SNP Links for Gene (Select 51234) - SNP

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Select item 14912703151.

rs1491270315 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:34229073 (GRCh38)
15:34521274 (GRCh37)
Canonical SPDI:: NC_000015.10:34229070:AGAG:AG
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.00118/14 (ALFA)
-=0.00111/155 (GnomAD)
-=0.010917/20 (Korea1K)
-=0.01136/190 (TOMMO)
AG=0.363636/4 (1000Genomes)
HGVS:: NC_000015.10:g.34229071AG[1], NC_000015.9:g.34521272AG[1], NG_007951.1:g.113991CT[1], NG_054746.1:g.9075AG[1]

Select item 14912086262.

rs1491208626 has merged into rs796849079 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:34229910 (GRCh38)
15:34522111 (GRCh37)
Canonical SPDI:: NC_000015.10:34229907:CTCT:CT
Gene:: SLC12A6 (Varview), EMC4 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.107606/2968 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.076563/343 (Estonian)
-=0.104208/104 (GoNL)
-=0.11117/15568 (GnomAD)
-=0.113333/68 (NorthernSweden)
-=0.121886/32262 (TOPMED)
-=0.13411/24658 (GnomAD_exomes)
-=0.173726/8137 (ExAC)
-=0.176917/886 (1000Genomes)
-=0.23066/3866 (TOMMO)
-=0.231987/425 (Korea1K)
-=0.261682/56 (Vietnamese)
HGVS:: NC_000015.10:g.34229908CT[1], NC_000015.9:g.34522109CT[1], NG_007951.1:g.113154AG[1], NM_001042496.2:c.*3970AG[1], NM_001042494.2:c.*3970AG[1], NM_133647.2:c.*3970AG[1], NM_001042497.2:c.*3970AG[1], NM_001042495.2:c.*3970AG[1], NM_001365088.1:c.*3970AG[1], NG_054746.1:g.9912CT[1], NM_016454.4:c.*120CT[1], NM_016454.3:c.*120CT[1], NM_016454.2:c.*120CT[1], NM_001351373.2:c.*120CT[1], NM_001351373.1:c.*120CT[1], NR_147140.2:n.618CT[1], NR_147140.1:n.637CT[1], NM_001286420.2:c.*61CT[1], NM_001286420.1:c.*61CT[1], XM_006720793.5:c.*3970AG[1], XM_047433396.1:c.*3970AG[1]

Select item 14909561813.

rs1490956181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34224137 (GRCh38)
15:34516338 (GRCh37)
Canonical SPDI:: NC_000015.10:34224136:C:T
Gene:: EMC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34224137C>T, NC_000015.9:g.34516338C>T, NG_054746.1:g.4141C>T

Select item 14908850674.

rs1490885067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:34226076 (GRCh38)
15:34518277 (GRCh37)
Canonical SPDI:: NC_000015.10:34226075:C:G
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.0003/1 (KOREAN)
HGVS:: NC_000015.10:g.34226076C>G, NC_000015.9:g.34518277C>G, NG_054746.1:g.6080C>G

Select item 14891613405.

rs1489161340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:34229812 (GRCh38)
15:34522013 (GRCh37)
Canonical SPDI:: NC_000015.10:34229811:C:G,NC_000015.10:34229811:C:T
Gene:: SLC12A6 (Varview), EMC4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34229812C>G, NC_000015.10:g.34229812C>T, NC_000015.9:g.34522013C>G, NC_000015.9:g.34522013C>T, NG_007951.1:g.113253G>C, NG_007951.1:g.113253G>A, NM_001042496.2:c.*4069G>C, NM_001042496.2:c.*4069G>A, NM_001042494.2:c.*4069G>C, NM_001042494.2:c.*4069G>A, NM_133647.2:c.*4069G>C, NM_133647.2:c.*4069G>A, NM_001042497.2:c.*4069G>C, NM_001042497.2:c.*4069G>A, NM_001042495.2:c.*4069G>C, NM_001042495.2:c.*4069G>A, NM_001365088.1:c.*4069G>C, NM_001365088.1:c.*4069G>A, NG_054746.1:g.9816C>G, NG_054746.1:g.9816C>T, NM_016454.4:c.*24C>G, NM_016454.4:c.*24C>T, NM_016454.3:c.*24C>G, NM_016454.3:c.*24C>T, NM_016454.2:c.*24C>G, NM_016454.2:c.*24C>T, NM_001351373.2:c.*24C>G, NM_001351373.2:c.*24C>T, NM_001351373.1:c.*24C>G, NM_001351373.1:c.*24C>T, NR_147140.2:n.522C>G, NR_147140.2:n.522C>T, NR_147140.1:n.541C>G, NR_147140.1:n.541C>T, NM_001286420.2:c.415C>G, NM_001286420.2:c.415C>T, NM_001286420.1:c.415C>G, NM_001286420.1:c.415C>T, XM_006720793.5:c.*4069G>C, XM_006720793.5:c.*4069G>A, XM_047433396.1:c.*4069G>C, XM_047433396.1:c.*4069G>A, NP_001273349.1:p.Pro139Ala, NP_001273349.1:p.Pro139Ser

