SNP Links for Nucleotide (Select 313851110) - SNP

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Select item 14915721851.

rs1491572185 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:169507200 (GRCh38)
4:170428351 (GRCh37)
Canonical SPDI:: NC_000004.12:169507199:TG:
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000054/7 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000004.12:g.169507200_169507201del, NC_000004.11:g.170428351_170428352del, NG_027982.1:g.110427_110428del

Select item 14915628762.

rs1491562876 has merged into rs1477153787 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:169587905 (GRCh38)
4:170509056 (GRCh37)
Canonical SPDI:: NC_000004.12:169587904:TTTTTT:TTTTT,NC_000004.12:169587904:TTTTTT:TTTTTTT
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000071/1 (TOMMO)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.169587910del, NC_000004.12:g.169587910dup, NC_000004.11:g.170509061del, NC_000004.11:g.170509061dup, NG_027982.1:g.29723del, NG_027982.1:g.29723dup

Select item 14915298973.

rs1491529897 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:169580494 (GRCh38)
4:170501645 (GRCh37)
Canonical SPDI:: NC_000004.12:169580493:CA:
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000004.12:g.169580494_169580495del, NC_000004.11:g.170501645_170501646del, NG_027982.1:g.37133_37134del

Select item 14915158334.

rs1491515833 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:169413171 (GRCh38)
4:170334322 (GRCh37)
Canonical SPDI:: NC_000004.12:169413170:AT:
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.169413171_169413172del, NC_000004.11:g.170334322_170334323del, NG_027982.1:g.204456_204457del

Select item 14914901585.

rs1491490158 has merged into rs70964213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:169616486 (GRCh38)
4:170537637 (GRCh37)
Canonical SPDI:: NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169616474:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.169616486_169616499del, NC_000004.12:g.169616487_169616499del, NC_000004.12:g.169616488_169616499del, NC_000004.12:g.169616489_169616499del, NC_000004.12:g.169616490_169616499del, NC_000004.12:g.169616491_169616499del, NC_000004.12:g.169616492_169616499del, NC_000004.12:g.169616493_169616499del, NC_000004.12:g.169616494_169616499del, NC_000004.12:g.169616495_169616499del, NC_000004.12:g.169616496_169616499del, NC_000004.12:g.169616497_169616499del, NC_000004.12:g.169616498_169616499del, NC_000004.12:g.169616499del, NC_000004.12:g.169616499dup, NC_000004.12:g.169616498_169616499dup, NC_000004.12:g.169616497_169616499dup, NC_000004.12:g.169616496_169616499dup, NC_000004.12:g.169616495_169616499dup, NC_000004.12:g.169616494_169616499dup, NC_000004.12:g.169616493_169616499dup, NC_000004.12:g.169616492_169616499dup, NC_000004.12:g.169616491_169616499dup, NC_000004.12:g.169616490_169616499dup, NC_000004.12:g.169616489_169616499dup, NC_000004.12:g.169616499_169616500insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.12:g.169616499_169616500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.170537637_170537650del, NC_000004.11:g.170537638_170537650del, NC_000004.11:g.170537639_170537650del, NC_000004.11:g.170537640_170537650del, NC_000004.11:g.170537641_170537650del, NC_000004.11:g.170537642_170537650del, NC_000004.11:g.170537643_170537650del, NC_000004.11:g.170537644_170537650del, NC_000004.11:g.170537645_170537650del, NC_000004.11:g.170537646_170537650del, NC_000004.11:g.170537647_170537650del, NC_000004.11:g.170537648_170537650del, NC_000004.11:g.170537649_170537650del, NC_000004.11:g.170537650del, NC_000004.11:g.170537650dup, NC_000004.11:g.170537649_170537650dup, NC_000004.11:g.170537648_170537650dup, NC_000004.11:g.170537647_170537650dup, NC_000004.11:g.170537646_170537650dup, NC_000004.11:g.170537645_170537650dup, NC_000004.11:g.170537644_170537650dup, NC_000004.11:g.170537643_170537650dup, NC_000004.11:g.170537642_170537650dup, NC_000004.11:g.170537641_170537650dup, NC_000004.11:g.170537640_170537650dup, NC_000004.11:g.170537650_170537651insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.170537650_170537651insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027982.1:g.1140_1153del, NG_027982.1:g.1141_1153del, NG_027982.1:g.1142_1153del, NG_027982.1:g.1143_1153del, NG_027982.1:g.1144_1153del, NG_027982.1:g.1145_1153del, NG_027982.1:g.1146_1153del, NG_027982.1:g.1147_1153del, NG_027982.1:g.1148_1153del, NG_027982.1:g.1149_1153del, NG_027982.1:g.1150_1153del, NG_027982.1:g.1151_1153del, NG_027982.1:g.1152_1153del, NG_027982.1:g.1153del, NG_027982.1:g.1153dup, NG_027982.1:g.1152_1153dup, NG_027982.1:g.1151_1153dup, NG_027982.1:g.1150_1153dup, NG_027982.1:g.1149_1153dup, NG_027982.1:g.1148_1153dup, NG_027982.1:g.1147_1153dup, NG_027982.1:g.1146_1153dup, NG_027982.1:g.1145_1153dup, NG_027982.1:g.1144_1153dup, NG_027982.1:g.1143_1153dup, NG_027982.1:g.1153_1154insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027982.1:g.1153_1154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029731.1:g.966_979del, NG_029731.1:g.967_979del, NG_029731.1:g.968_979del, NG_029731.1:g.969_979del, NG_029731.1:g.970_979del, NG_029731.1:g.971_979del, NG_029731.1:g.972_979del, NG_029731.1:g.973_979del, NG_029731.1:g.974_979del, NG_029731.1:g.975_979del, NG_029731.1:g.976_979del, NG_029731.1:g.977_979del, NG_029731.1:g.978_979del, NG_029731.1:g.979del, NG_029731.1:g.979dup, NG_029731.1:g.978_979dup, NG_029731.1:g.977_979dup, NG_029731.1:g.976_979dup, NG_029731.1:g.975_979dup, NG_029731.1:g.974_979dup, NG_029731.1:g.973_979dup, NG_029731.1:g.972_979dup, NG_029731.1:g.971_979dup, NG_029731.1:g.970_979dup, NG_029731.1:g.969_979dup, NG_029731.1:g.979_980insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029731.1:g.979_980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914516116.

