SNP Links for Gene (Select 155006) - SNP

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Select item 14915110141.

rs1491511014 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:138795827 (GRCh38)
7:138480572 (GRCh37)
Canonical SPDI:: NC_000007.14:138795825:TGT:T
Gene:: ATP6V0A4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.138795827_138795828del, NC_000007.13:g.138480572_138480573del, NG_008145.1:g.7370_7371del

Select item 14914823022.

rs1491482302 has merged into rs36090112 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTTT [Show Flanks]
Chromosome:: 7:138800716 (GRCh38)
7:138485461 (GRCh37)
Canonical SPDI:: NC_000007.14:138800704:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:138800704:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:138800704:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:138800704:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:138800704:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:138800704:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: TMEM213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.138800716_138800720del, NC_000007.14:g.138800717_138800720del, NC_000007.14:g.138800718_138800720del, NC_000007.14:g.138800719_138800720del, NC_000007.14:g.138800720del, NC_000007.14:g.138800719_138800720dup, NC_000007.13:g.138485461_138485465del, NC_000007.13:g.138485462_138485465del, NC_000007.13:g.138485463_138485465del, NC_000007.13:g.138485464_138485465del, NC_000007.13:g.138485465del, NC_000007.13:g.138485464_138485465dup, NG_008145.1:g.2488_2492del, NG_008145.1:g.2489_2492del, NG_008145.1:g.2490_2492del, NG_008145.1:g.2491_2492del, NG_008145.1:g.2492del, NG_008145.1:g.2491_2492dup

Select item 14914786613.

rs1491478661 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTTCT,CTTCTTCT,CTTCTTCTTCT,CTTCTTCTTCTTCT,CTTCTTCTTCTTCTTCT [Show Flanks]
Chromosome:: 7:138800705 (GRCh38)
7:138485451 (GRCh37)
Canonical SPDI:: NC_000007.14:138800705:T:TCT,NC_000007.14:138800705:T:TCTTCT,NC_000007.14:138800705:T:TCTTCTTCT,NC_000007.14:138800705:T:TCTTCTTCTTCT,NC_000007.14:138800705:T:TCTTCTTCTTCTTCT,NC_000007.14:138800705:T:TCTTCTTCTTCTTCTTCT
Gene:: TMEM213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCT=0./0 (ALFA)
HGVS:: NC_000007.14:g.138800706_138800707insCT, NC_000007.14:g.138800706_138800707insCTTCT, NC_000007.14:g.138800706_138800707insCTTCTTCT, NC_000007.14:g.138800706_138800707insCTTCTTCTTCT, NC_000007.14:g.138800706_138800707insCTTCTTCTTCTTCT, NC_000007.14:g.138800706_138800707insCTTCTTCTTCTTCTTCT, NC_000007.13:g.138485451_138485452insCT, NC_000007.13:g.138485451_138485452insCTTCT, NC_000007.13:g.138485451_138485452insCTTCTTCT, NC_000007.13:g.138485451_138485452insCTTCTTCTTCT, NC_000007.13:g.138485451_138485452insCTTCTTCTTCTTCT, NC_000007.13:g.138485451_138485452insCTTCTTCTTCTTCTTCT, NG_008145.1:g.2491_2492insGA, NG_008145.1:g.2491_2492insGAAGA, NG_008145.1:g.2491_2492insGAAGAAGA, NG_008145.1:g.2491_2492insGAAGAAGAAGA, NG_008145.1:g.2491_2492insGAAGAAGAAGAAGA, NG_008145.1:g.2491_2492insGAAGAAGAAGAAGAAGA

Select item 14913773034.

