SNP Links for Gene (Select 5194) - SNP

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Select item 14915484351.

rs1491548435 has merged into rs1210370830 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 2:61023431 (GRCh38)
2:61250566 (GRCh37)
Canonical SPDI:: NC_000002.12:61023428:ATAT:AT,NC_000002.12:61023428:ATAT:ATATAT
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.61023429AT[1], NC_000002.12:g.61023429AT[3], NC_000002.11:g.61250564AT[1], NC_000002.11:g.61250564AT[3], NG_008665.1:g.10753AT[1], NG_008665.1:g.10753AT[3]

Select item 14914020982.

rs1491402098 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:61043352 (GRCh38)
2:61270488 (GRCh37)
Canonical SPDI:: NC_000002.12:61043352::G
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000067/9 (GnomAD)
HGVS:: NC_000002.12:g.61043352_61043353insG, NC_000002.11:g.61270487_61270488insG, NG_008665.1:g.30676_30677insG

Select item 14913165133.

rs1491316513 has merged into rs539310122 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:61029149 (GRCh38)
2:61256284 (GRCh37)
Canonical SPDI:: NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:61029139:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.348/1743 (1000Genomes)
HGVS:: NC_000002.12:g.61029149_61029155del, NC_000002.12:g.61029150_61029155del, NC_000002.12:g.61029151_61029155del, NC_000002.12:g.61029152_61029155del, NC_000002.12:g.61029153_61029155del, NC_000002.12:g.61029154_61029155del, NC_000002.12:g.61029155del, NC_000002.12:g.61029155dup, NC_000002.12:g.61029154_61029155dup, NC_000002.12:g.61029153_61029155dup, NC_000002.12:g.61029152_61029155dup, NC_000002.12:g.61029150_61029155dup, NC_000002.11:g.61256284_61256290del, NC_000002.11:g.61256285_61256290del, NC_000002.11:g.61256286_61256290del, NC_000002.11:g.61256287_61256290del, NC_000002.11:g.61256288_61256290del, NC_000002.11:g.61256289_61256290del, NC_000002.11:g.61256290del, NC_000002.11:g.61256290dup, NC_000002.11:g.61256289_61256290dup, NC_000002.11:g.61256288_61256290dup, NC_000002.11:g.61256287_61256290dup, NC_000002.11:g.61256285_61256290dup, NG_008665.1:g.16473_16479del, NG_008665.1:g.16474_16479del, NG_008665.1:g.16475_16479del, NG_008665.1:g.16476_16479del, NG_008665.1:g.16477_16479del, NG_008665.1:g.16478_16479del, NG_008665.1:g.16479del, NG_008665.1:g.16479dup, NG_008665.1:g.16478_16479dup, NG_008665.1:g.16477_16479dup, NG_008665.1:g.16476_16479dup, NG_008665.1:g.16474_16479dup

Select item 14913002464.

rs1491300246 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:61029761 (GRCh38)
2:61256896 (GRCh37)
Canonical SPDI:: NC_000002.12:61029759:TAT:T
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61029761_61029762del, NC_000002.11:g.61256896_61256897del, NG_008665.1:g.17085_17086del

Select item 14911925265.

rs1491192526 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:61029760 (GRCh38)
2:61256896 (GRCh37)
Canonical SPDI:: NC_000002.12:61029760:A:AA
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.61029761dup, NC_000002.11:g.61256896dup, NG_008665.1:g.17085dup

Select item 14911310676.

rs1491131067 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:61043353 (GRCh38)
2:61270488 (GRCh37)
Canonical SPDI:: NC_000002.12:61043351:ACA:A
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.61043353_61043354del, NC_000002.11:g.61270488_61270489del, NG_008665.1:g.30677_30678del

Select item 14911005917.