rs1491451611 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:169587904 (GRCh38)
4:170509055 (GRCh37)
Canonical SPDI:: NC_000004.12:169587903:CT:
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.169587904_169587905del, NC_000004.11:g.170509055_170509056del, NG_027982.1:g.29723_29724del

Select item 14914452987.

rs1491445298 has merged into rs201151434 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA [Show Flanks]
Chromosome:: 4:169445879 (GRCh38)
4:170367030 (GRCh37)
Canonical SPDI:: NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000004.12:169445865:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
AC=0.00167/1 (NorthernSweden)
AC=0.01416/237 (TOMMO)
AC=0.01583/29 (Korea1K)
HGVS:: NC_000004.12:g.169445867CA[6], NC_000004.12:g.169445867CA[7], NC_000004.12:g.169445867CA[8], NC_000004.12:g.169445867CA[9], NC_000004.12:g.169445867CA[11], NC_000004.12:g.169445867CA[12], NC_000004.12:g.169445867CA[13], NC_000004.12:g.169445867CA[14], NC_000004.12:g.169445867CA[15], NC_000004.12:g.169445867CA[16], NC_000004.12:g.169445867CA[17], NC_000004.11:g.170367018CA[6], NC_000004.11:g.170367018CA[7], NC_000004.11:g.170367018CA[8], NC_000004.11:g.170367018CA[9], NC_000004.11:g.170367018CA[11], NC_000004.11:g.170367018CA[12], NC_000004.11:g.170367018CA[13], NC_000004.11:g.170367018CA[14], NC_000004.11:g.170367018CA[15], NC_000004.11:g.170367018CA[16], NC_000004.11:g.170367018CA[17], NG_027982.1:g.171743GT[6], NG_027982.1:g.171743GT[7], NG_027982.1:g.171743GT[8], NG_027982.1:g.171743GT[9], NG_027982.1:g.171743GT[11], NG_027982.1:g.171743GT[12], NG_027982.1:g.171743GT[13], NG_027982.1:g.171743GT[14], NG_027982.1:g.171743GT[15], NG_027982.1:g.171743GT[16], NG_027982.1:g.171743GT[17]