rs1491377303 has merged into rs3842142 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:138797216 (GRCh38)
7:138481961 (GRCh37)
Canonical SPDI:: NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:138797208:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ATP6V0A4 (Varview), TMEM213 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.138797216_138797231del, NC_000007.14:g.138797217_138797231del, NC_000007.14:g.138797218_138797231del, NC_000007.14:g.138797219_138797231del, NC_000007.14:g.138797220_138797231del, NC_000007.14:g.138797221_138797231del, NC_000007.14:g.138797222_138797231del, NC_000007.14:g.138797224_138797231del, NC_000007.14:g.138797225_138797231del, NC_000007.14:g.138797226_138797231del, NC_000007.14:g.138797227_138797231del, NC_000007.14:g.138797228_138797231del, NC_000007.14:g.138797229_138797231del, NC_000007.14:g.138797230_138797231del, NC_000007.14:g.138797231del, NC_000007.14:g.138797231dup, NC_000007.14:g.138797230_138797231dup, NC_000007.14:g.138797229_138797231dup, NC_000007.14:g.138797228_138797231dup, NC_000007.14:g.138797227_138797231dup, NC_000007.14:g.138797226_138797231dup, NC_000007.14:g.138797225_138797231dup, NC_000007.14:g.138797224_138797231dup, NC_000007.14:g.138797223_138797231dup, NC_000007.14:g.138797222_138797231dup, NC_000007.13:g.138481961_138481976del, NC_000007.13:g.138481962_138481976del, NC_000007.13:g.138481963_138481976del, NC_000007.13:g.138481964_138481976del, NC_000007.13:g.138481965_138481976del, NC_000007.13:g.138481966_138481976del, NC_000007.13:g.138481967_138481976del, NC_000007.13:g.138481969_138481976del, NC_000007.13:g.138481970_138481976del, NC_000007.13:g.138481971_138481976del, NC_000007.13:g.138481972_138481976del, NC_000007.13:g.138481973_138481976del, NC_000007.13:g.138481974_138481976del, NC_000007.13:g.138481975_138481976del, NC_000007.13:g.138481976del, NC_000007.13:g.138481976dup, NC_000007.13:g.138481975_138481976dup, NC_000007.13:g.138481974_138481976dup, NC_000007.13:g.138481973_138481976dup, NC_000007.13:g.138481972_138481976dup, NC_000007.13:g.138481971_138481976dup, NC_000007.13:g.138481970_138481976dup, NC_000007.13:g.138481969_138481976dup, NC_000007.13:g.138481968_138481976dup, NC_000007.13:g.138481967_138481976dup, NG_008145.1:g.5973_5988del, NG_008145.1:g.5974_5988del, NG_008145.1:g.5975_5988del, NG_008145.1:g.5976_5988del, NG_008145.1:g.5977_5988del, NG_008145.1:g.5978_5988del, NG_008145.1:g.5979_5988del, NG_008145.1:g.5981_5988del, NG_008145.1:g.5982_5988del, NG_008145.1:g.5983_5988del, NG_008145.1:g.5984_5988del, NG_008145.1:g.5985_5988del, NG_008145.1:g.5986_5988del, NG_008145.1:g.5987_5988del, NG_008145.1:g.5988del, NG_008145.1:g.5988dup, NG_008145.1:g.5987_5988dup, NG_008145.1:g.5986_5988dup, NG_008145.1:g.5985_5988dup, NG_008145.1:g.5984_5988dup, NG_008145.1:g.5983_5988dup, NG_008145.1:g.5982_5988dup, NG_008145.1:g.5981_5988dup, NG_008145.1:g.5980_5988dup, NG_008145.1:g.5979_5988dup

Select item 14911152385.

rs1491115238 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C [Show Flanks]
Chromosome:: 7:138797209 (GRCh38)
7:138481955 (GRCh37)
Canonical SPDI:: NC_000007.14:138797209::A,NC_000007.14:138797209::C
Gene:: ATP6V0A4 (Varview), TMEM213 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000662/68 (GnomAD)
HGVS:: NC_000007.14:g.138797209_138797210insA, NC_000007.14:g.138797209_138797210insC, NC_000007.13:g.138481954_138481955insA, NC_000007.13:g.138481954_138481955insC, NG_008145.1:g.5987_5988insT, NG_008145.1:g.5987_5988insG

Select item 14907534426.

rs1490753442 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:138805883 (GRCh38)
7:138490628 (GRCh37)
Canonical SPDI:: NC_000007.14:138805882:T:
Gene:: TMEM213 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.138805883del, NC_000007.13:g.138490628del, NM_001085429.2:c.*2814del, NM_001085429.1:c.*2814del

Select item 14905726197.

rs1490572619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:138805395 (GRCh38)
7:138490140 (GRCh37)
Canonical SPDI:: NC_000007.14:138805394:G:A,NC_000007.14:138805394:G:T
Gene:: TMEM213 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00143/23 (ALFA)
T=0.00262/74 (TOMMO)
A=0.02603/76 (KOREAN)
HGVS:: NC_000007.14:g.138805395G>A, NC_000007.14:g.138805395G>T, NC_000007.13:g.138490140G>A, NC_000007.13:g.138490140G>T, NM_001085429.2:c.*2326G>A, NM_001085429.2:c.*2326G>T, NM_001085429.1:c.*2326G>A, NM_001085429.1:c.*2326G>T

Select item 14904764798.