Select item 14885252966.

rs1488525296 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGT>- [Show Flanks]
Chromosome:: 15:34227154 (GRCh38)
15:34519355 (GRCh37)
Canonical SPDI:: NC_000015.10:34227151:GTCAGT:GT
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0.000071/1 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000049/13 (TOPMED)
HGVS:: NC_000015.10:g.34227154_34227157del, NC_000015.9:g.34519355_34519358del, NG_054746.1:g.7158_7161del

Select item 14883832037.

rs1488383203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:34229356 (GRCh38)
15:34521557 (GRCh37)
Canonical SPDI:: NC_000015.10:34229355:A:T
Gene:: SLC12A6 (Varview), EMC4 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000015.10:g.34229356A>T, NC_000015.9:g.34521557A>T, NG_007951.1:g.113709T>A, NG_054746.1:g.9360A>T

Select item 14877260748.

rs1487726074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34227200 (GRCh38)
15:34519401 (GRCh37)
Canonical SPDI:: NC_000015.10:34227199:T:C
Gene:: EMC4 (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_000015.10:g.34227200T>C, NC_000015.9:g.34519401T>C, NG_054746.1:g.7204T>C

Select item 14873178729.

rs1487317872 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTA>- [Show Flanks]
Chromosome:: 15:34229035 (GRCh38)
15:34521236 (GRCh37)
Canonical SPDI:: NC_000015.10:34229031:TTATTTTTA:TTA
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTA=0.000084/1 (ALFA)
-=0.000051/7 (GnomAD)
HGVS:: NC_000015.10:g.34229035_34229040del, NC_000015.9:g.34521236_34521241del, NG_007951.1:g.114028_114033del, NG_054746.1:g.9039_9044del

Select item 148726312410.

rs1487263124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 15:34225044 (GRCh38)
15:34517245 (GRCh37)
Canonical SPDI:: NC_000015.10:34225043:A:C,NC_000015.10:34225043:A:T
Gene:: EMC4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34225044A>C, NC_000015.10:g.34225044A>T, NC_000015.9:g.34517245A>C, NC_000015.9:g.34517245A>T, NG_054746.1:g.5048A>C, NG_054746.1:g.5048A>T, NM_016454.4:c.-71A>C, NM_016454.4:c.-71A>T, NM_016454.3:c.-71A>C, NM_016454.3:c.-71A>T, NM_016454.2:c.-71A>C, NM_016454.2:c.-71A>T, NM_001351373.2:c.-322A>C, NM_001351373.2:c.-322A>T, NM_001351373.1:c.-322A>C, NM_001351373.1:c.-322A>T, NR_147140.2:n.29A>C, NR_147140.2:n.29A>T, NR_147140.1:n.48A>C, NR_147140.1:n.48A>T, NM_001286420.2:c.-71A>C, NM_001286420.2:c.-71A>T, NM_001286420.1:c.-71A>C, NM_001286420.1:c.-71A>T

Select item 148725491911.

rs1487254919 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34227574 (GRCh38)
15:34519775 (GRCh37)
Canonical SPDI:: NC_000015.10:34227573:T:C
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.34227574T>C, NC_000015.9:g.34519775T>C, NG_054746.1:g.7578T>C

Select item 148686388312.

rs1486863883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34225620 (GRCh38)
15:34517821 (GRCh37)
Canonical SPDI:: NC_000015.10:34225619:G:A
Gene:: EMC4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.34225620G>A, NC_000015.9:g.34517821G>A, NG_054746.1:g.5624G>A, NM_016454.4:c.171G>A, NM_016454.3:c.171G>A, NM_016454.2:c.171G>A, NM_001351373.2:c.-81G>A, NM_001351373.1:c.-81G>A, NR_147140.2:n.270G>A, NR_147140.1:n.289G>A, NM_001286420.2:c.171G>A, NM_001286420.1:c.171G>A