Select item 14914426998.

rs1491442699 has merged into rs5863996 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:169413182 (GRCh38)
4:170334333 (GRCh37)
Canonical SPDI:: NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:169413171:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.0867/334 (ALSPAC)
T=0.0928/344 (TWINSUK)
T=0.1/4 (GENOME_DK)
T=0.1202/120 (GoNL)
T=0.1371/82 (NorthernSweden)
T=0.1997/1000 (1000Genomes)
HGVS:: NC_000004.12:g.169413182_169413185del, NC_000004.12:g.169413183_169413185del, NC_000004.12:g.169413184_169413185del, NC_000004.12:g.169413185del, NC_000004.12:g.169413185dup, NC_000004.12:g.169413184_169413185dup, NC_000004.12:g.169413183_169413185dup, NC_000004.12:g.169413178_169413185dup, NC_000004.12:g.169413172_169413185dup, NC_000004.11:g.170334333_170334336del, NC_000004.11:g.170334334_170334336del, NC_000004.11:g.170334335_170334336del, NC_000004.11:g.170334336del, NC_000004.11:g.170334336dup, NC_000004.11:g.170334335_170334336dup, NC_000004.11:g.170334334_170334336dup, NC_000004.11:g.170334329_170334336dup, NC_000004.11:g.170334323_170334336dup, NG_027982.1:g.204453_204456del, NG_027982.1:g.204454_204456del, NG_027982.1:g.204455_204456del, NG_027982.1:g.204456del, NG_027982.1:g.204456dup, NG_027982.1:g.204455_204456dup, NG_027982.1:g.204454_204456dup, NG_027982.1:g.204449_204456dup, NG_027982.1:g.204443_204456dup

Select item 14914088829.

rs1491408882 has merged into rs141863651 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAA [Show Flanks]
Chromosome:: 4:169562003 (GRCh38)
4:170483154 (GRCh37)
Canonical SPDI:: NC_000004.12:169562002:AAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:169562002:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:169562002:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:169562002:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.169562013del, NC_000004.12:g.169562013dup, NC_000004.12:g.169562012_169562013dup, NC_000004.12:g.169562011_169562013dup, NC_000004.11:g.170483164del, NC_000004.11:g.170483164dup, NC_000004.11:g.170483163_170483164dup, NC_000004.11:g.170483162_170483164dup, NG_027982.1:g.55625del, NG_027982.1:g.55625dup, NG_027982.1:g.55624_55625dup, NG_027982.1:g.55623_55625dup

Select item 149137092310.

rs1491370923 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:169452157 (GRCh38)
4:170373309 (GRCh37)
Canonical SPDI:: NC_000004.12:169452157:AAA:AAAA
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.169452160dup, NC_000004.11:g.170373311dup, NG_027982.1:g.165470dup

Select item 149133976111.

rs1491339761 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:169428372 (GRCh38)
4:170349523 (GRCh37)
Canonical SPDI:: NC_000004.12:169428371:AA:
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.169428372_169428373del, NC_000004.11:g.170349523_170349524del, NG_027982.1:g.189255_189256del

Select item 149129163112.