rs1491100591 has merged into rs70959888 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 2:61023416 (GRCh38)
2:61250551 (GRCh37)
Canonical SPDI:: NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
AC=0.3/12 (GENOME_DK)
HGVS:: NC_000002.12:g.61023404CA[6], NC_000002.12:g.61023404CA[7], NC_000002.12:g.61023404CA[8], NC_000002.12:g.61023404CA[9], NC_000002.12:g.61023404CA[10], NC_000002.12:g.61023404CA[11], NC_000002.12:g.61023404CA[12], NC_000002.12:g.61023404CA[14], NC_000002.12:g.61023404CA[15], NC_000002.12:g.61023404CA[16], NC_000002.12:g.61023404CA[17], NC_000002.12:g.61023404CA[18], NC_000002.12:g.61023404CA[19], NC_000002.12:g.61023404CA[20], NC_000002.11:g.61250539CA[6], NC_000002.11:g.61250539CA[7], NC_000002.11:g.61250539CA[8], NC_000002.11:g.61250539CA[9], NC_000002.11:g.61250539CA[10], NC_000002.11:g.61250539CA[11], NC_000002.11:g.61250539CA[12], NC_000002.11:g.61250539CA[14], NC_000002.11:g.61250539CA[15], NC_000002.11:g.61250539CA[16], NC_000002.11:g.61250539CA[17], NC_000002.11:g.61250539CA[18], NC_000002.11:g.61250539CA[19], NC_000002.11:g.61250539CA[20], NG_008665.1:g.10728CA[6], NG_008665.1:g.10728CA[7], NG_008665.1:g.10728CA[8], NG_008665.1:g.10728CA[9], NG_008665.1:g.10728CA[10], NG_008665.1:g.10728CA[11], NG_008665.1:g.10728CA[12], NG_008665.1:g.10728CA[14], NG_008665.1:g.10728CA[15], NG_008665.1:g.10728CA[16], NG_008665.1:g.10728CA[17], NG_008665.1:g.10728CA[18], NG_008665.1:g.10728CA[19], NG_008665.1:g.10728CA[20]

Select item 14910736908.

rs1491073690 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:61027353 (GRCh38)
2:61254488 (GRCh37)
Canonical SPDI:: NC_000002.12:61027351:ACA:A
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.61027353_61027354del, NC_000002.11:g.61254488_61254489del, NG_008665.1:g.14677_14678del

Select item 14909555829.

rs1490955582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61025032 (GRCh38)
2:61252167 (GRCh37)
Canonical SPDI:: NC_000002.12:61025031:C:T
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
T=0.000684/2 (KOREAN)
HGVS:: NC_000002.12:g.61025032C>T, NC_000002.11:g.61252167C>T, NG_008665.1:g.12356C>T

Select item 149084888010.

rs1490848880 has merged into rs70959888 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 2:61023416 (GRCh38)
2:61250551 (GRCh37)
Canonical SPDI:: NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000002.12:61023402:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
AC=0.3/12 (GENOME_DK)
HGVS:: NC_000002.12:g.61023404CA[6], NC_000002.12:g.61023404CA[7], NC_000002.12:g.61023404CA[8], NC_000002.12:g.61023404CA[9], NC_000002.12:g.61023404CA[10], NC_000002.12:g.61023404CA[11], NC_000002.12:g.61023404CA[12], NC_000002.12:g.61023404CA[14], NC_000002.12:g.61023404CA[15], NC_000002.12:g.61023404CA[16], NC_000002.12:g.61023404CA[17], NC_000002.12:g.61023404CA[18], NC_000002.12:g.61023404CA[19], NC_000002.12:g.61023404CA[20], NC_000002.11:g.61250539CA[6], NC_000002.11:g.61250539CA[7], NC_000002.11:g.61250539CA[8], NC_000002.11:g.61250539CA[9], NC_000002.11:g.61250539CA[10], NC_000002.11:g.61250539CA[11], NC_000002.11:g.61250539CA[12], NC_000002.11:g.61250539CA[14], NC_000002.11:g.61250539CA[15], NC_000002.11:g.61250539CA[16], NC_000002.11:g.61250539CA[17], NC_000002.11:g.61250539CA[18], NC_000002.11:g.61250539CA[19], NC_000002.11:g.61250539CA[20], NG_008665.1:g.10728CA[6], NG_008665.1:g.10728CA[7], NG_008665.1:g.10728CA[8], NG_008665.1:g.10728CA[9], NG_008665.1:g.10728CA[10], NG_008665.1:g.10728CA[11], NG_008665.1:g.10728CA[12], NG_008665.1:g.10728CA[14], NG_008665.1:g.10728CA[15], NG_008665.1:g.10728CA[16], NG_008665.1:g.10728CA[17], NG_008665.1:g.10728CA[18], NG_008665.1:g.10728CA[19], NG_008665.1:g.10728CA[20]

Select item 149075571311.

rs1490755713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61017533 (GRCh38)
2:61244668 (GRCh37)
Canonical SPDI:: NC_000002.12:61017532:G:A
Gene:: PEX13 (Varview), PUS10 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61017533G>A, NC_000002.11:g.61244668G>A, NG_008665.1:g.4857G>A