rs1490476479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:138798483 (GRCh38)
7:138483228 (GRCh37)
Canonical SPDI:: NC_000007.14:138798482:G:A
Gene:: ATP6V0A4 (Varview), TMEM213 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.138798483G>A, NC_000007.13:g.138483228G>A, NG_008145.1:g.4714C>T

Select item 14904346789.

rs1490434678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:138805527 (GRCh38)
7:138490272 (GRCh37)
Canonical SPDI:: NC_000007.14:138805526:G:A
Gene:: TMEM213 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.138805527G>A, NC_000007.13:g.138490272G>A, NM_001085429.2:c.*2458G>A, NM_001085429.1:c.*2458G>A

Select item 149030723610.

rs1490307236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:138800829 (GRCh38)
7:138485574 (GRCh37)
Canonical SPDI:: NC_000007.14:138800828:A:G
Gene:: TMEM213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.138800829A>G, NC_000007.13:g.138485574A>G, NG_008145.1:g.2368T>C

Select item 149027215311.

rs1490272153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:138804582 (GRCh38)
7:138489327 (GRCh37)
Canonical SPDI:: NC_000007.14:138804581:A:T
Gene:: TMEM213 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.138804582A>T, NC_000007.13:g.138489327A>T, NM_001085429.2:c.*1513A>T, NM_001085429.1:c.*1513A>T

Select item 149024614512.

rs1490246145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:138807019 (GRCh38)
7:138491764 (GRCh37)
Canonical SPDI:: NC_000007.14:138807018:G:A
Gene:: TMEM213 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
A=0.004673/1 (Vietnamese)
HGVS:: NC_000007.14:g.138807019G>A, NC_000007.13:g.138491764G>A

Select item 148918925513.

rs1489189255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:138801282 (GRCh38)
7:138486027 (GRCh37)
Canonical SPDI:: NC_000007.14:138801281:T:C
Gene:: TMEM213 (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_000007.14:g.138801282T>C, NC_000007.13:g.138486027T>C, NG_008145.1:g.1915A>G

Select item 148854938314.

rs1488549383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:138796182 (GRCh38)
7:138480927 (GRCh37)
Canonical SPDI:: NC_000007.14:138796181:C:T
Gene:: ATP6V0A4 (Varview), TMEM213 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.138796182C>T, NC_000007.13:g.138480927C>T, NG_008145.1:g.7015G>A

Select item 148854579715.

rs1488545797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:138802344 (GRCh38)
7:138487089 (GRCh37)
Canonical SPDI:: NC_000007.14:138802343:G:A,NC_000007.14:138802343:G:C
Gene:: TMEM213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.138802344G>A, NC_000007.14:g.138802344G>C, NC_000007.13:g.138487089G>A, NC_000007.13:g.138487089G>C, NG_008145.1:g.853C>T, NG_008145.1:g.853C>G

Select item 148720793416.

rs1487207934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:138802256 (GRCh38)
7:138487001 (GRCh37)
Canonical SPDI:: NC_000007.14:138802255:A:T
Gene:: TMEM213 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.138802256A>T, NC_000007.13:g.138487001A>T, NG_008145.1:g.941T>A

Select item 148707564917.

rs1487075649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:138806381 (GRCh38)
7:138491126 (GRCh37)
Canonical SPDI:: NC_000007.14:138806380:C:G,NC_000007.14:138806380:C:T
Gene:: TMEM213 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.138806381C>G, NC_000007.14:g.138806381C>T, NC_000007.13:g.138491126C>G, NC_000007.13:g.138491126C>T, NM_001085429.2:c.*3312C>G, NM_001085429.2:c.*3312C>T

Select item 148698294518.

rs1486982945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:138803002 (GRCh38)
7:138487747 (GRCh37)
Canonical SPDI:: NC_000007.14:138803001:T:A
Gene:: TMEM213 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.138803002T>A, NC_000007.13:g.138487747T>A, NG_008145.1:g.195A>T, NM_001085429.2:c.257T>A, NM_001085429.1:c.257T>A, NP_001078898.1:p.Leu86His

Select item 148696620919.

rs1486966209 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:138806268 (GRCh38)
7:138491013 (GRCh37)
Canonical SPDI:: NC_000007.14:138806267:GGG:GG
Gene:: TMEM213 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.138806270del, NC_000007.13:g.138491015del, NM_001085429.2:c.*3201del

Select item 148665685520.

rs1486656855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:138803546 (GRCh38)
7:138488291 (GRCh37)
Canonical SPDI:: NC_000007.14:138803545:G:A
Gene:: TMEM213 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.138803546G>A, NC_000007.13:g.138488291G>A, NM_001085429.2:c.*477G>A, NM_001085429.1:c.*477G>A

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