rs1491291631 has merged into rs70964208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:169491147 (GRCh38)
4:170412298 (GRCh37)
Canonical SPDI:: NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169491136:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.169491147_169491163del, NC_000004.12:g.169491148_169491163del, NC_000004.12:g.169491149_169491163del, NC_000004.12:g.169491150_169491163del, NC_000004.12:g.169491151_169491163del, NC_000004.12:g.169491152_169491163del, NC_000004.12:g.169491153_169491163del, NC_000004.12:g.169491154_169491163del, NC_000004.12:g.169491155_169491163del, NC_000004.12:g.169491156_169491163del, NC_000004.12:g.169491157_169491163del, NC_000004.12:g.169491158_169491163del, NC_000004.12:g.169491159_169491163del, NC_000004.12:g.169491160_169491163del, NC_000004.12:g.169491161_169491163del, NC_000004.12:g.169491162_169491163del, NC_000004.12:g.169491163del, NC_000004.12:g.169491163dup, NC_000004.12:g.169491162_169491163dup, NC_000004.12:g.169491161_169491163dup, NC_000004.12:g.169491160_169491163dup, NC_000004.12:g.169491159_169491163dup, NC_000004.12:g.169491158_169491163dup, NC_000004.12:g.169491157_169491163dup, NC_000004.12:g.169491156_169491163dup, NC_000004.12:g.169491155_169491163dup, NC_000004.12:g.169491154_169491163dup, NC_000004.12:g.169491153_169491163dup, NC_000004.12:g.169491152_169491163dup, NC_000004.12:g.169491151_169491163dup, NC_000004.12:g.169491149_169491163dup, NC_000004.12:g.169491144_169491163dup, NC_000004.11:g.170412298_170412314del, NC_000004.11:g.170412299_170412314del, NC_000004.11:g.170412300_170412314del, NC_000004.11:g.170412301_170412314del, NC_000004.11:g.170412302_170412314del, NC_000004.11:g.170412303_170412314del, NC_000004.11:g.170412304_170412314del, NC_000004.11:g.170412305_170412314del, NC_000004.11:g.170412306_170412314del, NC_000004.11:g.170412307_170412314del, NC_000004.11:g.170412308_170412314del, NC_000004.11:g.170412309_170412314del, NC_000004.11:g.170412310_170412314del, NC_000004.11:g.170412311_170412314del, NC_000004.11:g.170412312_170412314del, NC_000004.11:g.170412313_170412314del, NC_000004.11:g.170412314del, NC_000004.11:g.170412314dup, NC_000004.11:g.170412313_170412314dup, NC_000004.11:g.170412312_170412314dup, NC_000004.11:g.170412311_170412314dup, NC_000004.11:g.170412310_170412314dup, NC_000004.11:g.170412309_170412314dup, NC_000004.11:g.170412308_170412314dup, NC_000004.11:g.170412307_170412314dup, NC_000004.11:g.170412306_170412314dup, NC_000004.11:g.170412305_170412314dup, NC_000004.11:g.170412304_170412314dup, NC_000004.11:g.170412303_170412314dup, NC_000004.11:g.170412302_170412314dup, NC_000004.11:g.170412300_170412314dup, NC_000004.11:g.170412295_170412314dup, NG_027982.1:g.126475_126491del, NG_027982.1:g.126476_126491del, NG_027982.1:g.126477_126491del, NG_027982.1:g.126478_126491del, NG_027982.1:g.126479_126491del, NG_027982.1:g.126480_126491del, NG_027982.1:g.126481_126491del, NG_027982.1:g.126482_126491del, NG_027982.1:g.126483_126491del, NG_027982.1:g.126484_126491del, NG_027982.1:g.126485_126491del, NG_027982.1:g.126486_126491del, NG_027982.1:g.126487_126491del, NG_027982.1:g.126488_126491del, NG_027982.1:g.126489_126491del, NG_027982.1:g.126490_126491del, NG_027982.1:g.126491del, NG_027982.1:g.126491dup, NG_027982.1:g.126490_126491dup, NG_027982.1:g.126489_126491dup, NG_027982.1:g.126488_126491dup, NG_027982.1:g.126487_126491dup, NG_027982.1:g.126486_126491dup, NG_027982.1:g.126485_126491dup, NG_027982.1:g.126484_126491dup, NG_027982.1:g.126483_126491dup, NG_027982.1:g.126482_126491dup, NG_027982.1:g.126481_126491dup, NG_027982.1:g.126480_126491dup, NG_027982.1:g.126479_126491dup, NG_027982.1:g.126477_126491dup, NG_027982.1:g.126472_126491dup