Select item 148669097113.

rs1486690971 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:34229222 (GRCh38)
15:34521424 (GRCh37)
Canonical SPDI:: NC_000015.10:34229222:TTTTT:TTTTTT
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000015.10:g.34229227dup, NC_000015.9:g.34521428dup, NG_007951.1:g.113842dup, NG_054746.1:g.9231dup

Select item 148661717114.

rs1486617171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34225061 (GRCh38)
15:34517262 (GRCh37)
Canonical SPDI:: NC_000015.10:34225060:G:A
Gene:: EMC4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.34225061G>A, NC_000015.9:g.34517262G>A, NG_054746.1:g.5065G>A, NM_016454.4:c.-54G>A, NM_016454.3:c.-54G>A, NM_016454.2:c.-54G>A, NM_001351373.2:c.-305G>A, NM_001351373.1:c.-305G>A, NR_147140.2:n.46G>A, NR_147140.1:n.65G>A, NM_001286420.2:c.-54G>A, NM_001286420.1:c.-54G>A

Select item 148611398315.

rs1486113983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:34224852 (GRCh38)
15:34517053 (GRCh37)
Canonical SPDI:: NC_000015.10:34224851:C:G
Gene:: EMC4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34224852C>G, NC_000015.9:g.34517053C>G, NG_054746.1:g.4856C>G

Select item 148594149316.

rs1485941493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34229109 (GRCh38)
15:34521310 (GRCh37)
Canonical SPDI:: NC_000015.10:34229108:G:A
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34229109G>A, NC_000015.9:g.34521310G>A, NG_007951.1:g.113956C>T, NG_054746.1:g.9113G>A

Select item 148544015917.

rs1485440159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:34230319 (GRCh38)
15:34522520 (GRCh37)
Canonical SPDI:: NC_000015.10:34230318:A:T
Gene:: SLC12A6 (Varview), EMC4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.34230319A>T, NC_000015.9:g.34522520A>T, NG_007951.1:g.112746T>A, NM_001042496.2:c.*3562T>A, NM_001042496.1:c.*3562T>A, NM_001042494.2:c.*3562T>A, NM_001042494.1:c.*3562T>A, NM_133647.2:c.*3562T>A, NM_133647.1:c.*3562T>A, NM_001042497.2:c.*3562T>A, NM_001042497.1:c.*3562T>A, NM_001042495.2:c.*3562T>A, NM_001042495.1:c.*3562T>A, NM_005135.2:c.*3562T>A, NM_001365088.1:c.*3562T>A, NG_054746.1:g.10323A>T, XM_006720793.5:c.*3562T>A, XM_006720793.4:c.*3562T>A, XM_006720793.3:c.*3562T>A, XM_047433396.1:c.*3562T>A

Select item 148499237618.

rs1484992376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34228697 (GRCh38)
15:34520898 (GRCh37)
Canonical SPDI:: NC_000015.10:34228696:T:C
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000392/7 (TOMMO)
HGVS:: NC_000015.10:g.34228697T>C, NC_000015.9:g.34520898T>C, NG_007951.1:g.114368A>G, NG_054746.1:g.8701T>C

Select item 148490976919.

rs1484909769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:34228522 (GRCh38)
15:34520723 (GRCh37)
Canonical SPDI:: NC_000015.10:34228521:A:C
Gene:: EMC4 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34228522A>C, NC_000015.9:g.34520723A>C, NG_007951.1:g.114543T>G, NG_054746.1:g.8526A>C, NM_016454.4:c.449A>C, NM_016454.3:c.449A>C, NM_016454.2:c.449A>C, NM_001351373.2:c.206A>C, NM_001351373.1:c.206A>C, NP_057538.1:p.Lys150Thr, NP_001338302.1:p.Lys69Thr

Select item 148489043820.

rs1484890438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34225779 (GRCh38)
15:34517980 (GRCh37)
Canonical SPDI:: NC_000015.10:34225778:T:C
Gene:: EMC4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34225779T>C, NC_000015.9:g.34517980T>C, NG_054746.1:g.5783T>C

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