Select item 149072125512.

rs1490721255 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61017409 (GRCh38)
2:61244544 (GRCh37)
Canonical SPDI:: NC_000002.12:61017408:G:A
Gene:: PEX13 (Varview), PUS10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.61017409G>A, NC_000002.11:g.61244544G>A, NG_008665.1:g.4733G>A, XM_011532576.4:c.-41C>T, XM_011532576.3:c.-41C>T, XM_011532576.2:c.-41C>T, XM_011532576.1:c.-41C>T, XM_047443476.1:c.-235C>T, NM_001322123.1:c.-188C>T, XM_047443478.1:c.-188C>T

Select item 149060909113.

rs1490609091 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:61017596 (GRCh38)
2:61244731 (GRCh37)
Canonical SPDI:: NC_000002.12:61017595:G:A
Gene:: PEX13 (Varview), PUS10 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.61017596G>A, NC_000002.11:g.61244731G>A, NG_008665.1:g.4920G>A

Select item 149054170714.

rs1490541707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:61052369 (GRCh38)
2:61279504 (GRCh37)
Canonical SPDI:: NC_000002.12:61052368:C:T
Gene:: PEX13 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61052369C>T, NC_000002.11:g.61279504C>T, NG_008665.1:g.39693C>T

Select item 149039731015.

rs1490397310 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:61044794 (GRCh38)
2:61271929 (GRCh37)
Canonical SPDI:: NC_000002.12:61044793:G:
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000002.12:g.61044794del, NC_000002.11:g.61271929del, NG_008665.1:g.32118del

Select item 149031594716.

rs1490315947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:61019064 (GRCh38)
2:61246199 (GRCh37)
Canonical SPDI:: NC_000002.12:61019063:C:G
Gene:: PEX13 (Varview), PUS10 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61019064C>G, NC_000002.11:g.61246199C>G, NG_008665.1:g.6388C>G

Select item 149028097517.

rs1490280975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:61018164 (GRCh38)
2:61245299 (GRCh37)
Canonical SPDI:: NC_000002.12:61018163:T:C
Gene:: PEX13 (Varview), PUS10 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00034/1 (KOREAN)
HGVS:: NC_000002.12:g.61018164T>C, NC_000002.11:g.61245299T>C, NG_008665.1:g.5488T>C, XM_011532568.4:c.-219A>G, XM_011532568.3:c.-219A>G, XM_011532568.2:c.-219A>G, NM_144709.4:c.-172A>G, NM_144709.3:c.-172A>G, NM_144709.2:c.-172A>G, XM_011532574.4:c.-41A>G, XM_011532574.3:c.-41A>G, XM_011532574.2:c.-41A>G, XM_011532574.1:c.-41A>G, XM_017003428.3:c.-172A>G, XM_017003428.2:c.-172A>G, XM_017003428.1:c.-172A>G, XM_024452720.2:c.-296A>G, XM_024452720.1:c.-296A>G, XM_047443481.1:c.-296A>G, NM_001322127.1:c.-779A>G

Select item 149014319218.

rs1490143192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:61027101 (GRCh38)
2:61254236 (GRCh37)
Canonical SPDI:: NC_000002.12:61027100:T:C,NC_000002.12:61027100:T:G
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.61027101T>C, NC_000002.12:g.61027101T>G, NC_000002.11:g.61254236T>C, NC_000002.11:g.61254236T>G, NG_008665.1:g.14425T>C, NG_008665.1:g.14425T>G

Select item 149008864519.

rs1490088645 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCAT>- [Show Flanks]
Chromosome:: 2:61032541 (GRCh38)
2:61259676 (GRCh37)
Canonical SPDI:: NC_000002.12:61032538:ATCTCAT:AT
Gene:: PEX13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.61032541_61032545del, NC_000002.11:g.61259676_61259680del, NG_008665.1:g.19865_19869del

Select item 149008183220.

rs1490081832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:61048599 (GRCh38)
2:61275734 (GRCh37)
Canonical SPDI:: NC_000002.12:61048598:A:C
Gene:: PEX13 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.61048599A>C, NC_000002.11:g.61275734A>C, NG_008665.1:g.35923A>C, NM_002618.4:c.1041A>C, NM_002618.3:c.1041A>C, NP_002609.1:p.Lys347Asn

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