:g.7607034TA[6], NC_000010.10:g.7607034TA[8], NC_000010.10:g.7607034TA[9], NC_000010.10:g.7607034TA[10], NC_000010.10:g.7607034_7607047TA[10]CA[4]GACTGTATATATATATATATA[1], NC_000010.10:g.7607034TA[11], NC_000010.10:g.7607034TA[12], NC_000010.10:g.7607034TA[13], NG_047199.1:g.106915TA[5], NG_047199.1:g.106915TA[6], NG_047199.1:g.106915TA[8], NG_047199.1:g.106915TA[9], NG_047199.1:g.106915TA[10], NG_047199.1:g.106915_106928TA[8]CAGTCTGTGTGTGTATATATATATATATATATA[1], NG_047199.1:g.106915TA[11], NG_047199.1:g.106915TA[12], NG_047199.1:g.106915TA[13]

Select item 149149561512.

rs1491495615 has merged into rs71383933 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATCACATATATATATATATATATAT [Show Flanks]
Chromosome:: 10:7644969 (GRCh38)
10:7686932 (GRCh37)
Canonical SPDI:: NC_000010.11:7644956:ATATATATATATATAT:ATATATATATAT,NC_000010.11:7644956:ATATATATATATATAT:ATATATATATATAT,NC_000010.11:7644956:ATATATATATATATAT:ATATATATATATATATAT,NC_000010.11:7644956:ATATATATATATATAT:ATATATATATATATATATAT,NC_000010.11:7644956:ATATATATATATATAT:ATATATATATATATATATATAT,NC_000010.11:7644956:ATATATATATATATAT:ATATATATATATATATATCACATATATATATATATATATAT
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATAT=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
-=0.000058/2 (GnomAD)
HGVS:: NC_000010.11:g.7644957AT[6], NC_000010.11:g.7644957AT[7], NC_000010.11:g.7644957AT[9], NC_000010.11:g.7644957AT[10], NC_000010.11:g.7644957AT[11], NC_000010.11:g.7644957_7644972AT[9]CA[2]TA[9]T[1], NC_000010.10:g.7686920AT[6], NC_000010.10:g.7686920AT[7], NC_000010.10:g.7686920AT[9], NC_000010.10:g.7686920AT[10], NC_000010.10:g.7686920AT[11], NC_000010.10:g.7686920_7686935AT[9]CA[2]TA[9]T[1], NG_047199.1:g.27027AT[6], NG_047199.1:g.27027AT[7], NG_047199.1:g.27027AT[9], NG_047199.1:g.27027AT[10], NG_047199.1:g.27027AT[11], NG_047199.1:g.27027_27042AT[10]GTGATATATATATATATATAT[1]

Select item 149149487313.

rs1491494873 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 10:7644864 (GRCh38)
10:7686828 (GRCh37)
Canonical SPDI:: NC_000010.11:7644864:T:TGT
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.7644865_7644866insGT, NC_000010.10:g.7686828_7686829insGT, NG_047199.1:g.27134_27135insCA

Select item 149146967314.

rs1491469673 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 10:7644884 (GRCh38)
10:7686848 (GRCh37)
Canonical SPDI:: NC_000010.11:7644884::AA
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
AA=0.00001/1 (GnomAD)
HGVS:: NC_000010.11:g.7644884_7644885insAA, NC_000010.10:g.7686847_7686848insAA, NG_047199.1:g.27114_27115insTT

Select item 149146086015.

rs1491460860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 10:7631962 (GRCh38)
10:7673926 (GRCh37)
Canonical SPDI:: NC_000010.11:7631962:TT:TTCTT
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
TTC=0.000008/2 (TOPMED)
TTC=0.000066/2 (GnomAD)
HGVS:: NC_000010.11:g.7631964_7631965insCTT, NC_000010.10:g.7673927_7673928insCTT, NG_047199.1:g.40036_40037insGAA

Select item 149144399916.

rs1491443999 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:7625765 (GRCh38)
10:7667729 (GRCh37)
Canonical SPDI:: NC_000010.11:7625765::G
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000010.11:g.7625765_7625766insG, NC_000010.10:g.7667728_7667729insG, NG_047199.1:g.46233_46234insC

Select item 149144199917.

rs1491441999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 10:7624817 (GRCh38)
10:7666781 (GRCh37)
Canonical SPDI:: NC_000010.11:7624817:T:TT
Gene:: ITIH5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00126/8 (GnomAD)
T=0.01842/274 (TOMMO)
T=0.01893/24 (Korea1K)
HGVS:: NC_000010.11:g.7624818dup, NC_000010.10:g.7666781dup, NG_047199.1:g.47181dup

Select item 149142209818.

rs1491422098 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:7584310 (GRCh38)
10:7626273 (GRCh37)
Canonical SPDI:: NC_000010.11:7584308:TCT:T
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00059/7 (ALFA)
-=0.000039/5 (GnomAD)
HGVS:: NC_000010.11:g.7584310_7584311del, NC_000010.10:g.7626273_7626274del, NG_047199.1:g.87689_87690del

Select item 149140688719.