Select item 149127691713.

rs1491276917 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:169491136 (GRCh38)
4:170412287 (GRCh37)
Canonical SPDI:: NC_000004.12:169491135:CA:
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00163/25 (TOMMO)
HGVS:: NC_000004.12:g.169491136_169491137del, NC_000004.11:g.170412287_170412288del, NG_027982.1:g.126491_126492del

Select item 149127175414.

rs1491271754 has merged into rs1305410507 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:169581445 (GRCh38)
4:170502596 (GRCh37)
Canonical SPDI:: NC_000004.12:169581444:TTTTTTTT:TTTTTTT,NC_000004.12:169581444:TTTTTTTT:TTTTTTTTT
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.169581452del, NC_000004.12:g.169581452dup, NC_000004.11:g.170502603del, NC_000004.11:g.170502603dup, NG_027982.1:g.36183del, NG_027982.1:g.36183dup

Select item 149126365715.

rs1491263657 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:169445886 (GRCh38)
4:170367037 (GRCh37)
Canonical SPDI:: NC_000004.12:169445885:AT:
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000052/7 (GnomAD)
HGVS:: NC_000004.12:g.169445886_169445887del, NC_000004.11:g.170367037_170367038del, NG_027982.1:g.171741_171742del

Select item 149125448416.

rs1491254484 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:169591154 (GRCh38)
4:170512306 (GRCh37)
Canonical SPDI:: NC_000004.12:169591154:A:AA
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.169591155dup, NC_000004.11:g.170512306dup, NG_027982.1:g.26473dup

Select item 149124010617.

rs1491240106 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATACACACACC [Show Flanks]
Chromosome:: 4:169445866 (GRCh38)
4:170367018 (GRCh37)
Canonical SPDI:: NC_000004.12:169445866::TATACACACACC
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATACACACACC=0./0 (ALFA)
TATACACACACC=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.169445866_169445867insTATACACACACC, NC_000004.11:g.170367017_170367018insTATACACACACC, NG_027982.1:g.171761_171762insGGTGTGTGTATA

Select item 149115344218.

rs1491153442 has merged into rs70964204 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATACATATATATATATATATATATATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 4:169445861 (GRCh38)
4:170367012 (GRCh37)
Canonical SPDI:: NC_000004.12:169445849:ATATATATATATATATA:ATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATACATATATATATATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000004.12:169445849:ATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA
Gene:: NEK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATA=0./0 (ALFA)
AT=0.35/14 (GENOME_DK)
HGVS:: NC_000004.12:g.169445851TA[5], NC_000004.12:g.169445851TA[6], NC_000004.12:g.169445851TA[7], NC_000004.12:g.169445851TA[9], NC_000004.12:g.169445851TA[10], NC_000004.12:g.169445851TA[11], NC_000004.12:g.169445851TA[12], NC_000004.12:g.169445851TA[13], NC_000004.12:g.169445850_169445866AT[13]ACATATATATATATATATATATATATATATATATATA[1], NC_000004.12:g.169445851TA[14], NC_000004.12:g.169445851TA[15], NC_000004.12:g.169445851TA[16], NC_000004.12:g.169445851TA[17], NC_000004.12:g.169445851TA[18], NC_000004.12:g.169445851TA[19], NC_000004.11:g.170367002TA[5], NC_000004.11:g.170367002TA[6], NC_000004.11:g.170367002TA[7], NC_000004.11:g.170367002TA[9], NC_000004.11:g.170367002TA[10], NC_000004.11:g.170367002TA[11], NC_000004.11:g.170367002TA[12], NC_000004.11:g.170367002TA[13], NC_000004.11:g.170367001_170367017AT[13]ACATATATATATATATATATATATATATATATATATA[1], NC_000004.11:g.170367002TA[14], NC_000004.11:g.170367002TA[15], NC_000004.11:g.170367002TA[16], NC_000004.11:g.170367002TA[17], NC_000004.11:g.170367002TA[18], NC_000004.11:g.170367002TA[19], NG_027982.1:g.171763AT[5], NG_027982.1:g.171763AT[6], NG_027982.1:g.171763AT[7], NG_027982.1:g.171763AT[9], NG_027982.1:g.171763AT[10], NG_027982.1:g.171763AT[11], NG_027982.1:g.171763AT[12], NG_027982.1:g.171763AT[13], NG_027982.1:g.171762_171778TA[17]TGTATATATATATATATATATATATATAT[1], NG_027982.1:g.171763AT[14], NG_027982.1:g.171763AT[15], NG_027982.1:g.171763AT[16], NG_027982.1:g.171763AT[17], NG_027982.1:g.171763AT[18], NG_027982.1:g.171763AT[19]

Select item 149113276119.

rs1491132761 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 4:169616475 (GRCh38)
4:170537627 (GRCh37)
Canonical SPDI:: NC_000004.12:169616475:T:TGT
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00007/4 (GnomAD)
TG=0.00077/21 (TOMMO)
HGVS:: NC_000004.12:g.169616476_169616477insGT, NC_000004.11:g.170537627_170537628insGT, NG_027982.1:g.1152_1153insCA, NG_029731.1:g.956_957insGT

Select item 149112181620.

rs1491121816 has merged into rs11348370 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:169580503 (GRCh38)
4:170501654 (GRCh37)
Canonical SPDI:: NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:169580494:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.375/12 (GENOME_DK)
A=0.4121/2064 (1000Genomes)
HGVS:: NC_000004.12:g.169580503_169580516del, NC_000004.12:g.169580504_169580516del, NC_000004.12:g.169580505_169580516del, NC_000004.12:g.169580507_169580516del, NC_000004.12:g.169580508_169580516del, NC_000004.12:g.169580512_169580516del, NC_000004.12:g.169580513_169580516del, NC_000004.12:g.169580514_169580516del, NC_000004.12:g.169580515_169580516del, NC_000004.12:g.169580516del, NC_000004.12:g.169580516dup, NC_000004.12:g.169580515_169580516dup, NC_000004.12:g.169580514_169580516dup, NC_000004.12:g.169580513_169580516dup, NC_000004.12:g.169580512_169580516dup, NC_000004.12:g.169580510_169580516dup, NC_000004.12:g.169580509_169580516dup, NC_000004.12:g.169580516_169580517insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.169580516_169580517insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.170501654_170501667del, NC_000004.11:g.170501655_170501667del, NC_000004.11:g.170501656_170501667del, NC_000004.11:g.170501658_170501667del, NC_000004.11:g.170501659_170501667del, NC_000004.11:g.170501663_170501667del, NC_000004.11:g.170501664_170501667del, NC_000004.11:g.170501665_170501667del, NC_000004.11:g.170501666_170501667del, NC_000004.11:g.170501667del, NC_000004.11:g.170501667dup, NC_000004.11:g.170501666_170501667dup, NC_000004.11:g.170501665_170501667dup, NC_000004.11:g.170501664_170501667dup, NC_000004.11:g.170501663_170501667dup, NC_000004.11:g.170501661_170501667dup, NC_000004.11:g.170501660_170501667dup, NC_000004.11:g.170501667_170501668insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.170501667_170501668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027982.1:g.37120_37133del, NG_027982.1:g.37121_37133del, NG_027982.1:g.37122_37133del, NG_027982.1:g.37124_37133del, NG_027982.1:g.37125_37133del, NG_027982.1:g.37129_37133del, NG_027982.1:g.37130_37133del, NG_027982.1:g.37131_37133del, NG_027982.1:g.37132_37133del, NG_027982.1:g.37133del, NG_027982.1:g.37133dup, NG_027982.1:g.37132_37133dup, NG_027982.1:g.37131_37133dup, NG_027982.1:g.37130_37133dup, NG_027982.1:g.37129_37133dup, NG_027982.1:g.37127_37133dup, NG_027982.1:g.37126_37133dup, NG_027982.1:g.37133_37134insTTTTTTTTTTTTTTTTTTTTTTTT, NG_027982.1:g.37133_37134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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