rs1491406887 has merged into rs375732694 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATATACACATATATATAT,ATATATATATACACATATATATAT,ATATATATATACACATATATATATGTGTATATACATGTATATACACATATATATAT,ATATATGTATATACATGTATATACACATATATATAT,ATATGTGTATATACACGTATATACACATATATATAT,ATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACAAATATATAT,ATATGTGTATATACATGTATATACAAATATATAT,ATATGTGTATATACATGTATATACACATATATATAT,ATATGTGTATATACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACACATATATATAT,ATATGTGTATATACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACATATATATAT [Show Flanks]
Chromosome:: 10:7624823 (GRCh38)
10:7666786 (GRCh37)
Canonical SPDI:: NC_000010.11:7624816:ATATATAT:ATATAT,NC_000010.11:7624816:ATATATAT:ATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATATATACACATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATATATATACACATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATATATATACACATATATATATGTGTATATACATGTATATACACATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATATGTATATACATGTATATACACATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATGTGTATATACACGTATATACACATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACAAATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATGTGTATATACATGTATATACAAATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATGTGTATATACATGTATATACACATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATGTGTATATACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACACATATATATAT,NC_000010.11:7624816:ATATATAT:ATATATATATGTGTATATACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACATATATATAT
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
AT=0./0 (KOREAN)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.7624817AT[3], NC_000010.11:g.7624817AT[5], NC_000010.11:g.7624817AT[6], NC_000010.11:g.7624817_7624824AT[7]AC[2]AT[5], NC_000010.11:g.7624817_7624824AT[8]AC[2]AT[5], NC_000010.11:g.7624817_7624824AT[8]AC[2]AT[5]GT[2]AT[2]ACATGTATATACACATATATATAT[1], NC_000010.11:g.7624817_7624824AT[6]GTATATACATGTATATACACATATATATAT[1], NC_000010.11:g.7624817_7624824AT[5]GT[2]AT[2]AC[2]GTATATACACATATATATAT[1], NC_000010.11:g.7624817_7624824AT[5]GT[2]AT[2]ACATATATATACACATATATATGTGTATATACACGTATATACAAATATATAT[1], NC_000010.11:g.7624817_7624824AT[5]GT[2]AT[2]ACATGTATATACAAATATATAT[1], NC_000010.11:g.7624817_7624824AT[5]GT[2]AT[2]ACATGTATATACACATATATATAT[1], NC_000010.11:g.7624817_7624824AT[5]GT[2]AT[2]ACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACACATATATATAT[1], NC_000010.11:g.7624817_7624824AT[5]GT[2]AT[2]ACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACATATATATAT[1], NC_000010.10:g.7666780AT[3], NC_000010.10:g.7666780AT[5], NC_000010.10:g.7666780AT[6], NC_000010.10:g.7666780_7666787AT[7]AC[2]AT[5], NC_000010.10:g.7666780_7666787AT[8]AC[2]AT[5], NC_000010.10:g.7666780_7666787AT[8]AC[2]AT[5]GT[2]AT[2]ACATGTATATACACATATATATAT[1], NC_000010.10:g.7666780_7666787AT[6]GTATATACATGTATATACACATATATATAT[1], NC_000010.10:g.7666780_7666787AT[5]GT[2]AT[2]AC[2]GTATATACACATATATATAT[1], NC_000010.10:g.7666780_7666787AT[5]GT[2]AT[2]ACATATATATACACATATATATGTGTATATACACGTATATACAAATATATAT[1], NC_000010.10:g.7666780_7666787AT[5]GT[2]AT[2]ACATGTATATACAAATATATAT[1], NC_000010.10:g.7666780_7666787AT[5]GT[2]AT[2]ACATGTATATACACATATATATAT[1], NC_000010.10:g.7666780_7666787AT[5]GT[2]AT[2]ACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACACATATATATAT[1], NC_000010.10:g.7666780_7666787AT[5]GT[2]AT[2]ACATGTATATACACATATATATATGTGTATATACATATATATACACATATATATGTGTATATACACGTATATACATATATATAT[1], NG_047199.1:g.47175AT[3], NG_047199.1:g.47175AT[5], NG_047199.1:g.47175AT[6], NG_047199.1:g.47175_47182AT[5]GT[2]AT[7], NG_047199.1:g.47175_47182AT[5]GT[2]AT[8], NG_047199.1:g.47175_47182AT[5]GT[2]AT[2]ACATGTATATACACATATATATATGTGTATATATATATATATAT[1], NG_047199.1:g.47175_47182AT[5]GT[2]AT[2]ACATGTATATACATATATATATAT[1], NG_047199.1:g.47175_47182AT[5]GTGTATATAC[2]ACATATATATAT[1], NG_047199.1:g.47175_47182AT[4]TTGTATATACGTGTATATACACATATATATGTGTATATATATGTATATACACATATATATAT[1], NG_047199.1:g.47175_47182AT[4]TTGTATATACATGTATATACACATATATATAT[1], NG_047199.1:g.47175_47182AT[5]GT[2]AT[2]ACATGTATATACACATATATATAT[1], NG_047199.1:g.47175_47182AT[5]GTGTATATAC[2]ACATATATATGTGTATATATATGTATATACACATATATATATGTGTATATACATGTATATACACATATATATAT[1], NG_047199.1:g.47175_47182AT[5]GTATATACGTGTATATACACATATATATGTGTATATATATGTATATACACATATATATATGTGTATATACATGTATATACACATATATATAT[1]

Select item 149134141420.

rs1491341414 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:7586837 (GRCh38)
10:7628801 (GRCh37)
Canonical SPDI:: NC_000010.11:7586837::C
Gene:: ITIH5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000017/2 (GnomAD)
HGVS:: NC_000010.11:g.7586837_7586838insC, NC_000010.10:g.7628800_7628801insC, NG_047199.1:g.85161_85162insG

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